Chromosome 15q13.3 Deletion syndrome

What is Chromosome 15q13.3 Deletion syndrome?

Chromosome 15q13.3 Deletion syndrome is a rare disease. It is also known as Chromosome 15q13.3 Microdeletion Syndrome.

* This information is courtesy of the L M D.

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What gene changes cause Chromosome 15q13.3 Deletion syndrome?

The syndrome is inherited in the following inheritance pattern/s:


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 that occurs during the reproductive process.

OMIM Number - 612001 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
CHRNA7 - 15q13.3
KLF13 - 15q13.3

What are the main symptoms of Chromosome 15q13.3 Deletion syndrome?

The typical symptoms of the syndrome are:
Short stature, Hypertelorism, Cognitive impairment, Autosomal dominant inheritance, Melanocytic nevus, Seizure, Clinodactyly of the 5th finger, Malformation of the heart and great vessels, Abnormal facial shape, Epicanthus, Downslanted palpebral fissures, Brachydactyly, Frontal bossing, Synophrys, Strabismus, Incomplete penetrance, Phenotypic variability, Macrocephaly, Microcephaly, Behavioral abnormality, Autism, Attention deficit hyperactivity disorder, Abnormality of the pinna, Abnormality of the palpebral fissures, Specific learning disability, Muscular hypotonia, Low-set, posteriorly rotated ears, Abnormal nasal morphology, Intellectual disability, moderate, Intellectual disability, severe, Intellectual disability, mild

How does someone get tested for Chromosome 15q13.3 Deletion syndrome?

The initial testing for Chromosome 15q13.3 Deletion syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.

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