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Article

Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor.

American journal of medical genetics. Part A - 1 Dec 2009

Lafay-Cousin Lucie, Payne Eric, Strother Douglas, Chernos Judy, Chan Michael, Bernier Francois P

Abstract excerpt

Chromosome-specific low copy repeats (LCRs) are implicated in several clinically significant microdeletion and microduplication syndromes. The well-recognized phenotype of DiGeorge/velocardiofacial syndrome (DG/VCF) results from deletions of the long arm of chromosome 22 (22q11.2) mediated by the proximal LCRs in this region. More recent evidence suggests that the distal LCRs within 22q11.2 are also implicated in...

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Source

Identifiers

PMID: 19938088
DOI: 10.1002/ajmg.a.33119

Genes

SMARCB1

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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