Multiple congenital anomalies associated with a 47,XXX chromosome constitution
- 1 May 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 36 (1) , 73-75
- https://doi.org/10.1002/ajmg.1320360114
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.Keywords
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