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

Autor: Wang Y; Division of Clinical and Metabolic Genetics, Department of Pediatrics The Hospital for Sick Children, University of Toronto Toronto Ontario Canada.; Medical Genetics and Genomics Residency Program University of Toronto Toronto Ontario Canada., Lazier J; Department of Medical Genetics Children's Hospital of Eastern Ontario, University of Ottawa Ottawa Ontario Canada., Myles-Reid D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology Mount Sinai Hospital, University of Toronto Toronto Ontario Canada., Noor A; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology Mount Sinai Hospital, University of Toronto Toronto Ontario Canada.; Department of Laboratory Medicine and Pathobiology University of Toronto Toronto Ontario Canada.; Department of Pathology and Laboratory Medicine Mount Sinai Hospital, University of Toronto Toronto Ontario Canada., Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics The Hospital for Sick Children, University of Toronto Toronto Ontario Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology Mount Sinai Hospital, University of Toronto Toronto Ontario Canada.; Department of Laboratory Medicine and Pathobiology University of Toronto Toronto Ontario Canada., Greenfeld E; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology Mount Sinai Hospital, University of Toronto Toronto Ontario Canada.; Department of Laboratory Medicine and Pathobiology University of Toronto Toronto Ontario Canada.; Department of Pathology and Laboratory Medicine Mount Sinai Hospital, University of Toronto Toronto Ontario Canada.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2023 Apr 23; Vol. 11 (4), pp. e6632. Date of Electronic Publication: 2023 Apr 23 (Print Publication: 2023).
DOI: 10.1002/ccr3.6632
Abstrakt: 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.
Competing Interests: The authors declare in conflict of interest.
(© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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