15q24 deletion syndrome

In each pregnancy, someone with 15q24 microdeletion syndrome has a 50 percent possibility of passing it on and a 50 percent possibility of having a child without the duplication. The clinical findings of the 15q24 microdeletion syndrome can vary even within families.

15q24 microdeletion syndrome occurs when a person has one intact chromosome 15, but the other has a small amount of material missing (microdeletion) on the long arm (q). No single gene has so far been shown to produce the characteristic features of 15q24 microdeletion syndrome. The exact size of the deletion varies, but people with 15q24 are missing between 1.7 million and 6.1 million, or 1.7-6.1 megabases (Mb), of DNA building blocks (base pairs) at position q24 on chromosome 15. Base pairs are the chemicals in DNA that form the end of the "rungs" of its ladder-like structure.

Although the size of the deletion for 15q24 microdeletion varies with each individual (between 1.7-6.1 Mb), all individuals are missing the same 1.2 Mb region on one copy of their chromosome 15. The signs and symptoms that result from a 15q24 microdeletion are probably related to the loss of one or more genes in this deleted region, as this section on chromosome 15 contains several genes that are thought to be important for normal development. It is unclear, however, which missing genes contribute to the specific features of the disorder.

It is recommended that both parents undergo a blood test in an attempt to find out why the 15q24 microdeletion occurred.

All known cases of 15q24 so far, have resulted from new (de novo) deletions in the sperm or egg, meaning that both parents have had normal chromosomes and the chance of having another child with this syndrome in future pregnancies is low (probably <1%) but greater than that of the general population. This risk is slightly larger due to the very small possibility that the deletion occurred during the formation of the egg or sperm cells in a parent, due to either parent having a chromosomal rearrangement or deletion involving 15q24.

There is nothing the parent did to cause the 15q24 microdeletion and nothing they could have done that would have prevented it from occurring in the individual. No environmental, dietary, or lifestyle factors are known to cause these changes in the chromosome.

Many children have found occupational, physiotherapy and/or speech therapy helpful. In addition, frequent visits with the ophthalmologist and/or audiologist is recommended if the individual is experiencing hearing and/or vision problems. Regular and dental care is recommended as well as visits with a cardiologist, in order to monitor for potential heart problems (which have been reported in a few children with 15q24).

Features present in 15q24 microdeletion syndrome may also be present in other diseases, and when thinking of a diagnosis, these disorders may also be considered in affected individuals. For example, clinical features such as microcephaly, absent speech, growth delay, seizures, and a generally happy mood seen in 15q24 may also be seen in Angelman syndrome. Diaphragmatic hernia, often seen in 15q24 microdeletion syndrome, is also a prominent feature of Fryns syndrome and therefore should be considered as a potential diagnosis as well. Developmental delay and dysmorphic facial features is also common in deletion 22q11.2 (velocardiofacial syndrome). Clinical features of 15q24 microdeletion syndrome that may also be seen with Prader-Willi syndrome include severe infant hypotonia, seizures, global developmental delay, strabismus (where both eyes do not line up in the same direction, so they do not look at the same object at the same time) and cryptorchidism (where the testes fail to descend into the scrotum).

Other syndromes which share similar features to 15q24 include microphthalmia/Matthew Wood syndrome, which involves intellectual disability with eye abnormalities including microphthalmia and/or anophthalmia, diaphragmatic hernia, pulmonary hypoplasia, cardiac defects, and short stature. Congenital disorder of glycosylation, type Ib (MPI-CDG) includes features such as chronic diarrhea and failure to thrive, which can be present in 15q24. Lastly, several individuals with a duplication of the 1.2 Mb critical region, normally deleted in 15q24 microdeletion syndrome, share similar features.

In general, children with 15q24 microdeletion syndrome are sociable, affectionate and happy individuals. However, as with any child with a communication difficulty, individuals may become frustrated, with a small minority succumbing to temper tantrums and aggression. Affected children are more likely than children without 15q24 microdeletion syndrome to have attention deficit hyperactivity disorder (ADHD), which includes a range of symptoms such as poor concentration, hyperactivity, and impulsivity. Additionally, Autistic spectrum disorder (ASD) has also been reported in eight people with 15q24 microdeletion syndrome (out of 33 total reported cases). Individuals with ASD are characterized by a variety of traits, including difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors.

