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Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases
Author(s) -
Le Caignec Cédric,
De Mas Philippe,
Vincent MarieClaire,
Bocéno Michelle,
Bourrouillou Georges,
Rival JeanMarie,
David Albert
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30409
Subject(s) - subtelomere , fluorescence in situ hybridization , comparative genomic hybridization , chromosome , biology , phenotype , fish <actinopterygii> , genetics , gene duplication , microbiology and biotechnology , gene , fishery
Thirty patients have been described with cytogenetically visible deletion of the short arm of chromosome 6. However, subtelomeric 6p deletion detected by subtelomeric specific probes has been reported only twice. We report two new patients with terminal 6p deletion detected by subtelomeric screening using fluorescence in situ hybridization (FISH). The two patients exhibited mental retardation, ocular abnormalities, hearing loss, and a characteristic facial appearance. Detailed FISH analyses with probes covering the distal 6p25 region estimated the size of the terminal deletions to ≈5.5 Mb and ≈4.8 Mb. Array‐based comparative genomic hybridization (array CGH) was used to confirm the cryptic deletions. Most patients with subtelomeric defects lack a characteristic phenotype. However, some of the subtelomeric deletions result in a specific phenotype, which can direct the clinician towards the diagnosis. Submicroscopic 6p deletion appears to be a recognizable clinical phenotype, and this region should be thoroughly investigated with FISH probes, including at least a subtelomeric 6p probe and a probe covering FOXC1 , for patients presenting with a characteristic facial appearance, ocular abnormalities, predominantly anterior‐chamber eye defects, hearing loss, and mental retardation. © 2004 Wiley‐Liss, Inc.