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...
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 with ...
The “double male”: a new chromosome constitution in Klinefelter's syndrome Lancet, 276 (7148) (1960), pp. 492-493, 10.1016/S0140-6736(60)91624-X View PDFView articleView in ScopusGoogle Scholar Nielsen, and Wohlert 1990 Nielsen J., Wohlert M. Sex chromosome abnormalities found among 34...
Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY 来自 学术范 喜欢 0 阅读量: 771 作者:J Visootsak,JMG Jr 摘要: Klinefelter syndrome (47,XXY) was initially described in the context of its endocrinologic and physical features; however, subsequent studies have ...
基金 上海市浦东新区科技发展基金(PKJ2013-Y63) 关键词 性染色体数目异常 行为问题 社会认知水平 XYY综合征 XXYY综合征 sex chromosome aneuploidy behavior problem social cognitive level XYY syndrome XXYY syndrome 分类号 R725.9 [医药卫生—儿科] 相关...
49,XXXXY syndrome with diabetes mellitus. 49,XXXXY syndrome is a rare sex chromosome aneuploidy and characterized by mental retardation, skeletal defects, craniofacial anomalies and hypogonadism. T... HJ Kim,D Kim,JM Shin,... - 《Hormone Research》 被引量: 20发表: 2006年 An ultra...
48, XXYY syndrome is a form of sex chromosome aneuploidy that affects between 1 in 18 000 to 1 in 40 000 males. It is not inherited and is diagnosed by karyotyping. It has similarities to 47, XXY Klinefelter's syndrome, with tall stature, micro-orchidism, hypergonadotropic hypogonadism...
Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY Klinefelter syndrome (47,XXY) was initially described in the context of its endocrinologic and physical features; however, subsequent studies have revealed... J Visootsak,JMG Jr - 《Developmental Disabilities Research...
Quantitative-fluorescence polymerase chain reaction (QF-PCR) with small tandem repeat (STR) markers rapidly detected the sex chromosome polysomy from amniotic fluid cells. This abnormality appeared to arise from successive non-disjunction during paternal meiosis I and meiosis II. Cytogenetic analysis ...
Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia Among sex chromosome aneuploidies, 48, XXYY syndrome is a rare variant. This condition is marked by the existence of an additional X and Y chromosom...