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A case of de novo duplication of 15q24-q26.3

Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis a...

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Detalles Bibliográficos
Autores principales: Kim, Eun Young, Kim, Yu Kyong, Kim, Mi Kyoung, Jung, Ji Mi, Jeon, Ga Won, Kim, Hye Ran, Sin, Jong Beom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3174363/
https://www.ncbi.nlm.nih.gov/pubmed/21949522
http://dx.doi.org/10.3345/kjp.2011.54.6.267