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DNA analyses of XX and XX-hypospadiac males

โœ Scribed by Hironao Numabe; Shigeo Nagafuchi; Yutaka Nakahori; Takashi Tamura; Hiromichi Kiuchi; Mikio Namiki; Naoya Kohda; Yoshimitsu Fukushima; Hideki Fuse; Motoyasu Kusano; Takayuki Arai; Yutaka Matsuzaki; Keiko Fukutani; Koichiro Isurugi; Yoshikazu Kuroki; Tatsuro Ikeuchi; Masahiko Yoshida; Shigeru Minowada; Yasuo Nakagome


Book ID
104669428
Publisher
Springer
Year
1992
Tongue
English
Weight
523 KB
Volume
90
Category
Article
ISSN
0340-6717

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โœฆ Synopsis


Fourteen 46,XX "males" were analyzed by Southern blot hybridization with seventeen different Y chromosome-derived DNA probes and by the polymerase chain reaction for an additional two sites on the short arm of Y. Eight 46,XX males possessed various segments of the short arm of the Y chromosome, including the sex determining region. The detected segments ranged from the two most distal loci to nearly the entire length of the short arm, viz., 10 out of 11 loci. None of the eight patients had hypospadia. Five out of the six remaining cases had hypospadia and no Y sequence was detected, suggesting the presence of a causative difference between hypospadiac and non-hypospadiac groups.


๐Ÿ“œ SIMILAR VOLUMES


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We report a 10-year-old male patients with the predominant karyotype 46,XX. In only one cell of the testis culture a metaphase with 47,XX+G was found. The theories of etiology of XX-males and the reported cases of XX/XXY-mosaics in the literature were discussed.

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