Paula and Bobby
Parents of Lillie
Chromosome 12q13.11 - Microdeletion
What is Chromosome 12q13.11 - Microdeletion?
Chromosome 12q13.11 - Microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
The patient reported by Gimelli et al., (2011), was seriously retarded, with repetitive movement of tongue and fingers, a cleft palate, large mouth and a cleft between lobule and helix. Okamoto et al., (2011) reported a patient with a submicroscopic 12q13.1 mutation who had a Fallot tetralogy, severe kyphoscoliosis, intellectual disability and hypodontia. There was camptodactyly of ring and middle fingers and radial head dislocation. The HOXC cluster genes were deleted.
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 12q13.11 - 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 12q13.11 - Microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 12q13.11 - Microdeletion?
The initial testing for Chromosome 12q13.11 - 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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