A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion

Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmon...

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Autors principals: Kang, Jeong-Eun, Park, Mi Young, Cheon, Chong Kun, Lee, Hyoung Doo, Hwang, Sang-Hyun, Yi, Jongyoun
Format: Artigo
Idioma:Inglês
Publicat: The Korean Society for Laboratory Medicine 2012
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3255494/
https://ncbi.nlm.nih.gov/pubmed/22259786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2012.32.1.91
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