Cleft palate in a rare case of Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
Mina HurChang Suk Ki

Abstract

Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism has been rarely reported, and its phenotypic features, compared with those of the classic type, have not been well delineated. We describe a newborn baby with phenotypic abnormalities, including cleft palate and low-set ears. The cytogenetic analysis of peripheral blood lymphocytes showed a karyotype of 48,XXXY[36]/46,XY[4]. To the best of our knowledge, this is the first case in which 48,XXXY/46,XY mosaicism was related to the congenital anomaly of cleft palate. This case underscores that cytogenetic analysis should be a mandatory workup for the patient with cleft palate and that cleft palate may be a rare clinical presentation of the variant Klinefelter syndrome.

References

Aug 13, 1976·Science·H A WitkinM Stocking
Apr 1, 1988·American Journal of Medical Genetics·T I FaragR Uma
Mar 1, 1987·Andrologia·M LeipoldtW Engel
Jan 1, 1971·Hereditas·B EkwallJ Reitalu
Jan 6, 1996·BMJ : British Medical Journal·C H GravholtJ Hansen
Aug 1, 1997·Annals of Plastic Surgery·H V VelidedeoğluY Türkgüven
Jan 22, 1998·The Journal of Clinical Endocrinology and Metabolism·C ForestaC Scandellari
Dec 6, 2001·Trends in Molecular Medicine·M A Aldred
Feb 8, 2003·The Journal of Clinical Endocrinology and Metabolism·Anders BojesenClaus Højbjerg Gravholt
Jan 15, 2004·Human Molecular Genetics·Philip Stanier, Gudrun E Moore
Jan 20, 2004·Journal of Medical Genetics·A C B MarçanoP Stanier
Jul 21, 2004·Lancet·Fabio LanfrancoEberhard Nieschlag
Dec 24, 2005·Asian Journal of Andrology·Anurag MitraSatish Kumar Gupta
Jun 21, 2007·The Journal of Clinical Endocrinology and Metabolism·Elena VoronaEberhard Nieschlag

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Citations

Jul 5, 2013·Annals of Laboratory Medicine·Mi-Ae JangChul Won Jung
Oct 28, 2020·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Bahar ÖzcabıAyla Güven

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