Paula and Bobby
Parents of Lillie
What is 1p13.2 microdeletion?
1p13.2 microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Linhares et al. (2016) reported a patient with 1p13.2 microdeletion and clinical features suggestive of Noonan Syndrome. In infancy the patient presented with hypotonia and feeding difficulties. He never learned to write or to read. As an adult he had short stature, intellectual disability, ptosis, low posterior hairline, broad neck, excess of pigmented nevi resembling lentigines, pectus excavatum and scoliosis. Additional features were patellar chondromalacia, osteoporosis, asymmetry of the lower limbs, nephrolithiasis, hypercholesterolemia and primary hypothyroidism. Echocardiography was normal. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented with some characteristics of Noonan syndrome. In all these cases, the deleted region included the NRAS gene.
* This information is courtesy of the L M D.
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What gene changes cause 1p13.2 microdeletion?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of 1p13.2 microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for 1p13.2 microdeletion?
The initial testing for 1p13.2 microdeletion 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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