Clinical, cytogenetic and molecular analysis of three 46,XX males.
Cytogenetic analysis, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) were applied to characterize the Y-chromosomal breakpoints of three XX male patients. Two of these patients show a breakpoint within a protein kinase gene, PRKY, previously described as a hotspot of ectopic recombination between homologous regions on X and Y chromosomes during male meiosis. The slightly different clinical phenotypes of the three patients cannot be correlated with the localization of the breakpoints.
Plöchl
E
E
Clinical Genetics, Children's Hospital, Salzburg, Austria.
Vlasak
I
I
Rittinger
O
O
Bergendi
E
E
Stopar
M
M
Kurnik
P
P
Nachtigall
M
M
Zierler
H
H
Rappold
G A
GA
Schiebel
K
K
D000328:Adult; D002648:Child; D006063:Chorionic Gonadotropin; D003582:Cytogenetics; D004247:DNA / Q000235:genetics; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics* / Q000648:ultrastructure
D006063:Chorionic Gonadotropin; D012739:Gonadal Steroid Hormones; D004247:DNA