Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report-Reference-Cited by-同舟云学术

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

Published:2023-04 Issue:4 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Wang Yiming¹²^ORCID,Lazier Joanna³,Myles‐Reid Diane⁴,Noor Abdul⁴⁵⁶^ORCID,Chitayat David¹⁴⁵,Greenfeld Elena⁴⁵⁶

Affiliation:

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

AbstractSmall 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.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6632

Reference8 articles.

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