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Trisomy 14 mosaicism in a 2 year old girl.

Trisomy 14 mosaicism with 6% trisomic cells in blood and 16% in skin fibroblasts was found in a 2 year 2 month old girl with mild psychomotor retardation, craniofacial dysmorphism, pectus carinatum, curved fifth fingers, retarded bone age, and signs of an ASD. These findings are consistent with the...

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Autors principals: Petersen, M B, Vejerslev, L O, Beck, B
Format: Artigo
Idioma:Inglês
Publicat: 1986
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049549/
https://ncbi.nlm.nih.gov/pubmed/3950941
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