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Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat.

The case is presented of an infant who was diagnosed clinically as trisomy 18 with pseudohermaphroditism. Cytogenetic studies revealed an extra chromosome which represented a translocation chromosome derived from a balanced, reciprocal translocation between chromosomes 16 and 18: [der(18),t(16;18)(p...

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Pubblicato in:J Med Genet
Autori principali: Stern, L M, Mureh, A R
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 1975
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013296/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1177285/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.12.3.305
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