The outlook for individuals with 15q24 microdeletion syndrome will vary from person to person, which is in part due to the severity of the birth defects. In general, the majority of individuals do not typically have life-threatening organ problems.

The age at which 15q24 microdeletion syndrome is diagnosed ranges from newborn to 29 years of age. The average age at which this syndrome is diagnosed is around 10 years old.

People with 15q24 microdeletion syndrome are missing a small amount of material on the 15th chromosome, which can affect their learning and physical development. The most common findings in 15q24 microdeletion syndrome include developmental delay and childhood hypotonia (low muscle tone leading to floppiness). Children and adults with this rare condition may also have typical facial features such as a high forehead and microcephally (small head), as well as changes to the structure of the hands and feet.

Doctors most usually refer to this condition as "15q24 microdeletion syndrome".

People with 15q24 microduplication syndrome share clinical features with 15q24 microdeletion syndrome patients. Patients with 15q24 microduplication for example, have been described with features such as developmental delay, hand and genital findings (such as hypospadias- which is where the opening of the urethra is on the underside of the penis, instead of at the tip). In addition, patients have been described with eye features similar to 15q24 microdeletion syndrome, such as hypertelorism (increased distance between the eyes), thinck eyelids, and down-slanting palpebral fissures (the space between the eyelids).

Around two thirds of those with 15q24 microdeletion syndrome have loose (lax) joints. Some children have joints that are able to extend a joint beyond the normal range (hyperextensible), which may make them prone to injury. The joints most often affected are the hands, though individuals also have joint laxity in the feet and ankles which can make learning to walk more difficult.

It is also common for individuals with 15q24 to have problems with vision. The most common eye finding in this syndrome is strabismus, where both eyes do not line up in the same direction and cannot look at the same object at the same time. Other problems include nystagmus (rapid uncontrolled eye movements), hypermetropia (inability to see objects clearly up-close), coloboma (hole in one of the structures of the eye, sch as iris, retina, choroid or optic disc), microphthalmia (small eyes), anisocoria (pupils that are different sizes at the same time), papilloedemia (swelling of the optic disc) and lack of stereoscopic (binocular) vision, resulting in problems with depth perception and severely impaired vision.

Children with 15q24 microdeletion syndrome can be prone to recurrent ear infections and sensorineural or conductive hearing loss. Those with sensorineural hearing loss have permanent hearing loss due to damage of the inner ear or to the nerve pathways from the inner ear to the brain. Conductive hearing loss occurs when sound is not conducted efficiently through the outer ear canal to the eardrum and the tiny bones of the middle ear. Conductive hearing loss due to fluid in the middle ear usually resolves as children get older, however persistent fluid in the middle ear can reduce a child’s hearing at a time that is critical for speech and language development and if this fluid persists and many children will need a "grommet" a small ventilation tube which is inserted into the eardrum.

Feeding difficulties are common in those with a 15q24 microdeletion. Hypotonia, which is common in infants with 15q24 microdeletions can lead to difficulties with feeding, due to difficulties with sucking and swallowing and/or latching onto the breast. Hypotonia can also affect food passage and contribute to gastro-oesophageal reflux (where feeds return up the food passage). Babies can also have a cleft palate (an opening in the roof of the mouth). A cleft or high palate can mean the action of sucking and swalling is difficult. Older babies and toddlers may have trouble chewing and can choke or gag on lumps in food.

As a very small number of people have been identified with this condition, it is uncertain what the full range of physical and developmental affects are.

Most microdeletions are detected by genomic microarray analysis performed as part of the work-up for a diagnosis of developmental delay or intellectual disability. Genomic miroarray is a method used to detect the lossess or gains of chromosome material which are present in a person’s DNA.

