Chromosome 2p14-P15 - Microdeletion

What is Chromosome 2p14-P15 - Microdeletion?

Chromosome 2p14-P15 - Microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Two unrelated patients with this deletion were reported by Wohlleber et al., (2011). They had speech delay and mild global retardation. Facially, there was slightly hooded eyes, a thin upper lip and a slightly bulbous nasal tip. One had sensorineural deafness. There are 11 known genes in the area.
Mathieu et al. (2017) described four unrelated male patients with 2p14 microdeletions (2,17-3,3 Mb size), among whom three carried proximal 2p14 microdeletions not including OTX1 gene and one carried a more distal 2p14p15 microdeletion including this gene. They all presented with intellectual disability and dysmorphic features, including dolichocephaly, large and squared forehead, synophrys, widely spaced eyes, hooded eyelids, thin lips, small mouth with down-turned corners, high arched palate, wide spaced teeth, large and low set ears, and short neck. Three patients had sensorineural hearing loss and one patient had cardiomyopathy. Previously unreported features included glaucoma, retinopathy, lower limb spasticity and mild midline abnormalities, such as short corpus callosum, hypospadias and anteriorly placed anus.

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* This information is courtesy of the L M D.

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What gene changes cause Chromosome 2p14-P15 - Microdeletion?

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

Microdeletion - Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.

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 Chromosome 2p14-P15 - Microdeletion?

The typical symptoms of the syndrome are:

How does someone get tested for Chromosome 2p14-P15 - Microdeletion?

The initial testing for Chromosome 2p14-P15 - 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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