Paula and Bobby
Parents of Lillie
Chromosome 6q25 - Microdeletion
What is Chromosome 6q25 - Microdeletion?
Chromosome 6q25 - Microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Two of the 4 patients reported by Nagamani et al., (2009) had submicroscopic 6q25.2-6q25.3 deletions. The main features were microcephaly, developmental delay, hearing loss, facial dysmorphism and deafness (sensori-neural). Hoyer et al., (2012) looked at 887 unselected patients with unexplained intellectual disability and foun 0.9% with mutations of deletions of ARID1B.
Six individuals were reported by Halgren et al., (2012), who emphasize CNS abnormalities in these patients - no pictures were shown.
A familly with 3 affected sibs, born to cousin parents was reported by Ben-Salem et al., (2016) .One of the parents was suggested to be a gonadal mosaic for the mutation. The clinical picture included mild to severe intellectual disability, low anterior hairline, coarse face, thick eyebrows, broad nasal tip, lage mouth and thick lower lip. There was also hypertrichosis.
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 6q25 - 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.
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 6q25 - Microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 6q25 - Microdeletion?
The initial testing for Chromosome 6q25 - 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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