Deletions in the 15q24 region account for less than 0.5 % of cases sent for molecular genetic testing.

Chromosomes are made up mostly of DNA, and are the structures in the body’s cells that carry genetic information (known as genes), which tell the body how to grow and develop. Each chromosome has a short (p) arm and a long (q) arm, and usually come in pairs, one from each parent. In addition to sex chromosomes, which are: XX (a pair of X chromosomes) in females and XY (one X chromosome and Y chromosome) in males, the remaining 44 chromosomes are grouped in 22 pairs and are numbered 1 to 22.

15q24 microdeletion syndrome occurs when a person has one intact chromosome 15, but the other has a small amount of material missing (microdeletion) on the long arm (q). No single gene has so far been shown to produce the characteristic features of 15q24 microdeletion syndrome. The exact size of the deletion varies, but people with 15q24 are missing between 1.7 million and 6.1 million, or 1.7-6.1 megabases (Mb), of DNA building blocks (base pairs) at position q24 on chromosome 15. Base pairs are the chemicals in DNA that form the end of the "rungs" of its ladder-like structure.

Determining the exact size of the deletion is necessary for identifying what genes may contribute to the features of 15q24 microdeletions. It has been noted that 1.1 Mb region in which 26 genes are located is deleted in the majority of cases so far, and has been deemed a critical region for 15q24 microdeletion syndrome. Children who have had small deletions that lie outside the more typical 1.1 Mb region, and involve a small number of genes (5-15), and had milder features of the syndrome with mild learning difficulties and reasonable speech.

As a very small number of people have been identified with this condition, it is uncertain what the full range of physical and developmental affects are.

Chromosomes are made up mostly of DNA, and are the structures in the body’s cells that carry genetic information (known as genes), which tell the body how to grow and develop. Each chromosome has a short (p) arm and a long (q) arm, and usually come in pairs, one from each parent. In addition to sex chromosomes, XX (a pair of X chromosomes) in females and XY (one X chromosome and Y chromosome) in males, the remaining 44 chromosomes are grouped in 22 pairs and are numbered 1 to 22. 15q24 microdeletion syndrome occurs when a person has one intact chromosome 15, but the other has a small amount of material missing (microdeletion) in a certain region. No single gene has so far been shown to produce the characteristic features of 15q24 microdeletion syndrome. The exact size of the deletion varies, but people with 15q24 are missing between 1.7 million and 6.1 million, or 1.7-6.1 megabases (Mb), of DNA building blocks (base pairs) at position q24 on chromosome 15. Base pairs are the chemicals in DNA that form the end of the "rungs" of its ladder-like structure.

It has been noted that 1.1 Mb region in which 26 genes are located is deleted in the majority of cases so far, and has been deemed a critical region for 15q24 microdeletion syndrome. Children who have had small deletions that lie outside the more typical 1.1 Mb region, and involve a small number of genes (5-15), and had milder features of the syndrome with mild learning difficulties and reasonable speech. Determining the exact size of the deletion is necessary for identifying what genes may contribute to the features of 15q24 microdeletions

Although the size of the deletion for 15q24 microdeletion varies with each individual (between 1.7-6.1 Mb), all individuals are missing the same 1.2 Mb region on one copy of their chromosome 15. The signs and symptoms that result from a 15q24 microdeletion are probably related to the loss of one or more genes in this deleted region, as this section on chromosome 15 contains several genes that are thought to be important for normal development. It is unclear, however, which missing genes contribute to the specific features of the disorder.

Newborns with 15q24 microdeletion syndrome may not have any signs or symptoms, however there may be some developmental issues early on.

Learning disabilities are a common finding in children with 15q24 microdeletion syndrome. Some children have mild to moderate learning difficulties (with an IQ of 50-70), whereas others have been described as having moderate to severe learning problems (IQs below 50).

Gross motor skills, such as sitting, moving and walking are often affected in those with 15q24 microdeletion, which means that it may take a little longer for children to roll over, sit, crawl and walk. From the limited information available about this disorder, children can sit without any helpat an average age of 14 months and babies have started to crawl at an average age of 16 months. Walking was mastered by most at an average age of two years and four months. Children have been described as having an unusual walk (gait) and may tire very easily.

