A sex chromatin survey of newborn children in two London hospitals.

Liveborn children delivered at Queen Charlotte's Hospital were studied between February 1962 and July 1963 and those born at Guy's from February 1962 onwards. A group of 9688 babies has been studied to date, comprising 4754 girls and 4934 boys. The sex chromatin findings (based on thionine or Feulgen stained oral smears) are presented in Table I, where they are also compared with published data (Moore, 1959; Bergemann, 1961; Wiesli, 1962; Maclean, Harnden, Court Brown, Bond, and Mantle, 1964; Marden, Smith, and McDonald, 1964). In view of the difficulty of following up some of these children, this report does not include clinical summaries or complete chromosome studies. Among the 4754 girls, 5 were chromatin negative; 3 still await follow-up; the remaining 2 were found to have XY sex chromosomes. One case presented with inguinal hernias which were found at operation and by subsequent histological studies to contain testes. This child is a presumptive case of testicular feminization. The other XY female was found to have lipoid adrenal hyperplasia-a very rare condition due to a recessive gene which may cause feminization of a male foetus (O'Doherty, 1964). Two girls had two sex chromatin masses in a proportion of cells and are presumptive XXX females. Among the 4934 boys, 11 had cells containing single sex chromatin masses. One boy had a proportion of cells with two masses. Of the 11 with single masses, 2 had Down's syndrome (mongolism), and the remaining 9 were clinically normal. One of these 9 was a twin: he and his co-twin, a girl, were born prematurely with birthweights of only 1330 g. and 1275 g., respectively; both were clinically normal and both died at 1 day of age due to immaturity.