First prenatal case of Kagami-Ogata syndrome associated with a small supernumerary marker chromosome derived from chromosome 15

• Published in: Taiwanese journal of obstetrics & gynecology 2022-03, Vol.61 (2), p.382-384
• Main Authors: Receveur, Aline, Puisney-Dakhli, Chloé, Kleinfinger, Pascale, Gitz, Laurence, Grevoul-Fesquet, Julie, Jouni, Dima, Diot, Romain, Tachdjian, Gérard, Petit, François
• Format: Article
• Language: English
• Subjects: Chromosome defective; Chromosome marker; Chromosomes 14 and 15; Micronucleus; Paternal uniparental disomy 14
• ISSN: 1028-4559
• DOI: 10.1016/j.tjog.2022.02.034

Uniparental disomy (UPD) is one of the common causes of imprinting disorders, which can have an impact on gene expression according to the origin of the parental chromosome. Paternal UPD14 leads to Kagami-Ogata syndrome (KOS), which has a more severe phenotype than maternal UPD14, also called Temple syndrome. Small supernumerary marker chromosomes (SSMCs) are defined as structural chromosomal abnormalities that may be inherited or come from micronucleus-mediated chromothripsis. The association of UPD and SSMC is very rare but not fortuitous and several mechanisms can explain this phenomenon. We report the first prenatal case of paternal isodisomy for chromosome 14 associated with a de novo SSMC originating from chromosome 15 and revealed by KOS. The mechanism could be a chromothripsis mediated by trisomy rescue. Regarding this case, in relation to a de novo SSMC, it could be important to extend the research of UPD to other acrocentric chromosomes if ultrasound signs are evocative.