Paula and Bobby
Parents of Lillie
Chromosome 16q24.1 - microduplication - FOXF1 involved
What is Chromosome 16q24.1 - microduplication - FOXF1 involved?
Chromosome 16q24.1 - microduplication - FOXF1 involved is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Four unrelated patients with 16q24.1 duplications involving FOXF1 were reported by Dharmadhikari et al., (2014). Note elsewhere for deletions involving this gene which resulted in Alveolar capillary dysplasia and misalignment of the pulmonary veins. This did not occur with the duplications. Speech delay did occur, but intellectual development can be normal. One had pyloric stenosis, mesenterium commune and aplasia of the appendix/. This patients daughter had similar signs including pyloric stenosis, bowel malrotation, aplasia of the caecum and appendix
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 16q24.1 - microduplication - FOXF1 involved?
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 16q24.1 - microduplication - FOXF1 involved?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 16q24.1 - microduplication - FOXF1 involved?
The initial testing for Chromosome 16q24.1 - microduplication - FOXF1 involved 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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