Thanks so much for responding to my previous question! Ok, so here is what the report says:
A region of homozygosity of 5.3 MB in size was detected on chromosome 4q28.3 (base pair 134085284-139399303). This region does not appear to have known imprinted genes (1) nor a record of clinically-relevant uniparental disomy (UPD). However, it contains PCDH10, a gene involved in rare instances of ASD-associated homozygous deletions (2,3). This is a cadherinfamily member required for axonal migration in the forebrain and possibly learning (2,3). There is at least a theoretical possibility that it may be inactivated by the unmasking of recessive mutations resulting from LCSH.
Intrepretation please :-) I would be soooo appreciative !
A region of homozygosity of 5.3 MB in size was detected on chromosome 4q28.3 (base pair 134085284-139399303). This region does not appear to have known imprinted genes (1) nor a record of clinically-relevant uniparental disomy (UPD). However, it contains PCDH10, a gene involved in rare instances of ASD-associated homozygous deletions (2,3). This is a cadherinfamily member required for axonal migration in the forebrain and possibly learning (2,3). There is at least a theoretical possibility that it may be inactivated by the unmasking of recessive mutations resulting from LCSH.
Intrepretation please :-) I would be soooo appreciative !
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Let me start by saying that I am not a doctor, and I am not trying to diagnose anyone. I am giving an educated shot at figuring out what the test results are saying, to try to help you understand the results and thereby ask the doctors better questions.
My original answer was too long
Homozygosity = a given region on both copies of the same chromosome are the same
MB = megabases, or million base pairs. In simpler terms, a million “letters” of DNA.
q = Queen arm. A chromosome is usually depicted as an X, but many chromosomes are not joined at their centers; when they are joined higher, then the bottom “arms” are longer than the upper “arms”. The longer arms are termed Queen (q) arms and the shorter arms are termed petite (p) arms.
See this diagram, which shows chromosome 4 having a longer bottom arm (Q arm) and the position of 28.3 on it.
http://upload.wikimedia.org/wikipedia/co…
So within the region numbered 28.3 of the queen (long, bottom) arm of chromosome 4 (as per the above diagram), there is a stretch of about 5.3 million DNA letters (A, C, T, and G) that is identical on both copies of chromosome 4.
UPD = “Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copies from the other parent.” (Wikipedia)
My original answer was too long
Homozygosity = a given region on both copies of the same chromosome are the same
MB = megabases, or million base pairs. In simpler terms, a million “letters” of DNA.
q = Queen arm. A chromosome is usually depicted as an X, but many chromosomes are not joined at their centers; when they are joined higher, then the bottom “arms” are longer than the upper “arms”. The longer arms are termed Queen (q) arms and the shorter arms are termed petite (p) arms.
See this diagram, which shows chromosome 4 having a longer bottom arm (Q arm) and the position of 28.3 on it.
http://upload.wikimedia.org/wikipedia/co…
So within the region numbered 28.3 of the queen (long, bottom) arm of chromosome 4 (as per the above diagram), there is a stretch of about 5.3 million DNA letters (A, C, T, and G) that is identical on both copies of chromosome 4.
UPD = “Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copies from the other parent.” (Wikipedia)
keywords: homozygous,Stretch,Continued,Chromosome,Chromosome 4 homozygous Stretch Continued