| Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale. | |
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MedLine Citation:
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PMID: 6462930 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A two-year-old child who had had palliative surgery as a neonate for an absent right atrioventricular connection and double-inlet ventricle was shown to be developmentally retarded. Trisomy for the short arm of chromosome 8 was demonstrated, resulting from a familial 8:13 translocation, with a high risk of recurrence. Although the specific features of this case are unique, it illustrates the importance of chromosome analysis in any dysmorphic infant whose heart defect places prolonged survival in doubt. |
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Authors:
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J Burn; M Baraitser; D T Hughes; P Saldana-Garcia; J F Taylor |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric cardiology Volume: 5 ISSN: 0172-0643 ISO Abbreviation: Pediatr Cardiol Publication Date: 1984 Jan-Mar |
Date Detail:
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Created Date: 1984-08-29 Completed Date: 1984-08-29 Revised Date: 2008-02-20 |
Medline Journal Info:
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Nlm Unique ID: 8003849 Medline TA: Pediatr Cardiol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 55-9 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Chromosomes, Human, 13-15* Chromosomes, Human, 6-12 and X* Female Heart Atria / abnormalities Heart Catheterization Heart Defects, Congenital / genetics* Heart Ventricles / abnormalities Humans Infant, Newborn Noonan Syndrome / pathology Translocation, Genetic* Trisomy |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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