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Multiple congenital anomalies associated with a 47,XXX chromosome constitution
O J Hood1, E A Hartwell, K E Shattuck
1Department of Pediatrics, University of Texas Health Science Center, Houston 77030.
American Journal of Medical Genetics
|May 1, 1990
Abstract:
An infant with a 47,XXX chromosome constitution, who died shortly after birth, had laryngeal atresia, pulmonary hypoplasia, craniofacial anomalies, urogenital malformations including unilateral renal agenesis, hydrometrocolpos and ovarian dysgenesis, and mildly abnormal endochondral ossification. Implications for genetic counseling are presented.