Research from University Medical Center provide new insights into syndrome
2007 SEP 4 -- New research, "Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins," is the subject of a report. According to recent research from Utrecht, Netherlands, "Klinefelter syndrome (KS; 47, XXY) is characterized by increased body height, hypergonadotrophic hypogonadism, and infertility. We describe a patient with a variant KS (47,X,i(Xq),Y) who has a twin brother with a 46,XY karyotype." "Molecular studies showed that the twins were monozygotic. The presence of an isochromosome Xq in one of two monozygotic twins allows precise investigation of its phenotypic effect. The patient was somewhat shorter (3.5 cm) and had a smaller volume of the testes (8 vs. 18 ml) as compared to his twin brother. Furthermore he had increased gonadotrophin levels and an extreme oligoasthenoteratozoospermia (OAT). These data support the view that genes on Xp cause increased body height and genes on Xq cause infertility in KS," wrote D. Stemkens and colleagues, University Medical Center. The researchers concluded: "To our knowledge this is the first report on a heterokaryotypic monozygotic twin with a variant KS." Stemkens and colleagues published their study in American Journal of Medical Genetics Part A (Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins. American Journal of Medical Genetics Part A, 2007;143(16):1906-11). For additional information, contact D. Stemkens, University Medical Center, Dept. of Biomedical Genetics, Utrecht, Netherlands. Publisher contact information for the American Journal of Medical Genetics Part A is: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA. Keywords: Netherlands, Utrecht, Genetics, Syndrome. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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