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Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome

✍ Scribed by Wolfram Heinritz; Dieter Kotzot; Stefan Heinze; Annegret Kujat; Werner J. Kleemann; Ursula G. Froster

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 169 KB
Volume: 132A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30446

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✦ Synopsis

Abstract

We report on an adult male with Klinefelter phenotype and an isodicentric Y chromosome (47,XX,+idic(Y)(q12)), a combination which has to the best of our knowledge not been reported before. The patient was hospitalized in forensic psychiatry because of repeated delinquency, aggressive, aberrant and inappropriate behavior, and borderline intelligence. Molecular cytogenetic studies (FISH) showed that the SRY gene was present on both ends of the idicY, while there was only one signal for the Yq subtelomere probe. Molecular investigations by multiplex PCR, using STS markers covering the short and long arm of the Y chromosome did not indicate a deletion of Y chromosomal material. Molecular investigations of STR markers located on Xp22.3 and Xq28 indicated paternal origin of the additional X chromosome and an error in paternal meiosis I. Results of FISH analysis and molecular investigations are compatible with a phenotype as described for individuals with a 48,XXYY karyotype and support the findings that isodicentric Y chromosomes are frequently accompanied by other sex chromosomal abnormalities. © 2004 Wiley‐Liss, Inc.

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