Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant

American Journal of Medical Genetics
J M MilunskyA Milunsky

Abstract

We describe a liveborn infant with uniparental disomy (UPD) with trisomy 15 mosaicism. Third trimester amniocentesis yielded a 46,XX/47,XX,+15 karyotype. Symmetrical growth retardation, distinct craniofacies, congenital heart disease, severe hypotonia and minor skeletal anomalies were noted. The infant died at 6 weeks of life. Peripheral lymphocyte chromosomes were "normal" 46,XX in 100 cells. Parental lymphocyte chromosomes were normal. Skin biopsy showed 47,XX,+15 in 80% of fibroblasts and results were equivalent in fibroblasts from autopsy lung tissue. Molecular analysis revealed maternal uniparental heterodisomy for chromosome 15 in the 46,XX cell line. We describe an emerging phenotype of trisomy 15 mosaicism, confirm that more than one tissue should be studied in all cases of suspected mosaicism, and suggest that UPD be considered in all such cases.

References

Oct 1, 1992·Journal of Medical Genetics·C P BennettM J Seller
Oct 29, 1992·Nature·J WeissenbachM Lathrop
Jun 1, 1992·Prenatal Diagnosis·J Lähdetie, T Lakkala
Aug 11, 1990·Nucleic Acids Research·J L WeberP E May
Jan 1, 1981·Human Genetics·M TzanchevaZ Damjanova
Apr 1, 1981·Journal of Medical Genetics·S ColdwellC Bateman

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Citations

Aug 5, 2000·American Journal of Medical Genetics·E OlanderE A Wulfsberg
Jun 15, 2004·Clinical Dysmorphology·Sabine A Knauer-FischerBerthold P Hauffa
Dec 12, 2012·American Journal of Medical Genetics. Part a·Kosuke IzumiLaura K Conlin
Jul 8, 2005·American Journal of Medical Genetics. Part a·Natalia V Kovaleva
Jun 26, 2015·American Journal of Medical Genetics. Part a·Anita MorandiClaudio Maffeis
Mar 31, 1998·Clinical Genetics·N ElçiogluA C Berry
Mar 5, 2015·American Journal of Medical Genetics. Part a·Jacob McPaddenSamantha A Schrier Vergano
Jan 10, 1998·Trends in Genetics : TIG·L D Hurst, G T McVean

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