Is microcephaly a so-far unrecognized feature of XYY syndrome?

Sylvie Nguyen-Minh; Christoph Bührer; Christoph Hübner; Angela M Kaindl

doi:10.1016/j.mgene.2013.10.013

Is microcephaly a so-far unrecognized feature of XYY syndrome?

Meta Gene. 2014 Jan 31:2:160-3. doi: 10.1016/j.mgene.2013.10.013. eCollection 2014 Dec.

Authors

Sylvie Nguyen-Minh¹, Christoph Bührer², Christoph Hübner¹, Angela M Kaindl³

Affiliations

¹ Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.
² Department of Neonatology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
³ Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany ; SPZ Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany ; Institute of Neuroanatomy and Cell Biology, Charité - Universitätsmedizin Berlin, Campus Mitte, Charitéplatz 1, 10115 Berlin, Germany.

Abstract

•47,XYY syndrome is a frequent sex chromosome aneuploidy.•Overview of characteristic symptoms of 47,XXY•First report of 47,XYY and microcephaly in a preterm child•Brief differential diagnosis of microcephaly.

Keywords: 47,XYY syndrome; Delayed speech development; HAWIK-IV, Hamburg-Wechsler Intelligence test for Children; Hyperactivity; Impulsiveness; Mental retardation; Microcephaly; NCBI, National Center for Biotechnology Information; OFC, occipitofrontal head circumference; OMIM, Online Mendilian Inheritance in Man; array CGH, array comparative genomic hybridization.