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Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development.

We present the case of a mentally normal 7 year old girl with short stature, scoliosis, atrial septal defect, and dysmorphic features including linear pigmented streaks on the forearms and lower legs. Chromosome analysis of cultured fibroblasts showed trisomy 12 in 9% and 13% of cells from two skin...

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Détails bibliographiques
Auteurs principaux: English, C J, Goodship, J A, Jackson, A, Lowry, M, Wolstenholme, J
Format: Artigo
Langue:Inglês
Publié: 1994
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049755/
https://ncbi.nlm.nih.gov/pubmed/8014979
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