| Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature. | |
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MedLine Citation:
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PMID: 10073907 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The prenatal diagnosis of a 1p36 deletion is reported. The pregnancy was ascertained at 24 weeks of gestation because of the discovery of multiple malformations at ultrasound including hypotelorism, moderate cerebral ventricular dilatation and Ebstein anomaly with secondary cardiac failure. Following cytogenetic studies and counselling, the pregnancy was terminated and a fetal autopsy performed. The phenotype of this antenatally-diagnosed case is compared with the clinical features of 44 previously reported cases with an identical deletion of the short arm of chromosome 1p36. |
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Authors:
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L Faivre; N Morichon-Delvallez; G Viot; J Martinovic; M P Pinson; J P Aubry; V Raclin; P Edery; Y Dumez; A Munnich; M Vekemans |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Prenatal diagnosis Volume: 19 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 1999 Jan |
Date Detail:
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Created Date: 1999-04-29 Completed Date: 1999-04-29 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 49-53 Citation Subset: IM |
Affiliation:
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Département de Génétique, Hôpital Necker Enfants Malades, Paris, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Chromosomes, Human, Pair 1* Facial Bones / abnormalities Female Gene Deletion* Humans Hydrops Fetalis / genetics In Situ Hybridization, Fluorescence Karyotyping Male Pregnancy Prenatal Diagnosis* Ultrasonography, Prenatal |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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