Paula and Bobby
Parents of Lillie
Chromosome 5q12 - microdeletion
What is Chromosome 5q12 - microdeletion?
Chromosome 5q12 - microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Four patients with a 5q12 microdelation were reported by Jaillard et al., (2011). They has psychomotor retardation, coarse facial features and an ocular phenotype of esotropia, ptosis, hypermetropia in 2) and astigmatism in 2. The nose was large and had a broad tip. Three further patients appeared in the study by Lindstrand et al., (2014). The gene deleted (in one case duplicated) involved PDE4D, the gene involved in acrodysostosis, but in conrast to that condion there was intellectual disability, low body mass, long fingers, toes and arms, a prominent nose and small chin. these features are opposite to those found in acrodysostosis. A patient with a small 5q12-13 deletion reported by Holder Jr and Cheung (2015) had severe growth restriction
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 5q12 - 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 5q12 - microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 5q12 - microdeletion?
The initial testing for Chromosome 5q12 - 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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