PMID: 759058Jan 1, 1979Paper

A true hermaphrodite dispermic chimera with 46,XX and 46,XY karyotypes

Clinical Genetics
P H FitzgeraldR L Kirk

Abstract

A 16-year-old male with hypospadias and gynaecomastia had a rudimentary uterus with a right Fallopian tube and ovary; the left gonad was a functioning testis. Cytogenetic studies showed cells with 46,XX and 46,XY sex chromosomes in cultured blood, skin and gonadal tissues. Cells with the 46,XX constitution predominated in all tissues. Extensive investigations failed to demonstrate blood cell and serum chimerism, but there was little genetic variation of these characters between family members. Cytogenetic studies demonstrated that the father had contributed different marker chromosomes to the 46,XY and 46,XX cell lines of the propositus, whereas the mother had contributed the same two informative markers to both cell lines. The patient was a chimera with two diploid cell lines of different sex that had developed from the products of two separate acts of syngamy. Dispermy was demonstrated, and, whereas there was no evidence of different maternal contributions to the chimeric cell lines, uncertainty remains that these were identical.

References

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Dec 1, 1970·Journal of Medical Genetics·P H FitzgeraldH B Angus

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Citations

Nov 1, 1992·Clinical Genetics·R H NybergK O Simola
Jan 22, 2009·Annals of the New York Academy of Sciences·M RamsayT de Ravel
Jul 1, 1992·American Journal of Medical Genetics·H OhashiT Kajii
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Nov 1, 1982·Indian Journal of Pediatrics·V C ShahA V Shah
Nov 1, 1980·The British Journal of Dermatology·G H Findlay, P P Moores
Jan 1, 1983·Vox Sanguinis·P Tippett
Aug 31, 2010·American Journal of Medical Genetics. Part a·Johanna WinbergAnn Nordgren
Oct 10, 2006·Clinical Genetics·V MalanC Turleau
Mar 23, 2019·BMJ Case Reports·Viraraghavan Vadakkencherry RamaswamySanghamitra Gummadapu
Jan 1, 1983·Human Genetics·E SchoenleE R Froesch
Jan 1, 1990·American Journal of Medical Genetics·D B Flannery
Feb 15, 1994·American Journal of Medical Genetics·T SawaiN Niikawa
Jan 16, 1998·The New England Journal of Medicine·L StrainD T Bonthron

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