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Article

Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome.

European journal of medical genetics - 1 Jan 2000

Naik Swati, Riordan-Eva Elliott, Thomas N Simon, Poole Rebecca, Ashton Mark, Crolla John A, Temple I Karen

Abstract excerpt

We present an infant with a de novo cytogenetically visible interstitial deletion of approximately 21.9Mb involving chromosome bands 7p15.1-7p12.1, with the loss of 119 genes confirmed by array CGH. The infant had a ventricular septal defect, hand and skull anomalies, and hyperglycaemia compatible with haploinsufficiency of TBX20, GLI3, and GCK genes, respectively. In addition, the infant had some features...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20933618
DOI: 10.1016/j.ejmg.2010.09.006

Genes

GRB10
GCK
GLI3
TBX20

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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