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Article

A patient with five chromosomal rearrangements and a 2q31.1 microdeletion.

Clinica chimica acta; international journal of clinical chemistry - 20 Mar 2014

Wang Ting, Mao Jun, Liu Min-Juan, Choy Kwong Wai, Li Hai-Bo, Cram David S, Li Hong, Chen Ying

Abstract excerpt

BACKGROUND: Complex chromosomal rearrangements and chromosomal deletion and duplication syndromes are commonly associated with abnormal clinical phenotypes. The 2q31.1 microdeletion syndrome is a rare cytogenetic event that leads to limb and multi-internal organ anomalies. In this study we investigated the genetic basis of the physical and mental symptoms exhibited by a 4-year-old boy with a suspected 2q31.1...

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Share to Abnormalities, Multiple
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Disorders

Share to Chromosomes, Human, Pair 2

Share to Comparative Genomic Hybridization

Share to In Situ Hybridization, Fluorescence

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Share to Real-Time Polymerase Chain Reaction

Source

Identifiers

PMID: 24412318
DOI: 10.1016/j.cca.2014.01.002

Genes

CHN1
HOXD13
DCAF17
DLX1
DLX2
GAD1
ITGA6

Provenance

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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