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Multiple congenital anomalies associated with a 47,XXX chromosome constitution.

作者信息

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

机构信息

Department of Pediatrics, University of Texas Health Science Center, Houston 77030.

出版信息

Am J Med Genet. 1990 May;36(1):73-5. doi: 10.1002/ajmg.1320360114.

DOI:10.1002/ajmg.1320360114
PMID:2333909
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.

摘要

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Structural and numerical changes of chromosome X in patients with esophageal atresia.食管闭锁患者X染色体的结构和数量变化。
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Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.
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