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Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.

A newborn female infant presented with the classical picture of 18 trisomy syndrome. Her karyotyping was 47,XX,+der(18)t(12;18)(q24;q21)mat. The mother was a balanced reciprocal translocation carrier and so too was one of the two maternal uncles of the proposita, indicating that the translocation wa...

詳細記述

保存先:
書誌詳細
主要な著者: Fried, K, Bar-Yochai, A, Rosenblatt, M, Mundel, G
フォーマット: Artigo
言語:Inglês
出版事項: 1978
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1012829/
https://ncbi.nlm.nih.gov/pubmed/633321
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