A case of paternal uniparental disomy for chromosome 11

descriptionPublicationkeyboard_double_arrow_right Article 01 Aug 1995 English Publisher:WileyJournal:Prenatal Diagnosis, volume 15, pages 773-777 (issn: 0197-3851, eissn: 1097-0223,

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Authors: A, Webb; J, Beard; C, Wright; S, Robson; J, Wolstenholme; J, Goodship;

doi: 10.1002/pd.1970150816

pmid: 7479599

A case of paternal uniparental disomy for chromosome 11

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Abstract

AbstractWe report a case of paternal uniparental disomy for chromosome 11 that presented as severe intrauterine growth retardation. Autopsy following intrauterine death also revealed aberrant intestinal rotation and hypospadias. Chromosome analysis of direct preparations from placental biopsy showed an abnormal 47,XY,+11 karyotype. Analysis of long‐term cultures from the placenta revealed 46,XY/47,XY,+11 mosaicism. Fluorescence in situ hybridization (FISH) studies on interphase nuclei confirmed trisomy 11 in multiple placental sites but detected only disomic cells in fetal skin. Investigation using microsatellite polymorphisms demonstrated paternal isodisomy at loci D11S909, D11S956, and D11S488, and paternal heterodisomy at locus D11S928.

Related Organizations

Newcastle University
United Kingdom
Royal Victoria Infirmary
United Kingdom
Newcastle upon Tyne Hospitals NHS Foundation Trust
United Kingdom

Keywords

Adult, Chromosome Aberrations, Male, Fetal Growth Retardation, Mosaicism, Chromosomes, Human, Pair 11, Trisomy, DNA, Pregnancy, Karyotyping, Prenatal Diagnosis, Humans, Female, In Situ Hybridization, Fluorescence

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