asmi
Forum Hero
Topics: 1043
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parents of a daughter who is ataxic and has seizures , who also have strange affect i.e she laughs a lot .Her genotype is normal with 46 xx and there is no chromosomal deletion .What is the syndrome ?
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| Gul
Forum Elite
Topics: 9
Posts: 259
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Angleman syndrome
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| asmi
Forum Hero
Topics: 1043
Posts: 4,609
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| Gul
Forum Elite
Topics: 9
Posts: 259
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Today is the syndrome day, isnt it asmi
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| asmi
Forum Hero
Topics: 1043
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gul iam going crazy with these syndromes :wink:
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| Malaysian
Forum Guru
Topics: 28
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Isn't there chromosomal deletion in angelman??I think its chr.17???
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| Alina T
Forum Elite
Topics: 17
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it's crs 15, maternal imprinting.
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| Malaysian
Forum Guru
Topics: 28
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and whats the basis behind the maternal imprinting/paternal imprinting???I was under the impression if the father's genes are deleted its called prader-willi and if the mother's genes are deleted then angelmann' develops and so imprinting meaning depends on the genes missing from the parents???
Thanks for correcting my chr.17......its awful to remember so much of chr. of genetic disorders plus the chr. the different protooncogene/tumour suppressor genes!!!Anyone has a easy/efficient mnemonic to remember some of the major ones let us know!!!!Bye.
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| Alina T
Forum Elite
Topics: 17
Posts: 388
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yes, u got that right. Angelman gene in encoded on chr 15, and is silenced on the paternal chr and active on the maternal chr.
Any event that leads to the absence of the maternal gene gives rise to Angelman syn: a deletion of A gene or even a paternal 15 disomy. (father has it, but it is inactive).
I insisted on this aspect b/c I found a related q somewhere and I only got it after they emphasized this aspect.
yes, those chr are awful. but they're nothing compared to those AR enzyme deffects... Is there any secret in memorizing those???
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There are 3 types of people: those who make things happen, those who watch things happen, and those who wonder what happened.
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