Interstitial deletion of 6q without phenotypic effect.
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).
Hansson
Kerstin
K
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. K.B.M.Hansson@LUMC.nl
Szuhai
Karoly
K
Knijnenburg
Jeroen
J
van Haeringen
Arie
A
de Pater
Joke
J
D000328:Adult; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D010641:Phenotype