48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome
نویسندگان
چکیده
منابع مشابه
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
UNLABELLED Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological feat...
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Background: Dermatoglyphics are the dermal ridge configurations on the digits, palms and soles. Dermatoglyphic polymorphism results from the co-operation of genetic and environmental factors. The Dermatoglyphic analysis is a valuable completion of initial diagnosis of some syndromes genetically determined. Our objective was to assess dermatoglyphics study results against standard chromosomal an...
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Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. The typical symptoms are a tall stature, narrow shoulders, broad hips, sparse body hair, gynecomastia, small testes, absent spermatogenesis, normal to moderately reduced Leydig cell function, increased secretion of follicle-stimulating hormone, ...
متن کاملdermatoglyphic assessment in down and klinefelter syndromes
background: dermatoglyphics are the dermal ridge configurations on the digits, palms and soles. dermatoglyphic polymorphism results from the co-operation of genetic and environmental factors. the dermatoglyphic analysis is a valuable completion of initial diagnosis of some syndromes genetically determined. our objective was to assess dermatoglyphics study results against standard chromosomal an...
متن کاملKlinefelter syndrome
Some males with Klinefelter syndrome have the extra X chromosome only in some of their cells (mosaic Klinefelter syndrome). In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in ph...
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ژورنال
عنوان ژورنال: Acta Paediatrica
سال: 2011
ISSN: 0803-5253
DOI: 10.1111/j.1651-2227.2011.02235.x