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Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3)

We describe a five-year-old proband presented with Dandy-Walker malformations, right microopthalmia, hamstring contractures, undescended testis with absence of testis in right scrotum in addition to typical trisomy 9p clinical features. Routine cytogenetic studies with GTG - banding showed 46,XY,der...

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Detalhes bibliográficos
Main Authors: Vundinti, Babu Rao, Kerketta, Lily, Korgaonkar, Seema, Ghosh, Kanjaksha
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3168152/
https://ncbi.nlm.nih.gov/pubmed/21957340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.32033
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