Multiple congenital anomalies associated with a 47,XXX chromosome constitution

O. J. Hood; E. A. Hartwell; K. E. Shattuck; H. S. Rosenberg

doi:10.1002/ajmg.1320360114

Multiple congenital anomalies associated with a 47,XXX chromosome constitution

O. J. Hood, E. A. Hartwell, K. E. Shattuck, H. S. Rosenberg

Pediatrics

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

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 endochondrial ossification. Implications for genetic counseling are presented.

Original language	English (US)
Pages (from-to)	73-75
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	36
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320360114
State	Published - 1990

Keywords

laryngeal atresia
ovarian dysgenesis
pulmonary hypoplasia
triplo-X

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320360114

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title = "Multiple congenital anomalies associated with a 47,XXX chromosome constitution",

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 endochondrial ossification. Implications for genetic counseling are presented.",

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author = "Hood, {O. J.} and Hartwell, {E. A.} and Shattuck, {K. E.} and Rosenberg, {H. S.}",

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AU - Hartwell, E. A.

AU - Shattuck, K. E.

AU - Rosenberg, H. S.

PY - 1990

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AB - 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 endochondrial ossification. Implications for genetic counseling are presented.

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KW - ovarian dysgenesis

KW - pulmonary hypoplasia

KW - triplo-X

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Multiple congenital anomalies associated with a 47,XXX chromosome constitution

Abstract

Keywords

ASJC Scopus subject areas

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