These individuals can have continuing difficulties with hand-eye co-ordination, planning and organization and have poor balance. Fine motor skills can also be affected in children with 15q24 microdeletions. Thus, they may take longer to reach for and grab toys and hold a bottle or cup. This, in turn, can lead to delays in children being able to self-feed, dress themselves, hold a pen to write or draw.

Almost all individuals diagnosed with 15q24 microdeletions so far are described as having moderate to severe speech delay, with some having absent speech all together. In addition, those with hearing loss or high palate may have difficulty identifying and producing certain sounds.

As a very small number of people have been identified with this condition, it is uncertain what the full range of physical and developmental affects are.

As of February 23, 2016, there is no clinical research studies listed for 15q24 microdeletion syndrome. Unique has disorder guides for families and offers an offline database for medical professionals for 15q24 microdeletion syndrome.

The clinical findings of the 15q24 microdeletion syndrome can vary and no single clinical feature is needed to make a diagnosis. However, the most common findings in 15q24 microdeletion syndrome include developmental delays, intellectual disability and common facial features.

It is common for a person with 15q24 microdeletion syndrome to have delays in gross motor skills, speech and intellectual development. Some individuals can have mild to severe intellectual disabilities, but most have moderate delays. Most individuals have severe delays in speech development or absent speech all together. Childhood hypotonia is also very common, hypotonia is a condition of low muscle tone leading to floppiness, and hypermobile (lax) joints. Gross motor skills, such as sitting, moving and walking are often affected in those with 15q24 microdeletion, which means that it may take a little longer for children to roll over, sit, crawl and walk. Individuals with 15q24 may also have growth delay which can mean they are shorter than average for their age.

Individuals with 15q24 may share common facial features causing children and adults with this syndrome to look similar. They often have microcephaly (small head), a triangular shaped face with high forehead, high hairline and a long face with full cheeks. In addition, they can have broad eyebrows and widely spaced eyes (known as hypertelorism) with an extra fold of skin covering the corner of the eye (epicanthal folds). They may also have a smooth upper lip (philtrum) and a full lower lip.

As a very small number of people have been identified with this condition, it is unkown what the full range of physical and developmental affects are.

Various hand, foot and ear malformations are also seen with 15q24 microdeletion syndrome, with individuals having long, slender, tapering fingers which may be fused (syndactyly), curved (clinodactyly) or short (brachydactyly). Several individuals have been described with unusually positioned thumbs.
Individuals also may have eye abnormalities with the most common being a condition known as strabismus, where both eyes do not line up in the same direction, so they do not look at the same object at the same time.
Genital abnormalities, such as hypospadias (where the opening of the penis is on the underside, and not at the tip, of the penis) or micropenis (small penis) have been reported in males with 15q24 microdeletion syndrome.

Less common findings include seisures, hearing loss, heart defects, diaphragmatic hernias (an abnormal opening in the diaphragm: which is the muscle between the chest and abdomen which helps you breathe) and bowel atresia (narrowing or absence of part of the small or large intestine).

As a very small number of people have been identified with this condition, it is uncertain what the full range of physical and developmental affects are.

Generally speaking, children with chromosome disorders appear to have somewhat more dental problems than their peers. Dental cavities, small and/or crowded teeth, a single central incisor and dental cavities have all been reported in children with 15q24 microdeletion syndrome. Eight individuals (out of the 33 reported in the medical literature) have been reported to have a curvature of the spine (scoliosis).

