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Am J Med Genet A. 2007 Jun 15;143A(12):1354-7.

Interstitial deletion of 6q without phenotypic effect.

Author information

1
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. K.B.M.Hansson@LUMC.nl

Abstract

Cytogenetically detectable euchromatic deletions without phenotypic consequences are rarely encountered. We report on a 34-year-old woman with normal intelligence referred for karyotyping because of recurrent abortions. With the exception of a bicuspid aortic valve without hemodynamic consequences, which is a common minor anomaly in the general population, no dysmorphic features were found on physical examination. Conventional chromosome analysis (GTG-banding) revealed an interstitial deletion in the long arm of chromosome 6. With array comparative genomic hybridization (array-CGH) the size of the deletion was estimated to be between 9.9 and 11.6 Mb and the refined karyotype was 46,XX,del(6)(q22.31q23.1).

PMID:
17506100
DOI:
10.1002/ajmg.a.31783
[Indexed for MEDLINE]

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