| Inherited partial trisomy 8q (22 leads to qter). | |
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MedLine Citation:
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PMID: 645677 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report clinical observations and cytogenetic studies of an inherited form of partial trisomy 8q. Although complete trisomy 8 has in recent years proven to be a clinically recognizable syndrome, partial trisomy 8q has been documented in only six individuals. Of these, five were familial and also partially trisomic for chromosome 22. There has been only one prior report of partial trisomy 8q without partial trisomy 22. Review of these cases provides support for the recent suggestion that the phenotype of trisomy 8 may be caused principally by trisomy of the distal segment of 8q. |
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Authors:
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P L Townes; M R White |
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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 diseases of children (1960) Volume: 132 ISSN: 0002-922X ISO Abbreviation: Am. J. Dis. Child. Publication Date: 1978 May |
Date Detail:
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Created Date: 1978-06-28 Completed Date: 1978-06-28 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0370471 Medline TA: Am J Dis Child Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 498-501 Citation Subset: AIM; IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Abortion, Induced Adult Chromosomes, Human, 6-12 and X* Female Heart Septal Defects, Ventricular / genetics Humans Infant, Newborn Karyotyping Male Mandibulofacial Dysostosis / genetics* Phenotype Pregnancy Trisomy* |
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