Paula and Bobby
Parents of Lillie
What is 9p21.1 microdeletion?
9p21.1 microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Koufaris et al. (2016) report a de novo a de novo 258 kb microdeletion (chr9:28750321-29009319, Hg19) in a patient with congenital talipes equinovarus, macrocephaly, long expressionless face, hypertelorism, high nasal bridge, thin upper lip, broad palate, squared-off jaw, broad feet and learning difficulties. The deletion included a LINGO2 gene and miRNA-coding genes MIR873 and MIR876.
* This information is courtesy of the L M D.
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What gene changes cause 9p21.1 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 9p21.1 microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for 9p21.1 microdeletion?
The initial testing for 9p21.1 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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