Heart problems have been reported in a few children with 15q24 microdeletion syndrome. The heart problems described so far have been ventricular septal defects, tetralogy of Fallot, patent ductus arteriosus, pulmonary stenosis and coarctation of the aorta. A ventricular septal defect (VSD) is a hole in the wall that separates the left and right chambers of the heart (ventricles), allowing blood to flow from the left to right chamber and increasing the blood flow to the lungs. Small VSDs may close spontaneously, but larger VSD usually needs surgical repair to prevent lung problems that would develop from extra blood flow. Tetralogy of fallot is a complex heart condition which involves a VSD and an obstruction below the valve in the artery that leads to the lungs. This means that deoxygenated blood cannot pick up oxygen from the lungs and some of this blood is pumped around the body. Patent ductus arteriosus (PDA) is a heart defect that occurs when the ductus arteriosus, the blood vessel that allows blood to go around the baby’s lungs before birth, remains open after birth. Pulmonary stenosis is a narrowing (stenosis) at one or more points from the right ventricle to the pulmonary artery, which is the artery carrying blood from the right ventricle of the heart to the lungs for oxygenation. Coarctation of the aorta is when part of the aorta, the major artery branching out of the heart and delivering oxygen-rich blood to the body, is narrowed. This can be surgically repaired.

Several individuals with 15q24 microdeletion syndrome have dry skin and skin issues such as eczema (where patches of skin become rough and inflamed with blisters that cause itching and bleeding), keratosis pilaris (fine, bumpy texture to skin), café au lait spots (dark birthmarks) and acanthosis nigricans (darker, thick, velvety skin in body folds and creases).

Children with 15q24 microdeletion syndrome may have an increased risk of seizures, which are caused by a change in electrical activity in the brain. Twelve children in the literature have been shown to have various structural changes in the brain, some of which may be related to seizures.

As a very small number of people have been identified with this condition, it is uncertain what the full range of physical and developmental affects are.

Minor anomalies of the genitals are quite common in infants with 15q24 microdeletion syndrome, and most often affect boys. The most common problem is hypospadias where the opening of the penis is on the underside, and not at the tip, of the penis. This can be surgically repaired. Undescended testes (cryptorchidism) has also been reported, which can also be corrected by surgery if they do not descend by themselves.

A hernia may occur in individuals with this condition. A hernia occurs when an internal part of the body, such as an organ, pushes through a weak spot or tear in the muscle or surrounding tissue wall. The most common is an inguinal hernia, where the bulge of tissue is from the intestines and located in the groin region (lower abdomen). A congenital diaphragmatic hernia (CDH) has also been reported in three children, where there is a hole in the diaphragm (the muscular wall which separates the heart and lungs from the abdomen). Although this hole is normally present in early development, it usually closes by the end of the third month of pregnancy. However, in CDH, the hole has stayed open which allows some of the contents of the abdomen (bowel, stomach or liver) to push up into the chest cavity and potentially preventing the lungs to develop properly, and lungs may be smaller than they should be. Additionally, CDH may also prevent the heart from growing normally. Other hernias observed have been hiatal (the upper part of the stomach pushes upwards into the opening in the diagphram), umbilical (soft, skin-covered bulge at the belly button which contains a small piece of abdominal lining and sometimes part of the abdominal organs). A small surgical operation can be done to repair larger hernias or ones that do not disappear.

Some children have been reported to have various breathing problems such as rapid breathing, asthma, apnoea, persistent cough and stridor (noisy breathing). Some children suffer from frequent respiratory infections which often necessitated treatment with antibiotics.

Constipation is a problem that can affect children with 15q24 microdeletion syndrome. Dietary changes and/or medication can help children manage this problem. Two individuals in the medical literature have been reported to have bowel atresia, which is a narrow or absent bowel. Four children have been reported with an imperforate anus, where the opening to the anus is blocked or missing, which can be corrected surgically.

As a very small number of people have been identified with this condition, it is uncertain what the full range of physical and developmental affects are.

As a biopsy is more invasive than a saliva or blood sample, it is not recommended for testing. There are no differences in the accuracy of the genetic testing if blood or saliva is used. Many laboratories offer both blood or saliva for testing. The testing is completed in the exact same way for both blood and saliva.

15q24 microdeletion syndrome is not a condition that is tested for in newborn screening. To get tested for 15q24 microdeletion syndrome, your doctor must order the test through an accredited laboratory. However, if it is suspected at birth, testing infants is reasonable.

