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What is Chromosome 4q Deletion Syndrome?
Chromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted. This can occur either in the middle of the chromosome arm (“interstitial”) or at the end (“terminal”), and have varying effects.

The severity of phenotypic/clinical characteristics depends upon the site of chromosomal deletion and quantity of chromatin lost. 4q chromosomal loss is often associated with intellectual disability (ID), craniofacial dysmorphism, rotated or low-set ears, cleft palate (CP), micrognathia, congenital heart defects (CHD), craniofacial, skeletal and digital abnormalities, and occasionally, autism spectrum disorder (ASD), behavioural disorders, and developmental delay.

What is the prevalence of Chromosome 4q Deletion Syndrome?
Terminal deletions of chromosome 4q are a rare event with an approximate incidence of 1 in 100,000. Accurate prevalence information for interstitial deletion is currently unavailable.

How Chromosome 4q Deletion Syndrome is diagnosed?
Most often, dysmorphic features will prompt a pediatrician or other doctor to order genetic testing. A karyotyping test is generally able to find the gross chromosome deletion. Other tests such as fluorescent leveled in situ hybridization technique (FISH), using a specific DNA probe for chromosome 4q, can determine deletion location and specific breakpoints.

Is there any specific gene/pathway in Chromosome 4q Deletion Syndrome that has been identified?
The gene that causes this disorder is the absence of the chromosome 4q.

How is Chromosome 4q Deletion Syndrome treated?
Medications such as CoQ10 are available to patients to relieve symptoms may be taken to help with reflux and growth issues, particularly in children. Over the counter medications such as ibuprofen and tylenol may also be taken as painkillers. Multivitamin supplements and citrus fruits are suggested for all patients with chromosome 4q deletion syndrome.

Are there any clinical trials underway for Chromosome 4q Deletion Syndrome?
There are no clinical trials currently underway for chromosome 4q deletion syndrome.

How can RareShare be helpful to Chromosome 4q Deletion Syndrome patients and families?
There are currently 141 members in the Chromosome 4q Deletion Syndrome RareShare Community. There are 25 active discussion topics that provide information, research, and potential opportunities to connect patients, health workers, and the families of those patients.

A tip for living with the disorder from a member:
“Be patient and always let them know what is going to happen ahead of time. Focus on their strengths and celebrate these. Our daughter has motor planning issues so she requires us to physically help her to do new movements/tasks. After a couple of assisted efforts she is then able to do it independently. Learning through observation does not really work for her. Provide them with opportunities to develop independence. Our little girl is showing us she is much more capable than we give her credit for. Place them in a school system that focuses on and promotes social/emotional development over everything else. Our girl attends a Montessori school and is thriving! At 4 and a half she becoming quite the independent little miss! :) Love, love, love them :)”


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