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Segregation of an X ring chromosome in two generations.

A 45,X/46,X,r(X) mosaicism was found in a mother and daughter. Characterisation of the ring by banding studies showed that breakpoints had occurred at bands Xp13 and Xq27. It is confirmed that women heterozygotes for partial deficiencies of the short arm of an X chromosome are fertile. Although the...

詳細記述

保存先:
書誌詳細
主要な著者: Dallapiccola, B, Bruni, L, Boscherini, B, Pasquino, A M, Chessa, L, Vignetti, P
フォーマット: Artigo
言語:Inglês
出版事項: 1980
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1048575/
https://ncbi.nlm.nih.gov/pubmed/7205906
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