Abstract
The importance of screening newborn infant populations for abnormalities of sex chromosomes has been demonstrated. We report an improved method of identifying Y chromosome abnormalities using the affinity of this chromosome for the fluorescent dye Quinacrine Hydrochloride. Cells obtained from Wharton Jelly of the umbilical cord were used. Also, these cells exhibit fluorescence of the Barr body in female cells, a hitherto undescribed phenomenon. This body differs significantly from the fluorescent Y body in its size, form and intensity of staining. Touch preparations of a freshly cut section of the cord were prepared and were stained with Quinacrine Hydrochloride. Blind sex determination was carried out on slides prepared from the cords of 249 infants. All of the 120 females were correctly diagnosed by the fluorescence of the Barr body. One hundred male specimens were correctly indentified by the presence of a fluorescent Y body and absence of a fluorescent Barr body.
Three hundred fifty males have been screened for abnormalities in the number of Y chromosomes and thus far none have been found. A sequential staining technique using Quinacrine Hydrochloride and Carbol Fuchsin on the same specimen verified the identity of the fluorescent Barr body with the conventional Barr body. In addition to the obvious power of this technique in screening newborns for sex chromosomal abnormalities we believe it may be of great use in the rapid diagnosis of sex in utero.
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Greensher, A., Gersh, R., Peakman, D. et al. Screening of newborns for sex chromosomal abnormalities by a fluorescent technique. Pediatr Res 5, 423 (1971). https://doi.org/10.1203/00006450-197108000-00218
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DOI: https://doi.org/10.1203/00006450-197108000-00218
