| Molecular cytogenetic analysis of a de novo 5q31q33 deletion associated multiple congenital anomalies: case report. | |
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MedLine Citation:
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PMID: 9934978 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Interstitial deletions are relatively rare chromosomal anomalies that usually arise de novo. The data describing the phenotype associated with interstitial deletions of 5q are very limited. We describe the first case of multiple fetal anomalies, diagnosed on prenatal sonographic examination, associated with a deletion at 5q31q33. Sonographic examination at 23 weeks' gestation demonstrated growth parameters consistent with 20 weeks' gestation; a 7-mm nuchal fold; a dilated loop of bowel adjacent to the stomach suggestive of duodenal atresia; clubbing of the left foot; a narrow aorta; suspected ventricular septal defect; and placental thickening. The patient delivered a severely growth-restricted fetus and enlarged placenta at 30 weeks' gestation. The infant died neonatally. |
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Authors:
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R L Kramer; B Feldman; S A Ebrahim; S B Kasperski; M P Johnson; M I Evans |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 82 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1999 Jan |
Date Detail:
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Created Date: 1999-03-29 Completed Date: 1999-03-29 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 143-5 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chromosome Deletion* Chromosomes, Human, Pair 5* Congenital Abnormalities / genetics*, ultrasonography Female Humans Karyotyping Pregnancy Ultrasonography, Prenatal |
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