Paula and Bobby
Parents of Lillie
Chromosome 12q24 - Microdeletion - Tbx5 and Tbx3
What is Chromosome 12q24 - Microdeletion - Tbx5 and Tbx3?
Chromosome 12q24 - Microdeletion - Tbx5 and Tbx3 is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Alby et al., (2013) reported 3 patients (one a mother-child) with overlapping featues of Holt-Oram and Ulnar-Mammary syndromes. A deletion encompassing both TBX3 and TBX5 was found. Not too the patient reported by Bogarapu et al., (2014 with the same deletion and features of both conditions. There was in addition developmental delay, duplication of central and lateral incisors, duplicated nails on the index fingers, an undeveloped deltoid
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 12q24 - Microdeletion - Tbx5 and Tbx3?
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 12q24 - Microdeletion - Tbx5 and Tbx3?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 12q24 - Microdeletion - Tbx5 and Tbx3?
The initial testing for Chromosome 12q24 - Microdeletion - Tbx5 and Tbx3 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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