Paula and Bobby
Parents of Lillie
Chromosome 1p36 Deletion syndrome
What is Chromosome 1p36 Deletion syndrome?
Chromosome 1p36 Deletion was identified in the 1990’s, although cases were recorded as early as the 1980’s. It is a rare chromosomal deletion syndrome.
Severe intellectual disability is one of the main symptoms of the syndrome. Affected individuals also generally have limited to absent speech development and ability. Behavioral issues are also a common feature of this rare disease.
What gene changes cause Chromosome 1p36 Deletion syndrome?
The syndrome is caused due to the loss of a small part of chromosome 1.
Only around 20% of the cases diagnosed are inherited as a result of a parent who carries a balanced translocation. The remainder are de novo or new deletions.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Chromosome 1p36 Deletion syndrome?
Facial and physical characteristics include a small head, large and broad forehead, a pointed chin and flat nasal bridge. Individuals may also experience hearing and vision loss.
Generally individuals experience severe speech delay and many develop limited to zero speech. Low muscle tone is a serious symptom in infancy and may also affect an infant’s ability to feed.
Other health conditions associated with the syndrome include seizures, and heart defects (noncompaction cardiomyopathy being one example).
How does someone get tested for Chromosome 1p36 Deletion syndrome?
The initial testing for Chromosome 1p36 deletion syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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