| Monozygotic twins discordant for trisomy 13. | |
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MedLine Citation:
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PMID: 22460600 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Monozygotic twins with discordant karyotypes are rare. We report a case of monozygotic twins discordant for trisomy 13 by amniocyte karyotypes. Ultrasound revealed multiple congenital anomalies in Twin A (47,XY,+13), none in Twin B (46,XY), and monochorionic-diamniotic placentation. Zygosity testing performed both prenatally and after birth supported monozygosity. Twin A died in the neontal period. Twin B survived and had normal physical examination, but peripheral blood karyotype revealed 20% mosaicism for trisomy 13. Monochorionic-diamniontic placentation with vascular anastomoses was confirmed by pathological examination. In this paper, we discuss the various mechanisms by which monozygotic twins may have discordant karyotypes. The surviving twin, structurally and developmentally normal at 6 months of age, will be monitored for potential complications of uniparental disomy of chromosome 13 and trisomy 13 mosaicism. |
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Authors:
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K Wong Ramsey; T P Slavin; G Graham; G I Hirata; V Balaraman; L H Seaver |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of perinatology : official journal of the California Perinatal Association Volume: 32 ISSN: 1476-5543 ISO Abbreviation: J Perinatol Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-03-30 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8501884 Medline TA: J Perinatol Country: United States |
Other Details:
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Languages: eng Pagination: 306-8 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of Hawaii John A. Burns School of Medicine, Honolulu, HI, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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