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Chromosome 7p22 - Microdeletion
What is Chromosome 7p22 - Microdeletion?
Chromosome 7p22 - Microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
In light-microscopically visible terminal 7p deletions limited facial anomalies (broad and flat nasal bridge, low set malformed ears), digital anomalies, cardiac anomalies and hypoplastic genitalia have been reported (Chotia et al., 1994).
Joly et al., (2001) reported a newborn with a cryptic 7pter deletion and also a partial trisomy for 16qter. Symptoms were dolichocephaly, hypertelorism, micrognathia, vertebral anomalies, and anteriorly placed anus.
Cardiac malformation, including tetralogy of Fallot, was emphasized, plus the role of SNX8, by Vanzo et al., (2014).
Yu et al., (2017) described five patients with variable size deletions (0.99 to 3.37 Mb) in the 7p22.3-p22.2 region, encompassing EIP3B, CHST12, LFNG, BRAT1, TTYH3, AMZ1, and GNA12 genes. Clinical characteristics included broad nasal root, prominent forehead and glabella, arched eyebrows, hypertelorism, language delay, and cognitive impairment.
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 7p22 - 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 7p22 - Microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 7p22 - Microdeletion?
The initial testing for Chromosome 7p22 - 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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