A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature.

Multiple small supernumerary marker chromosomes (sSMCs) are among the rarest cytogenetic abnormalities as they represent roughly 1.4% of cases with sSMCs. We report on a prenatal case presenting de novo multiple sSMCs; these sSMCs were characterized by array CGH and FISH and resulted deriving from three different chromosomes: a der(13), a der(15) and a der(20). The co-presence of der(13), der(20), and der(15) have not been reported yet. The clinical consequences of this marker combination cannot be precisely predicted. However, according to the publicly available databases, the partial trisomies of chromosome 13 and 20 have probably a pathogenic effect. It is worth noting that a cooperative effect, due to interactions among genes harbored on the three derivatives, cannot be excluded, making the genetic counseling challenging.

Citation

Veronica Bertini, Cecilia Giuliani, Maria Immacolata Ferreri, Alessandro Orsini, Alice Bonuccelli, Diego Peroni, Clara Bonaglia, Angelo Valetto. A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 2021 Sep;34(17):2918-2922

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PMID: 31570022

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