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a Institute of Human
Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan,
Poland, b The Children's Memorial Health
Institute, 04-736 Warszawa-Miedzylesie, Aleja Dzieci Polskich 20, Poland, c Institute of Medical Genetics, University School
of Medicine, Szpitalna 27/33, 60-572 Poznan, Poland, d Institute
of Obstetrics and Gynaecology, Clinics of Endocrinology, Polna 33, 60-535 Poznan, Poland
Correspondence to: Dr Jaruzelska.
Received 13 January
1998;
Revised version accepted for publication 27 January 1999
46,XX subjects carrying the testis determining SRY gene usually
have a completely male phenotype. In this study, five very rare cases
of SRY carrying subjects (two XX males and three XX true
hermaphrodites) with various degrees of incomplete masculinisation were
analysed in order to elucidate the cause of sexual ambiguity despite
the presence of the SRY gene. PCR amplification of 20 Y chromosome
specific sequences showed the Yp fragment to be much longer in XX males
than in true hermaphrodites. FISH analysis combined with RBG banding of
metaphase chromosomes of four patients showed that in all three
true hermaphrodites and in one XX male the Yp fragment was translocated
onto a late replicating inactive X chromosome in over 90% of their
blood lymphocytes. However, in a control classical XX male with no
ambiguous features, the Yp fragment (significantly shorter than in the
XX male with sexual ambiguity and only slightly longer than in XX
hermaphrodites) was translocated onto the active X chromosome in over
90% of cells.
These studies strongly indicate that inactivation on the X
chromosome spreading into a translocated Yp fragment could be the major
mechanism causing a sexually ambiguous phenotype in XX (SRY+) subjects.
This article has been cited by other articles:
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  E. Vorona, M. Zitzmann, J. Gromoll, A. N. Schuring, and E. Nieschlag Clinical, Endocrinological, and Epigenetic Features of the 46,XX Male Syndrome, Compared with 47,XXY Klinefelter Patients J. Clin. Endocrinol. Metab., September 1, 2007; 92(9): 3458 - 3465. [Abstract] [Full Text] [PDF]
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 A Sharp, K Kusz, J Jaruzelska, W Tapper, M Szarras-Czapnik, J Wolski, and P Jacobs Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects J. Med. Genet., May 1, 2005; 42(5): 420 - 427. [Full Text] [PDF]
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A Sharp, K Kusz, J Jaruzelska, M Szarras-Czapnik, J Wolski, and P Jacobs Familial X/Y translocations associated with variable sexual phenotype J. Med. Genet., June 1, 2004; 41(6): 440 - 444. [Full Text] [PDF]
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 J. Slowikowska-Hilczer, T. E. Romer, and K. Kula Neoplastic Potential of Germ Cells in Relation to Disturbances of Gonadal Organogenesis and Changes in Karyotype J Androl, March 1, 2003; 24(2): 270 - 278. [Abstract] [Full Text] [PDF]
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