دورية أكاديمية
Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins.
| العنوان: | Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins. |
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| المؤلفون: | Stemkens D; Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands., Broekmans FJ, Kastrop PM, Hochstenbach R, Smith BG, Giltay JC |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2007 Aug 15; Vol. 143A (16), pp. 1906-11. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Chromosomes, Human, X/*genetics , Diseases in Twins/*diagnosis , Diseases in Twins/*genetics , Klinefelter Syndrome/*diagnosis , Klinefelter Syndrome/*genetics , Twins, Monozygotic/*genetics, Adult ; Chromosomes, Human, Y/genetics ; Diseases in Twins/pathology ; Genetic Variation ; Humans ; Isochromosomes ; Karyotyping ; Klinefelter Syndrome/pathology ; Male ; Phenotype ; Sex Chromosome Aberrations |
| مستخلص: | 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. To our knowledge this is the first report on a heterokaryotypic monozygotic twin with a variant KS. ((c) 2007 Wiley-Liss, Inc.) |
| تواريخ الأحداث: | Date Created: 20070717 Date Completed: 20071109 Latest Revision: 20200930 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1002/ajmg.a.31856 |
| PMID: | 17632769 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4825 |
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| DOI: | 10.1002/ajmg.a.31856 |