Newborn screening is a state-led test. What disorders are included in the screen varies from state to state.

To find out specific disorders included on your state’s newborn screen go to http://www.babysfirsttest.org.
For more information on Newborn Screening visit http://www.cdc.gov/newbornscreening/

The clinical spectrum of the 15q24 microdeletion syndrome is variable and no single clinical feature is required to establish the diagnosis. Although the most common findings in 15q24 microdeletion syndrome include developmental delays, intellectual disability and distinctive facial features there is nothing unique, odd or unusual to this condition that would help a doctor identify 15q24 microdeletion syndrome.

There is no cure for 15q24 microdeletion syndrome. However, individuals will seek treatment to help reduce the symptoms of this condition.

It is common that individuals with 15q24 microdeletion syndrome seek treatment for any clinical symptoms present in this disorder. The following specialists may need to evaluate/treat individuals with this microdeletion syndrome: speech therapist, occupational therapist, physical therapist, opthalmologist (eye doctor), cardiologist (heart doctor), neurologist, urologist, and gastroenterologist. Routine pediatric care, routine developmental assessments, specialized learning plans, and monitoring of specific identified medical issues is also recommended.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for 15q24 microdeletion syndrome is technically possible for parents who have had a child with 15q24 microdeletion syndrome, and therefore are at a slightly higher risk (probably <1%) of having another child with 15q24. This type of testing, however, requires a previously identified deletion or rearrangement on chromosome 15 found in the affected parent.

15q24 microdeletion syndrome occurs when a person has one intact chromosome 15 but the other has a small amount of material missing (microdeletion) in a certain region. Chromosomes are made up mostly of DNA, and are the structures in the body’s cells that carry genetic information known as genes).

Physical symptoms of 15q24 such as developmental delay, childhood hypotonia (low muscle tone leading to floppiness), facial features such as a high forehead and microcephally (small head), as well as changes to the structure of the hands and feet are not sufficiently distinct enough to be specifically suspected on symptoms alone.

Although clinical features of 15q24 microdeletion syndrome will be visible in all individuals who have this microdeletion, not all individuals affected may show symptoms during early childhood. Testing for 15q24 can be ordered by your doctor, medical geneticist, or genetic counselor. There are many laboratories that offer genetic testing for the condition. These laboratories should be accredited for DNA testing. The testing process will involve either a blood or saliva sample. Results taken about 4-6 weeks depending on the laboratory.

Clinical features of 15q24 microdeletion syndrome happen for all individuals who have this microdeletion. However, it is important to understand that the extent and severity of clinical findings may be different for each person.

Management for 15q24 microdeletion syndrome should be multi-disciplinary with the clinical geneticist and primary care physician playing essential roles in appropriate screening, surveillance and care. At the time of diagnosis of 15q24, the individual should have baseline echocardiograms, audiology ophthalmologic, and developmental assessments. Routine pediatric care, including growth and feeding and routine developmental progress, should be monitored closely

Most mother’s carrying babies with a 15q24 microdeletion have so far not experienced any pregnancy problems, have a normal delivery and only discover that their baby was affected after birth. If a fetus is known to have 15q24 microdeletion syndrome, it is recommended to have fetal echocardiogram (used to scan the baby’s heart) and an ultrasound examination in order to monitor growth and heart defects.

The exact amount of people who have 15q24 microdeletion syndrome is not known, but it is believed that 1 in 42, 000 individuals in the general population have this condition. The rate of 15q24 microdeletion syndrome in individuals with autism spectrum disorder is predicted to be higher at 1-2 in 1000 individuals (or 0.1-0.2%).

As of February 23rd, 2016, 33 people with this rare condition have been described in the medical literature.

The 15q24 microdeletion syndrome is inherited in an autosomal dominant manner, which means that an individual only needs a single copy of the mutation to cause 15q24 and males and females are affected equally. All known cases so far, however, have resulted from new (de novo) deletions in the sperm or egg, meaning that both parents have had normal chromosomes and the chance of having another child with this syndrome in future pregnancies is low (probably <1%) but greater than that of the general population. This risk is slightly larger due to the very small possibility that the deletion occurred during the formation of the egg or sperm cells in a parent, due to either parent having a chromosomal rearrangement or deletion involving 15q24.

