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Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region
Author(s) -
Kim Saet Byeol,
Kim YoungEun,
Jung Ji Mi,
Jin Hye Young,
Lim YunJung,
Chung Mi Lim
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1070
Subject(s) - medicine
Key Clinical Message 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.

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