PMID: 837567Feb 1, 1977Paper

Two XX males in one family and additional observations bearing on the etiology of XX males

Clinical Genetics
A D ChapelleG Tallqvist

Abstract

Two XX males who were second cousins are reported. A genetic mechanism producing maleness is suggested. The putative factor had been transmitted solely through males, which excludes the possibility of a heritable X-Y interchange. Recent reports on fluorescent Y chromatin in Sertoli cells of XX males prompted investigations into the fluorescence patterns of testicular cells. Sertoli cells from three XX males displayed brightly fluorescent spots, but it was concluded that they did not represent Y chromosomes. Evidence for this conclusion was obtained from the study of testicular fluorescence in XX, XXY and XY males. No visually detectalbe cytogenetic evidence for an increase in length or altered banding pattern of one of the X chromosomes was found in three XX males. We conclude that an autosomal gene is the most likely explanation of the male differentiation in the two XX males presented here.

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Citations

May 16, 1985·Nature·D C PageJ Weissenbach
Jul 1, 1985·The Journal of Urology·R W RaspaT W Hensle
Apr 1, 1981·Clinical Genetics·H SeidelS Stengel-Rutkowski
Aug 12, 2014·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Manuel NistalMiguel Reyes-Múgica
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Jan 1, 1987·Annals of the New York Academy of Sciences·B M Cattanach
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Jan 1, 1980·Human Genetics·E M Bühler
Feb 6, 2008·Clinical Oral Investigations·Ivana ScepanMarko Babic
Dec 26, 2001·Archives of Medical Research·J C Zenteno-RuizJ P Méndez

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