[Genotype and phenotype analysis of a child with partial 18q deletion syndrome].

doi:10.3760/cma.j.issn.1003-9406.2017.04.022

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Article

[Genotype and phenotype analysis of a child with partial 18q deletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2017

Shi Shanshan, Guo Li, Zha Qingbing, Shi Zijian, Yang Yandong

Abstract excerpt

OBJECTIVE: To explore the genotype-phenotype correlation of a child with chromosome 18q deletion syndrome. METHODS: G-banded karyotyping, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed on the child with abnormal phenotypes. Genotype-phenotype correlation was explored following accurate mapping of the breakpoints on chromosome 18q. SNP array was also...

Topics

Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 18
Genetic Association Studies
Genotype
Humans
Infant
Phenotype
Polymorphism, Single Nucleotide

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Identifiers

PMID: 28777861
DOI: 10.3760/cma.j.issn.1003-9406.2017.04.022

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