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A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).

A case of partial trisomy 9 is described, conforming that this will produce a recognizable syndrome of a characteristic facies with deep-set eyes and an unusual shape of the nose. Failure of secondary sexual characteristics to develop appears to be a feature in adults. In this case the mother had a...

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Опубликовано в: :J Med Genet
Главные авторы: Mason, M K, Spencer, D A, Rutter, A
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Publishing Group 1975
Предметы:
Online-ссылка:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013298/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1177287/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.12.3.310
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