Article
Retrieval of aneuploidy by FISH-technique in a case with 46,XX/47,XXX/47,XX,+8.
The Japanese journal of human genetics - 1 Mar 1996
Verma R S, Gogineni S K, Kleyman S M, Mann D N
Abstract excerpt
We report on a 46 year old female with a new chromosomal finding [46,XX/47,XXX/47,XX,+8] who was referred for ovarian failure. The clinical presentation was highly unusual and the patient does not exhibit the characteristic phenotype of trisomy 8 syndrome. Interphase cytogenetics using FISH-technique revealed discrepancies with a different population of cells when compared with its metaphase index. Therefore, it...
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