Am J Med Genet A. 2021 Nov;185(11):3507-3509. doi: 10.1002/ajmg.a.62471. Epub 2021 Sep 02.

The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report.

American journal of medical genetics. Part A

Desalyn Louise Johnson, Caterina Abdala Villa, Matthew C Lustig, Nathaniel H Robin

PMID: 34472202 DOI: 10.1002/ajmg.a.62471

Abstract

Tetrasomy 21 is a rare occurrence. Only 14 cases have been reported in the literature, 8 of which are partial tetrasomy cases and 6 which are complete tetrasomy cases. Of the incidences, no proband with true complete tetrasomy 21 has survived the neonatal period. We report complete mosaic tetrasomy 21 in a female infant with the typical Down syndrome phenotype, including Hirschsprung's disease and atrioventricular (AV) canal defect. This is in contrast to cases of partial tetrasomy 21, which often have an atypical trisomy 21 presentation and multiple nonspecific traits, including short stature, microcephaly, and developmental delays. This case demonstrates the difference in clinical presentation between the partial and complete subtype of tetrasomy 21 and provides the first postnatal clinical picture of an infant with true mosaic complete tetrasomy 21.

© 2021 Wiley Periodicals LLC.

Keywords: AV canal defect; Down syndrome phenotype; Hirschsprung's disease; complete tetrasomy; tetrasomy 21

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