Paula and Bobby
Parents of Lillie
Chromosome 17q24.2 - Microdeletion
What is Chromosome 17q24.2 - Microdeletion?
Chromosome 17q24.2 - Microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Four patients with microdeletions were reported by Vergult et al., (2012). They were intelligently disabled, were short and obese, had conductive deafness and mood swings Tjhe genes PRKAR1A and KCNJ2 were deleted as in the Carney complea and Andersen-Tawil syndromes respectively. No facilal pictures were published but they had a similar facial gestalt. The patient reported by Sun et al., (2009) is placed under 'hypertrichosis universalis and hypertrichosis - gingival hyperplasia' - see elsewhere. One of the patients reported by Vergult et al., (2012) had thick skin and ichthyosis and another mottled/translucent skin. Another patient with a microdeletion of 17q24.2-24.3 was reported by Lestner et al., (2012) who again comment that there is some clinical overlap with Andersen-Tawil syndrome, ECG abnormalitues were not seen, and neonatal hypotonia and periodic paralyses were not found.. The patient had, in the neonatal period, lower limb bowing, proptosis, progressive scoliosis, blue sclera, and a small jawRead More
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 17q24.2 - 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 17q24.2 - Microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 17q24.2 - Microdeletion?
The initial testing for Chromosome 17q24.2 - 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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