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Article

[Phenotypic and genotypic analysis of a fetus carrying an intermediate 22q11.2 deletion encompassing the CRKL gene].

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

Lin Shaobin, Zheng Xiaohe, Gu Heng, Li Mingzhen

Abstract excerpt

OBJECTIVE: To delineate the phenotypic characteristics of 22q11.2 deletion syndrome and the role of CRKL gene in the pathogenesis of cardiac abnormalities. METHODS: G-banded karyotyping, single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization (FISH) were performed on a fetus with tetralogy of Fallot detected by ultrasound. Correlation between the genotype and phenotype was explored after...

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Share to Adaptor Proteins, Signal Transducing
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 22

Share to DiGeorge Syndrome

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Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 28604963
DOI: 10.3760/cma.j.issn.1003-9406.2017.03.018

Genes

CRKL
COMT
HIRA
MAPK1
TBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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