49,XXXXY Syndrome
National Institutes of Health
Papers overview
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49,XXXXY is a rare X and Y chromosome variation that occurs in 1:85,000 to 1:100,000 live male births and is notable for variable…
Abstract Rationale: The karyotype 49,XXXXY is a rare form of Klinefelter syndrome usually presenting with ambiguous genitalia…
Summary We report the case of a 19-year-old boy, presenting several congenital malformations (facial dysmorphisms, cardiac and…
J Curr Pediatr 2015;13:63-7 Oz 49,XXXXY sendromu, 46,XY’ye ekstra uc X kromozomu eklenmesi ile karakterize nadir gorulen cinsiyet…
BACKGROUND AND OBJECTIVE: Chromosomal abnormalities are one of the causes of sexual ambiguity and in male genders the most common…
In this study clinical and psychological findings are presented in five 49,XXXXY patients. Their degree of mental retardation…
49,XXXXY syndrome is a rare sex chromosome aneuploidy and characterized by mental retardation, skeletal defects, craniofacial…
We read with interest the series of reports in the journal on the ATR-X syndrome.'" The facial features are similar to affected…
Recent progress in molecular genetics has facilitated the study of the parental origin of chromosome anomalies. In this report we…