48,XXYY syndrome is a sex chromosome aneuploidy (SCA) condition that occurs in approximately 1:18 000 to 1:40 000 males. Developmental delays and behavioral problems are the most common reason for genetic testing. The physical phenotype of 48,XXYY is similar to 47,XXY Klinefelter syndrome (tal...
XXYY syndrome (referred to as XXYY) is a form of sex chromosome aneuploidy (SCA) originally described as the “double male,” due to the addition of an X and Y chromosome to the already complete 46, XY karyotype. The first description of XXYY appeared in a 1960 letter to the editor of...
The addition of more than one extra X and/or Y chromosome to a normal male karyotype is less frequent and has its own distinctive physical and behavioral profile. This study examines the behavioral similarities and differences in individuals with 48,XXYY compared to 48,XXXY and 49,XXXXY. The...
2009. Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev. Disabil. Res. Rev. 15 (4): 328-332 CrossRef , Medline .Visootsak, J. & Graham, J.M. (2009) Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev ...
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Estimates of sperm sex chromosome disomy and diploidy rates in a 47,XXY/46,XY mosaic Klinefelter patient A 47,XXY/46,XY male was investigated for the incidence of aneuploidy in sperm sex chromosomes using a three-colour X/Y/18 fluorescence in situ hybridisatio... AST Lim,F Yang,SL Yu ...
Parental decisions following prenatal diagnosis of sex chromosome aneuploidy: a trend over time Research over the last 20 years has considerably changed the understanding of the natural history and prognosis for individuals with a diagnosis of sex chr... SM Christian,D, Koehn,R, Pillay,... 被引...
raresexchromosomeaneuploidiesinhumansreportofsixpatients 系统标签: xxxxyaneuploidiespatientskaryotypeschromosomesex LettertotheEditorRareSexChromosomeAneuploidiesinHumans:ReportofSixPatientsWith48,XXYY,49,XXXXY,and48,XXXXKaryotypesTotheEditor:Recentlythebirthprevalenceofsexchromosomean-euploidieswasestimatedatabout1/400...
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18 0001:100 000 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 wit...
We report a case of double male syndrome, a type of Klinefelter's syndrome with 48,XXYY chromosome, associated with acromegaloidism. Although the patient presented acromegalic appearance, he did not show hypersecretion of growth hormone (GH). GH provocation tests revealed a rather low GH response...