A subterminal deletion of the long arm of chromosome 10: A clinical report and review | Zendy

Courtens Winnie | Zendy; Wuyts Wim | Zendy; Rooms Liesbeth | Zendy; Pera Sarah Barbera | Zendy; Wauters Jan | Zendy

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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.

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