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Article

Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.

Journal of human genetics - 1 Aug 2010

Ji Taoyun, Wu Ye, Wang Huifang, Wang Jingmin, Jiang Yuwu

Abstract excerpt

Jacobsen syndrome (JBS) is a haploinsufficiency syndrome caused by partial deletion of the long arm of chromosome 11. It is characterized by developmental delay (DD)/mental retardation (MR), physical growth retardation, facial dysmorphism, visceral malformations and thrombocytopenia. We report two JBS patients from China out of a total of 451 patients with unexplained DD/MR. The genotypes of these patients were...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20520618
DOI: 10.1038/jhg.2010.51

Genes

NCAPD3
NTM
OPCML
SNX19
THYN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.PMID 20520618Read ↗

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