Abstract:
:Translocations involving the X and Y chromosomes are often associated with anomalies of gonadal development. Transfer of Yp sequences, including the testis-determining SRY gene, to the terminal portion of the short arm of the X chromosome is associated with 46,XX maleness and in rare cases 46,XX true hermaphroditism. Three classes of XX males have been defined on the basis of the extent of Y material transferred to the X chromosome. In one class, the transfer of material involves aberrant recombination between two highly homologous genes, PKRX and PKRY, and there is evidence to suggest that this interchange is influenced by the Y chromosome background. Other types of X-Y translocations associated with anomalies of sex differentiation include Xp-Yq translocations, which result in a functional disomy of Xp sequences including the DSS locus and are associated with 46,XY complete or partial gonadal dysgenesis. In rare cases Yp-Xq translocations have been described in association with 46,XX maleness.
journal_name
Semin Reprod Medjournal_title
Seminars in reproductive medicineauthors
McElreavey K,Cortes LSdoi
10.1055/s-2001-15393keywords:
subject
Has Abstractpub_date
2001-06-01 00:00:00pages
133-9issue
2eissn
1526-8004issn
1526-4564journal_volume
19pub_type
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journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
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更新日期:2000-01-01 00:00:00
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