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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Vydáno v:	J Med Genet
Hlavní autoři:	Mason, M K, Spencer, D A, Rutter, A
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMJ Publishing Group 1975
Témata:	Research Article
On-line přístup:	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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