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Mosaic Turner Syndrome in a Newborn

J. C. Lee, MD; Jean Perrin, MD; David Blomberg, MD
JAMA. 1973;226(9):1122. doi:10.1001/jama.1973.03230090046021.
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To the Editor.—  A few cases of newborn infants with phenotypic features originally described by Turner and supposed 45,X-chromosome complement have been found to have ovaries with germ cells or primordial follicles. It has been suggested that these cases actually represent unrecognized 45, X/46, XX mosaicism.1-4 This letter describes a newborn female patient with some Turner phenotypic features. The possibility of a 45, X/46, XX mosaicism is suggested by the presence of a Barr body in some tissues and 45, X-chromosome complement in two other tissues.

Report of a Case.—  A female infant, weighing 2,500 grams, was born at the 38th week of gestation to a 24-year-old para 2 white mother. The initial Apgar score was 7. Within the first 3 to 4 hours of life, respiratory distress and cyanosis developed. A few hours later, a grade 2/5 midsystolic ejection murmur was heard at the left sternal border. The temperature


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