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

✍ Scribed by Lucie Lafay-Cousin; Eric Payne; Douglas Strother; Judy Chernos; Michael Chan; Francois P. Bernier

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 171 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33119

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✦ Synopsis

Abstract

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 microdeletions and microduplications with less characterized phenotypes. Here we report on an infant diagnosed with Goldenhar syndrome (GS) phenotype who developed an atypical teratoid rhabdoid tumor (AT/RT) of the brain due to a distal deletion of the chromosome 22q11.2 region encompassing the INI1/SMARCB1 tumor suppressor. We also discuss the phenotype of patients with germline deletions of this region and the possible implication of the 22q11.2 region in the GS. © 2009 Wiley‐Liss, Inc.

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