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Y/21 Translocation With Gonadal and Renal Dysgenesis and Cardiac Rupture

Laura S. Hillman, MD; Gurbax S. Sekhon, PhD; Robert L. Kaufman, MD; Chen-Kung Ho, MD
Am J Dis Child. 1974;128(4):560-563. doi:10.1001/archpedi.1974.02110290130023.
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An infant with clinical features of Potter and Turner syndromes at birth was found to have a translocation of a portion of the long arm of a Y chromosome to a 21 chromosome, and only one X chromosome. The infant had bilateral dysplastic kidneys and hypoplastic lungs and suffered spontaneous rupture of the heart and pneumothoraces. Except for gonads with persistent sex cords and a solitary degenerating follicle, the genital organs were female. The sexual differentiation is compatible with the theory that the short arm of the Y chromosome is mainly responsible for male differentiation but implies that the long arm is not without effect on gonadal development. The occurrence of severe renal abnormalities in an infant with a sex chromosome abnormality may be more than coincidental.

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