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Article

[Clinical and genetic study of a child with mental retardation and multiple congenital anomalies and a 16p13.11 microdeletion].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2016

Wang Huanhuan, Xiao Bing, Ye Hui, Hu Qin, Qiu Wenjuan

Abstract excerpt

OBJECTIVE: To determine the genetic cause for a boy with development delay and multiple congenital anomalies. METHODS: Routine chromosomal banding was performed to analyze the karyotype of the patient and his parents. Single nucleotide polymorphism array (SNP array) was employed to investigate cryptic chromosome aberrations, and quantitative real-time PCR (qPCR) was used to confirm the result. RESULTS: Karyotype...

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Share to Abnormalities, Multiple
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 16

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Share to Oligonucleotide Array Sequence Analysis

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Source

Identifiers

PMID: 27455003
DOI: 10.3760/cma.j.issn.1003-9406.2016.04.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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