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[Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2015

Pan Qiong, Hu Ping, Ou Jihua, Jin Xin, Zhang Fengting, Hu Yue, Cheng Longfei, Han Liangrong, Ning Ying

Abstract excerpt

OBJECTIVE To analyze a neonate with multiple malformations and to correlate its genotype with phenotype. METHODS The karotypes of the child and her parents were subjected to G-banding chromosome analysis, and array comparative genomic hybridization (array-CGH) was used for fine mapping of the aberrant region. RESULTS The karyotype of the child was ascertained as 46,XX,del(18)(p11.2). Array CGH has identified a...

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PMID: 26418989
DOI: 10.3760/cma.j.issn.1003-9406.2015.05.019

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Source receipt: pubmed, retrieved 7 Sept 2026.

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