Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report

Yiming Wang; Joanna Lazier; Diane Myles-Reid; Abdul Noor; David Chitayat; Elena Greenfeld

doi:10.1002/ccr3.6632

Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report

Clin Case Rep. 2023 Apr 23;11(4):e6632. doi: 10.1002/ccr3.6632. eCollection 2023 Apr.

Authors

Yiming Wang^{1

2}, Joanna Lazier³, Diane Myles-Reid⁴, Abdul Noor^{4

5

6}, David Chitayat^{1

4

5}, Elena Greenfeld^{4

5

6}

Affiliations

¹ Division of Clinical and Metabolic Genetics, Department of Pediatrics The Hospital for Sick Children, University of Toronto Toronto Ontario Canada.
² Medical Genetics and Genomics Residency Program University of Toronto Toronto Ontario Canada.
³ Department of Medical Genetics Children's Hospital of Eastern Ontario, University of Ottawa Ottawa Ontario Canada.
⁴ The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology Mount Sinai Hospital, University of Toronto Toronto Ontario Canada.
⁵ Department of Laboratory Medicine and Pathobiology University of Toronto Toronto Ontario Canada.
⁶ Department of Pathology and Laboratory Medicine Mount Sinai Hospital, University of Toronto Toronto Ontario Canada.

Abstract

Small supernumerary marker chromosomes (sSMC) can form small supernumerary ring chromosomes (sSRC). Loss of parentally inherited sSRC containing vital gene content may cause an "unbalanced" karyotype and fetal microdeletion syndromes. Rarely, sSRC with neocentromere can be inherited, leading to a "balanced" karyotype, which can be diagnosed with preimplantation genetic testing.

Keywords: microdeletion; neocentromere; preimplantation genetic testing; small supernumerary ring chromosome.

Publication types

Case Reports