The children of individuals who have 15q24 microdeletion syndrome have a 50% chance of inheriting the microdeletion.

It is recommended that both parents undergo a blood test in an attempt to find out why the 15q24 microdeletion occurred. There is nothing the parent did to cause the 15q24 microdeletion and nothing they could have done that would have prevented it from occurring in the individual. No environmental, dietary, or lifestyle factors are known to cause these changes in the chromosome.

Based on the common features of 15q24 microdeletion syndrome, children and adults should receive thorough developmental evaluations, physical, occupational and speech therapies and regular eyesight and hearing tests. Additional genital/cardiac examinations and neurological examination/brain scans are also likely to be required.

People can contact overall support groups and/or registries in order to see if there are ways in which they could donate to 15q24 microdeletion syndrome research.

Check [link url=" http://www.charitynavigator.org/” target=”_blank”> http://www.charitynavigator.org/ to see if groups exist.

Overall Support groups

UNIQUE: Rare Chromosome Disorder Support Group: The rare chromosome disorder support group’s mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.
Contact
P.O.Box 2189, Caterham Surrey CR3 5GN England
Telephone: 44 (0)1883 330766
E-mail: info@rarechromo.org
URL: www.rarechromo.org

Chromosome Disorder Outreach (CDO): CDO’s mission is to provide support and information to anyone diagnosed with a rare chromosome syndrome. They promote research and a positive community understanding of all chromosome disorders. CDO offers an extensive library of available up-to-date articles to members and also maintains a detailed database registry. They also publish periodic newsletters, provide access to research opportunities and interaction with our medical advisory board. CDO offer members connections with others who are coping with the same or similar chromosomal diagnosis through our personalized networking programs.
Contact:
Address: P.O. Box 724, Boca Raton, FL 33429-0724
Phone: 888.236.6880 (toll free)
E-mail: info@chromodisorder.org
Web site: www.chromodisorder.org/

NORD: National Organization of Rare Disorders: is a patient advocacy organization dedicated to individuals with rare diseases. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. Contact:
Address: National Organization for Rare Disorders National Headquarters 55 Kenosia Avenue Danbury, CT 06810
Phone: 203-744-0100
Website: https://globalgenes.org/contact/

Global Genes: is a rare disease patient advocacy organization The non-profit organization promotes the needs of the rare disease community. It has over 500 global organizations of disease parent advocates and foundations
Contact
Address: Global Genes World Headquarters 28 Argonaut, Suite 150 Aliso Viejo, CA 92656
Phone: 949-248-RARE (7273)
Website: https://globalgenes.org/contact/

There is also a facebook group dedicated to 15q24 microdeletion syndrome which offers connections and support for families affected by 15q24 microdeletion syndrome. Search Facebook for "15q24 microdeletion" on www.facebook.com

Testing for 15q24 can be ordered by your doctor, medical geneticist, or genetic counselor. There are many laboratories that offer genetic testing for the condition. These laboratories should be accredited for DNA testing. The testing process will involve either a blood or saliva sample. Results taken about 4-6 weeks depending on the laboratory.

Clinical research can be found on the following:

Unique has detailed disorder guides and offers a platform to connect with other with rare chromosome disorders.

Other names for 15q24 microdeletion syndrome include: 15q24 microdeletion, 15q24 deletion and interstitial deletion of chromosome 15q24.

