Document Detail


Trisomy 18 in monozygotic twins with discordant phenotypes.
MedLine Citation:
PMID:  15175830     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The incidence of trisomy 18 in monozygotic twins is approximately 1 per million. We report a pair of liveborn monozygotic twins with trisomy 18. Both twins had esophageal atresia with tracheoesophageal fistula (type C) and intrauterine growth retardation. Twin A had cleft lip, choanal atresia and perimembranous ventricular septal defect. Twin B had hypoplastic left heart syndrome. The twins died without aggressive intervention at the age of 2 months and 52 hours, respectively. These 2 babies had significantly discordant phenotypes, which suggests an epigenetic or environmental effect. Bioethical considerations remain important in the care of babies with multiple congenital anomalies.
Authors:
Jiahn-Te Lee; Hung-Chieh Chou; Po-Nien Tsao; Wu-Shiun Hsieh; Wuh-Liang Hwu
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the Formosan Medical Association = Taiwan yi zhi     Volume:  103     ISSN:  0929-6646     ISO Abbreviation:  J. Formos. Med. Assoc.     Publication Date:  2004 Apr 
Date Detail:
Created Date:  2004-06-03     Completed Date:  2004-08-05     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9214933     Medline TA:  J Formos Med Assoc     Country:  China (Republic: 1949- )    
Other Details:
Languages:  eng     Pagination:  314-6     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics
Chromosomes, Human, Pair 18*
Diseases in Twins / genetics*
Female
Humans
Infant, Newborn
Phenotype
Trisomy / genetics*
Twins, Monozygotic*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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