title: Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor.
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.
authors: Division of Pediatric Oncology and Bone Marrow Transplantation, Alberta Children's Hospital, 2888 Shaganappi Trail NW, Calgary, AB, Canada T3B 6A8. lucie.lafay-cousin@albertahealthservices.ca
authors: Lucie
authors: L
authors: Lafay-Cousin
authors: Eric
authors: E
authors: Payne
authors: Douglas
authors: D
authors: Strother
authors: Judy
authors: J
authors: Chernos
authors: Michael
authors: M
authors: Chan
authors: Francois P
authors: FP
authors: Bernier
mesh_terms: D001932:Brain Neoplasms / Q000150:complications* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006053:Goldenhar Syndrome / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D011247:Pregnancy; D018335:Rhabdoid Tumor / Q000150:complications* / Q000235:genetics; D013724:Teratoma / Q000150:complications* / Q000235:genetics