Literature DB >> 10588835

Digynic triploid infant surviving for 46 days.

T Hasegawa1, N Harada, K Ikeda, T Ishii, I Hokuto, K Kasai, M Tanaka, R Fukuzawa, N Niikawa, N Matsuo.   

Abstract

We report on a triploid infant who survived for 46 days. She had severe intrauterine growth retardation, relative macrocephaly, and a small, noncystic placenta, which are manifestations compatible with type II phenotype. Cultured amniotic fluid cells, skin fibroblasts, cord blood, and peripheral blood lymphocytes all showed a nonmosaic 69,XXX karyotype. Analysis of chromosomal heteromorphisms and microsatellite DNA polymorphisms in the infant and her parents indicated that the extra haploid set in the infant resulted from nondisjunction at maternal second meiosis. Postzygotic, mitotic nondisjunction was ruled out because of the presence of both homozygous and heterozygous markers of maternal origin. A search of the literature demonstrated five triploid infants, including the girl we described, who survived 4 weeks or more, and the parental origin of whose triploidy was studied: four were digynic and one was diandric. These findings support the notion that type II triploids are digynic in parental origin and that they survive longer than type I, diandric triploids. Copyright 1999 Wiley-Liss, Inc.

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Year:  1999        PMID: 10588835     DOI: 10.1002/(sici)1096-8628(19991203)87:4<306::aid-ajmg5>3.0.co;2-6

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

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Journal:  Genetics       Date:  2007-01-21       Impact factor: 4.562

2.  Triploidy in a fetus following amniocentesis referred for maternal serum screening test at second trimester.

Authors:  E Bagherizadeh; M Oveisi; Z Hadipour; A Saremi; Y Shafaghati; F Behjati
Journal:  Indian J Hum Genet       Date:  2010-05

3.  Digynic triploidy: utility and challenges of noninvasive prenatal testing.

Authors:  Julie Fleischer; Archana Shenoy; Katherine Goetzinger; Catherine E Cottrell; Dustin Baldridge; Frances V White; Marwan Shinawi
Journal:  Clin Case Rep       Date:  2015-04-09

4.  Higher limb asymmetry in deceased human fetuses and infants with aneuploidy.

Authors:  Jessica Bots; Clara M A ten Broek; Jeroen A M Belien; Marianna Bugiani; Frietson Galis; Stefan Van Dongen
Journal:  Sci Rep       Date:  2014-01-15       Impact factor: 4.379

  4 in total

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