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Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region

Chromosome 10p deletion is a rare disorder. This is the largest deletion in chromosome 10p reported to date and the first to be diagnosed in the early neonatal period because of severe clinical manifestations. This rare case might help to understand the genotype‐phenotype spectrum in infants with 10...

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Detalles Bibliográficos
Autores principales: Kim, Saet Byeol, Kim, Young‐Eun, Jung, Ji Mi, Jin, Hye Young, Lim, Yun‐Jung, Chung, Mi Lim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538072/
https://www.ncbi.nlm.nih.gov/pubmed/28781861
http://dx.doi.org/10.1002/ccr3.1070
Descripción
Sumario:Chromosome 10p deletion is a rare disorder. This is the largest deletion in chromosome 10p reported to date and the first to be diagnosed in the early neonatal period because of severe clinical manifestations. This rare case might help to understand the genotype‐phenotype spectrum in infants with 10p deletion.