Paula and Bobby
Parents of Lillie
Chromosome Xq22.3-Q23 - Microdeletion
What is Chromosome Xq22.3-Q23 - Microdeletion?
Chromosome Xq22.3-Q23 - Microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
See under 'Alport syndrome - unusual face - elliptocytosis - MR'. There are however patients with a Xq22.3-q23 microdeletion who just have intellectual disability and minor facial dysmorphism (Gazou et al., 2013). These authors implicate ACSL4 as being causitive.
* This information is courtesy of the L M D.
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What gene changes cause Chromosome Xq22.3-Q23 - 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 Xq22.3-Q23 - Microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome Xq22.3-Q23 - Microdeletion?
The initial testing for Chromosome Xq22.3-Q23 - 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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