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Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.

Prometaphase chromosomes from a 16 year old boy with hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome) showed a tiny chromosome fragment attached to the long arm of one chromosome 1 without a visible reciprocal translocation chromosome. Chromosome painting with libraries from chromosome...

詳細記述

保存先:
書誌詳細
主要な著者: Schinzel, A, Lorda-Sanchez, I, Binkert, F, Carter, N P, Bebb, C E, Ferguson-Smith, M A, Eiholzer, U, Zachmann, M, Robinson, W P
フォーマット: Artigo
言語:Inglês
出版事項: 1995
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051777/
https://ncbi.nlm.nih.gov/pubmed/8825924
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