Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.
نویسندگان
چکیده
A familial four breakpoint complex chromosomal rearrangement involving chromosomes 9, 10, and 11 was ascertained through a child with dysmorphic features, hypertrophic cardiomyopathy, and hypotonia. A cryptic insertion, invisible in G banded chromosomes was identified by fluorescence in situ hybridisation (FISH) using chromosome specific libraries. Possible mechanisms of its formation as well as karyotype-phenotype correlation are discussed.
منابع مشابه
Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9 p 22 - > pter and trisomy lOp I 1 . 2 - pter and 1 1 q 21 analysed by dual and triple colour FISH
A familial four breakpoint complex chromosomal rearrangement involving chromosomes 9, 10, and 11 was ascertained through a child with dysmorphic features, hypertrophic cardiomyopathy, and hypotonia. A cryptic insertion, invisible in G banded chromosomes was identified by fluorescence in situ hybridisation (FISH) using chromosome specific libraries. Possible mechanisms of its formation as weli a...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 34 8 شماره
صفحات -
تاریخ انتشار 1997