PMID: 5841May 1, 1976Paper

Down's syndrome with X0/XY mosaicism

Acta paediatrica Scandinavica
C Y Yeung, L Yang


A 5-month-old Chinese infant with combined Down's syndrome and X0/XY mosaicism is presented. The phenotypical features of mongolism are classical and unmodified. The somatic effects of X0/XY mosaicism is that of incomplete masculinization with short phallus, hypospadias, bifid scrotum, urogenital sinus, and bilateral extra-abdominal infantile testicles. These features together with the absence of internal female organs and signs of Turner's syndrome in this patient are different from the previous reported cases of mixed gonadal dysgenesis.


May 1, 1971·American Journal of Diseases of Children·M S al-AishC C Plato
Jun 1, 1971·Journal of Medical Genetics·R LaxovaJ A Timothy
Jun 1, 1973·Clinical Genetics·B F Crandall, A J Ebbin
Aug 1, 1966·The Journal of Pediatrics·I A UchidaB P Ducan
Nov 3, 1960·The New England Journal of Medicine·J T LANMANK HIRSCHHORN
Jul 20, 1963·Lancet·R W DAYM QUIGLEY
May 1, 1960·Annals of Human Genetics·D G HARNDENL S PENROSE

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Oct 1, 1994·Journal of Medical Genetics·G J Van BuggenhoutD F Smeets
Mar 3, 1998·American Journal of Medical Genetics·N HaradaN Niikawa

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