Chromosome 4 homozygous Stretch Continued
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Chromosome 4 homozygous Stretch Continued

[From: ] [author: ] [Date: 12-12-23] [Hit: ]
????......

LCSH = Long Contiguous Stretches of Homozygosity


So if there is a long contiguous stretch of homozygosity, and the origin of it had a recessive mutation in PCDH10, then both copies of the chromosome would have that recessive mutation and its effects – problems with axon migration in the forebrain - would occur.



So overall it looks like the following (NOT a diagnosis)

Your daughter has 5.3 million bases (DNA letters, A, C, T, and G) that are identical on both copies of chromosome 4, at region 28.3 on its long (q) arm. In general, there does not seem to be clinical issues with having identical letters in this region. However, there is a gene called PCDH10 in that region that plays a role in wiring up (axonal migration) the forebrain. If the person has identical copies of the gene, and they are faulty (recessive mutation), then there could be a problem, such as an autism spectrum disorder.

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One more question for you - my daughter has always LOVED and begged to eat calcium. Her diet consist of pretty much only milk, cheese, yogurt, and eggs. Could this be due to the cadherin issue mentioned in the report????? :-)

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