Due to the high prevalence and variable phenotype of patients with Klinefelter syndrome, there is a need for a robust and rapid screening method allowing early diagnosis. Here, we report on the development and detailed clinical validation of a quantitative real-time PCR (qPCR)-based method of the copy number assessment of the androgen receptor (AR) gene, located to Xq11.2-q12. We analysed sampl...

Five phenotypic females in one family had the genotype 46,XY and all had gonadal germ cell tumours. Studies of the family pedigree suggest that this form of XY gonadal dysgenesis is inherited in an X linked recessive manner. G banding of elongated metaphase chromosomes from two subjects with XY gonadal dysgenesis and a female carrier showed no aberrations of the X chromosome. The titres of H-Y ...

Eleven Y-specific DNA probes hybridizing with DNA from one or more 46,XX males were isolated from a recombinant phage DNA library constructed from flow sorted human Y chromosomes. Two probes hybridized with DNA from nine out of eleven, i.e. greater than 80% of these 46,XX males. The relative frequency of hybridization of the probes in the 46,XX males and in a 46,X,dic(Y) female, together with i...

CONTEXT The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Males with 45,X/46,XY frequently show stigmata typically associated with TS. We hypothesised that males with 45,X/46,XY have similar cardiovascular pathology as females with 45,X/46,XY. OBJECTIVE To investigate cardiovascular abnormalities in 45,X/46,XY mal...

OBJECTIVE To study the frequency of the chromosomal abnormality (CA), referred for karyotyping, and counseling in individuals with primary amenorrhea (PA) and secondary amenorrhea (SA). METHODS We report on a retrospective survey of 865 women with amenorrhea (620-PA and 245-SA) at the Division of Human Genetics, Department of Anatomy, St. John's Medical College, Bangalore, India from 1973 to ...

Sex reversal in males with female karyotypes is likely to be caused by the presence of cytogenetically undetectable Y-chromosomal DNA sequences that include the testis-determining gene(s). Studying a total of sixteen 46,XX males and one 47,XXX male, we detected Y-chromosomal DNA in 13 of the XX males (i.e. 80%) and in the 47,XXX male. The amount of Y-chromosomal DNA present in the patients vari...

a total number of 66 chorionic villus samples were cytogenetically investigated. the samples consisted of 30 experimental cvs from spontaneously aborted materialand 36 from live gestations.80% of the samples were successfully grown, of the 30 cases 40% (12) and 33% (10)contained a normal female and a normal male karyotype, respectively, 3.3% (1) and3.3% (1) had abnormal karyotypes (47,xx, + 21;...

Introduction Complete gonadal dysgenesis with 46 XY karyotype, also known as Swyer-James syndrome, is characterized by complete sex reversal with a female phenotype and unambiguous female external genitalia. Sex-determining region Y (SRY) gene mutations causing loss-of-function of the gene were identified in 10-15% of affected individuals. These individuals also have a high risk of developing t...