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Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).

A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with part...

詳細記述

保存先:
書誌詳細
出版年:J Med Genet
主要な著者: Niazi, M, Coleman, D V, Saldaña-Garcia, P
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 1978
主題:
オンライン・アクセス:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013665/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/641950/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.15.2.148
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