| Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature. | |
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MedLine Citation:
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PMID: 20160426 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases. |
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Authors:
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Soyhan Ba?ci; Andreas M?ller; Axel Franz; Andreas Heydweiller; Christoph Berg; Markus M N?then; Peter Bartmann; Heiko Reutter |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2010-02-16 |
Journal Detail:
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Title: Fetal diagnosis and therapy Volume: 27 ISSN: 1421-9964 ISO Abbreviation: Fetal. Diagn. Ther. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-03-24 Completed Date: 2010-06-10 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9107463 Medline TA: Fetal Diagn Ther Country: Switzerland |
Other Details:
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Languages: eng Pagination: 113-7 Citation Subset: IM |
Copyright Information:
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2010 S. Karger AG, Basel. |
Affiliation:
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Department of Neonatology, Children's Hospital, University of Bonn, Germany. soyhan.bagci@ukb.uni-bonn.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amniocentesis Aneuploidy Chromosomes, Human, X / genetics* Encephalocele / diagnosis, genetics*, surgery Female Gestational Age Heart Defects, Congenital / diagnosis, genetics* Humans Infant, Newborn Infant, Premature Infant, Premature, Diseases / surgery Intestinal Atresia / diagnosis, genetics*, surgery Karyotyping Pregnancy Sex Chromosome Aberrations / embryology* Ultrasonography, Prenatal |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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