HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.

Abstract
A child with ambiguous genitalia had an XX/XY karyotype in all tissues examined. Analyses of 11 informative polymorphisms, both chromosomal and genetic (Rh and HLA), showed no difference between the two cell lines. It is unlikely that the child originated from fertilisation of the egg and the second polar body by two sperms; therefore, we hypothesise that the child originated from an XXY zygote after mitotic errors during cleavage. Recent findings of differences in the chromosome constitution between the extra-embryonic tissues and the fetus support this view.
AuthorsO Zuffardi, L Gargantini, S Lambiase, F Lo Curto, P Maraschio, C E Ford
JournalJournal of medical genetics (J Med Genet) Vol. 24 Issue 3 Pg. 177-80 (Mar 1987) ISSN: 0022-2593 [Print] England
PMID3573003 (Publication Type: Case Reports, Journal Article)
Topics
  • Disorders of Sex Development (genetics)
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Mosaicism
  • Sex Chromosome Aberrations (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: