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 99 and 11.6 Mb and the refined karyotype was 46,XX,del(6)(q22.31q23.1).

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American Journal of Medical Genetics. Part A
Erasmus MC: University Medical Center Rotterdam

Hansson, K., Szuhai, K., Knijnenburg, J., van Haeringen, A., & de Pater, J. (2007). Interstitial deletion of 6q without phenotypic effect. American Journal of Medical Genetics. Part A, 143(12), 1354–1357. doi:10.1002/ajmg.a.31783