Multiple congenital anomalies associated with a 47,XXX chromosome constitution

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. Im...

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Bibliographic Details
Published in:	American journal of medical genetics Vol. 36; no. 1; p. 73
Main Authors:	Hood, O J, Hartwell, E A, Shattuck, K E, Rosenberg, H S
Format:	Journal Article
Language:	English
Published:	United States 01-05-1990
Subjects:	Abnormalities, Multiple - genetics Facial Bones - abnormalities Female Humans Infant, Newborn Larynx - abnormalities Lung - abnormalities Sex Chromosome Aberrations - pathology Skull - abnormalities Trisomy Urogenital Abnormalities X Chromosome
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Summary:	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.
ISSN:	0148-7299
DOI:	10.1002/ajmg.1320360114