The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girl

European Journal of Medical Genetics
Olaf RittingerChristine Fauth

Abstract

Diploid/triploid mosaicism is a rare chromosome aberration characterized by growth and mental retardation, muscular hypotonia, clinodactyly, syndactyly of fingers and toes, asymmetry of the body and the face, truncal obesity, and pigmentary anomalies of the skin. Many patients initially present with severe growth retardation and develop truncal obesity later in life. Variable phenotype expression during development and restriction of triploid cells to certain tissues explain why the diagnosis of diploid/triploid mosaicism is often delayed. Here, we report on a moderately retarded 14-year-old girl with diploid/triploid mosaicism due to inclusion of the second polar body, whose changing phenotype overlaps considerably with different genetic disorders associated with aberrant genomic imprinting. The observation that triploid cells, which in our patient show remarkably variable distribution in different tissues, may also be present in easily accessible tissues such as urinary sediment or buccal smear may contribute to an earlier diagnosis of this rare syndrome.

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Citations

Dec 12, 2012·Journal of Assisted Reproduction and Genetics·Toshiaki HinoHiroyuki Tateno
Nov 15, 2015·American Journal of Medical Genetics. Part a·Jennifer E PoseyAmy M Breman
Mar 15, 2011·Best Practice & Research. Clinical Endocrinology & Metabolism·Katrin Hoffmann, Raoul Heller
Jul 7, 2009·Trends in Biotechnology·Paul H Dear
Jan 22, 2011·European Journal of Medical Genetics·Susanne E BoonenKirstine Ravn
Dec 23, 2016·Pediatrics International : Official Journal of the Japan Pediatric Society·Miki OnoKenji Ihara
Nov 7, 2014·Journal of Pediatric Gastroenterology and Nutrition·Farida K LalaniMirza B Beg
Mar 7, 2018·Orphanet Journal of Rare Diseases·Anna Boye KromannAnette Bygum
Oct 12, 2018·American Journal of Medical Genetics. Part a·Jason C CarsonUrvashi Surti
Jun 13, 2017·Nucleic Acids Research·Iris Patiño-ParradoJosé M Frade
Feb 2, 2021·Prenatal Diagnosis·Heleen MassetJoris R Vermeesch

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