It is common that babies with 15q24 have feeding difficulties. Feed thickeners, and prescribed medicines are used to stop gastric acid and control reflex. If these measures are not enough, some babies may undergo a "fundoplication", which is a surgical operation that improves the valve movement between the stomach and food passage. Children with 15q24 microdeletion syndrome can be prone to recurrent ear infections and sensorineural or conductive hearing loss. Conductive hearing loss occurs when sound is not conducted efficiently through the outer ear canal to the eardrum and the tiny bones of the middle ear. Conductive hearing loss due to fluid in the middle ear usually resolves as children get older, however persistent fluid in the middle ear can reduce a child’s hearing at a time that is critical for speech and language development and if this fluid persists and many children will need a "grommet" a small ventilation tube which is inserted into the eardrum. The most common genital anomaly found in boys is hypospadias (where the opening of the penis is on the underside, and not at the tip, of the penis) which can be surgically repaired. Another genital anomaly found in males is cryptorchidism (where the testes fail to descend into the scrotum), which can be brought down also by a straightforward surgical operation.

A hernia may occur in individuals with 15q24 microdeletion syndrome. A hernia occurs when an internal part of the body, such as an organ, pushes through a weak spot or tear in the muscle or surrounding tissue wall. A small surgical operation can be done to repair larger hernias or ones that do not disappear. Many individuals also experience constipation. Dietary changes and/or medication can help to manage this problem. Four people in the literature affected with this condition have had an imperforate anus, which is when the opening to the anus is missing or blocked, which can be corrected surgically. Heart problems have also been reported in a few children with 15q24 microdeletion syndrome. Some of these problems can be corrected surgically at the first year of life. Brain MRI scans are also regularly performed on children with 15q24 microdeletion syndrome. Many of these show normal brain structure, twelve children have been shown to have structural changes, some of which may be related to seizures.

Although males and females should be affected equally by this condition, 76% of known cases of 15q24 microdeletion syndrome are males (there are 33 known cases as of February 23rd, 2016).

The reason for the higher percentage of males is not yet clear, but could be due to the small sample size of reported cases or a higher referral rate of boys who have been diagnosed due to unusual genital findings, a finding which can be seen in males with 15q24 microdeletion syndrome.

There are good umbrella support organizations and/or registries that could benefit individuals with this disorder and their families.

UNIQUE: Rare Chromosome Disorder Support Group: The rare chromosome disorder support group’s mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.
Contact
P.O.Box 2189, Caterham Surrey CR3 5GN England
Telephone: 44 (0)1883 330766
E-mail: [link url=" info@rarechromo.org” target=”_blank”> info@rarechromo.org
URL: [link url="www.rarechromo.org” target=”_blank”>www.rarechromo.org

Chromosome Disorder Outreach (CDO): CDO’s mission is to provide support and information to anyone diagnosed with a rare chromosome syndrome. They promote research and a positive community understanding of all chromosome disorders. CDO offers an extensive library of available up-to-date articles to members and also maintains a detailed database registry. They also publish periodic newsletters, provide access to research opportunities and interaction with our medical advisory board. CDO offer members connections with others who are coping with the same or similar chromosomal diagnosis through our personalized networking programs.
Contact:
Address: P.O. Box 724, Boca Raton, FL 33429-0724
Phone: 888.236.6880 (toll free)
E-mail: info@chromodisorder.org
Web site: www.chromodisorder.org/

NORD: National Organization of Rare Disorders: is a patient advocacy organization dedicated to individuals with rare diseases. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.
Contact:
Address: National Organization for Rare Disorders National Headquarters 55 Kenosia Avenue Danbury, CT 06810
Phone: 203-744-0100
Website: https://rarediseases.org/

Global Genes: is a rare disease patient advocacy organization The non-profit organization promotes the needs of the rare disease community. It has over 500 global organizations of disease parent advocates and foundations
Contact
Address: Global Genes World Headquarters 28 Argonaut, Suite 150 Aliso Viejo, CA 92656
Phone: 949-248-RARE (7273)
Website: https://globalgenes.org/contact/

There is also a facebook group dedicated to 15q24 microdeletion syndrome which offers connections and support for families affected by 15q24 microdeletion syndrome. Search Facebook for "15q24 microdeletion" on [link url="www.facebook.com” target=”_blank”>www.facebook.com

Feel free to ask your genetic counsellor, geneticist, or primary doctor if there is someone else out there they know who has the disease and can act as a peer mentor for support.