| Prenatal diagnosis of a de novo trisomy 6q22.2-->6qter and monosomy 1pter-->1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q. | |
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MedLine Citation:
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PMID: 9111999 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a de novo trisom 6q22.2-->6qter and monosomy 1pter-->1p36.3 identified in amniocytes by GTG banding and FISH. While ultrasonography demonstrated malformations that did not suggest a specific chromosomal syndrome, a male infant with features consistent with trisomy 6q was born. He was followed up until 23 months, when he died after cardiac surgery. The only two other prenatal cases of trisomy 6q were compared with our patient. A literature review showed that trisomy 6q has not been reported in association with the anomalies seen by ultrasound in this case. |
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Authors:
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A S Kulharya; M E Carlin; R W Stettler; M Huslig; M K Kukolich; J Garcia-Heras; W A Stettler |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Clinical genetics Volume: 51 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1997 Feb |
Date Detail:
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Created Date: 1997-06-19 Completed Date: 1997-06-19 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
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Languages: eng Pagination: 115-7 Citation Subset: IM |
Affiliation:
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Division of Medical Genetics, Medical College of Georgia, Augusta 30912-3720, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
ultrasonography Amniocentesis Chromosomes, Human, Pair 1* Chromosomes, Human, Pair 6* Female Follow-Up Studies Heart Defects, Congenital / genetics, surgery Humans Hypertelorism Infant Infant, Newborn Joints / pathology Male Monosomy* Pregnancy Prenatal Diagnosis* Testis / abnormalities Trisomy* |
| Comments/Corrections | |
Erratum In:
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Clin Genet 1997 Oct;52(4):251 Note: Stettler WA [corrected to Stettler RW] |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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