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A subterminal deletion of the long arm of chromosome 10: A clinical report and review
Author(s) -
Courtens Winnie,
Wuyts Wim,
Rooms Liesbeth,
Pera Sarah Barbera,
Wauters Jan
Publication year - 2006
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.31053
Subject(s) - subtelomere , breakpoint , phenotype , chromosome , fluorescence in situ hybridization , genetics , long arm , gene deletion , fish <actinopterygii> , biology , karyotype , microbiology and biotechnology , gene , mutant , fishery
We report on a girl with mental retardation, dysmorphic features, and behavioral problems. A small terminal deletion of the long arm of chromosome 10 was detected by subtelomeric fluorescence in situ hybridization (FISH) studies in all analyzed metaphases. The deletion was shown to be a de novo terminal deletion of approximately 6.1 Mb, with the deletion breakpoint localized at band 10q26.2, between BAC probes RP11‐498K22 and RP11‐42K2. A subterminal 10q deletion as found in the present patient has, to our knowledge, only been reported in 15 patients (including 8 familial cases). We review the clinical and behavioral phenotype of these patients with “pure” subterminal 10q deletion. © 2006 Wiley‐Liss, Inc.