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Am J Med Genet A. 2006 Feb 15;140(4):402-9.

A subterminal deletion of the long arm of chromosome 10: a clinical report and review.

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1
Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium. winnie.courtens@ua.ac.be

Abstract

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.

PMID:
16419133
DOI:
10.1002/ajmg.a.31053
[Indexed for MEDLINE]
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