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Interstitial deletion of 6q without phenotypic effect
Author(s) -
Hansson Kerstin,
Szuhai Karoly,
Knijnenburg Jeroen,
van Haeringen Arie,
de Pater Joke
Publication year - 2007
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.31783
Subject(s) - karyotype , genetics , comparative genomic hybridization , biology , chromosome , bicuspid aortic valve , phenotype , population , euchromatin , medicine , gene , aortic valve , heterochromatin , environmental health
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). © 2007 Wiley‐Liss, Inc.