Document Detail


Prenatal diagnosis of mosaic tetrasomy 18p.
MedLine Citation:
PMID:  23276569     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from isochromosome 18p, by interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes. CASE REPORT: A 41-year-old woman underwent amniocentesis at 18 weeks of gestation, because of advanced maternal age. Amniocentesis revealed a de novo supernumerary isochromosome 18p in two of 14 colonies of cultured amniocytes. Repeated amniocentesis was performed at 22 weeks of gestation. Interphase FISH analysis on uncultured amniocytes showed four 18p11.32-specific probe (RP11-324G2) signals in 5.7% (3/53 cells) of uncultured amniocytes. A multiplex ligation-dependent probe amplification P095 test kit and array comparative genomic hybridization analysis did not detect genomic imbalance in chromosome 18. Cytogenetic analysis of cultured amniocytes at repeated amniocentesis revealed a karyotype of 47,XY,+i(18)(p10)[3]/46,XY[23]. The pregnancy was carried to 38 weeks of gestation, and a healthy 3120 g male baby was delivered. When examined at 2 months of age, the infant was normal in growth and development, without phenotypic abnormalities. The cord blood had a karyotype of 46,XY. Polymorphic DNA marker analysis excluded uniparental disomy 18. Interphase FISH analysis on uncultured urinary cells showed 9.4% (3/32 cells) mosaicism for tetrasomy 18p. CONCLUSION: There is cytogenetic discrepancy between amniocytes and cord blood lymphocytes in prenatally detected mosaic tetrasomy 18p. Interphase FISH on uncultured amniocytes has the advantage of rapid confirmation of low-level mosaicism for tetrasomy 18p at amniocentesis.
Authors:
Chih-Ping Chen; Tsang-Ming Ko; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Yu-Ting Chen; Dai-Dyi Town; Wayseen Wang
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Publication Detail:
Type:  JOURNAL ARTICLE    
Journal Detail:
Title:  Taiwanese journal of obstetrics & gynecology     Volume:  51     ISSN:  1875-6263     ISO Abbreviation:  Taiwan J Obstet Gynecol     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2013-1-1     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101213819     Medline TA:  Taiwan J Obstet Gynecol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  625-629     Citation Subset:  -    
Copyright Information:
Copyright © 2012. Published by Elsevier B.V.
Affiliation:
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
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