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

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          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.

          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.

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          Most cited references8

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          Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics.

          Thomas Liehr, Anja Weise (2007)
          In this study the substantial and in part contradictory data available in the literature was collected concerning the frequency of small supernumerary marker chromosomes (sSMC) in the human population in general, and in special subpopulations. One hundred and thirty-two studies on sSMC were reviewed. In summary 1,288,693 cytogenetically studied cases detecting 980 sSMC were compiled. In 132 international surveys there were no ethnic effects detected in the sSMC frequency. sSMC were present in 0.075% of unselected prenatal cases but only in 0.044% of consecutively studied postnatal ones. In infertile subjects, 0.125% were sSMC carriers, distinguishing male from female subjects by a 7.5:1 difference in sSMC frequency for this special group. In developmentally retarded patients the sSMC rate was elevated to 0.288%, similar to prenatal cases with ultrasound abnormalities (0.204%). No increased risk for the presence of sSMC was detected in ICSI-induced pregnancies. Worldwide there are approximately 2.7 x 10(6) living sSMC carriers; 1.8 x 10(6) have a de novo sSMC and approximately 70% of those are clinically normal. Strikingly, 30-50% of pregnancies diagnosed with an sSMC fetus are terminated. This may be connected with the empirical risk that approximately 30% of sSMC carriers manifest clinical abnormalities. Thus, in summary there is a strong need for a better genotype-phenotype correlation enabling better genetic counseling.
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            Neocentromeres: role in human disease, evolution, and centromere study.

            Royden K. T. Choo, David Amor (2002)
            The centromere is essential for the proper segregation and inheritance of genetic information. Neocentromeres are ectopic centromeres that originate occasionally from noncentromeric regions of chromosomes. Despite the complete absence of normal centromeric alpha-satellite DNA, human neocentromeres are able to form a primary constriction and assemble a functional kinetochore. Since the discovery and characterization of the first case of a human neocentromere in our laboratory a decade ago, 60 examples of constitutional human neocentromeres distributed widely across the genome have been described. Typically, these are located on marker chromosomes that have been detected in children with developmental delay or congenital abnormalities. Neocentromeres have also been detected in at least two types of human cancer and have been experimentally induced in Drosophila. Current evidence from human and fly studies indicates that neocentromere activity is acquired epigenetically rather than by any alteration to the DNA sequence. Since human neocentromere formation is generally detrimental to the individual, its biological value must lie beyond the individual level, such as in karyotype evolution and speciation.
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              FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature.

              J Crolla (1998)
              Using fluorescence in situ hybridization (FISH), supernumerary marker chromosomes (SMC) from all the human autosomes except chromosome 5, have now been described, most being derived from the acrocentric autosomes. This review summarizes the results of 168 cases of autosomal SMC excluding those from chromosome 15 where FISH has been used to define the chromosomal origin of the SMC and from which phenotypic information is available. Although the number of reported cases from some of the chromosomal SMC groups remains small, the pooled data suggest that the risk of an abnormal phenotype associated with a randomly ascertained de novo SMC derived from the acrocentric autosomes (excluding 15s) is approximately 7% compared with approximately 28% for SMCs derived from the nonacrocentric autosomes.
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                Author and article information

                Contributors
                Elena Greenfeld: elena.greenfeld@sinaihealth.ca
                Journal
                Journal ID (nlm-ta): Clin Case Rep
                Journal ID (iso-abbrev): Clin Case Rep
                Journal ID (doi): 10.1002/(ISSN)2050-0904
                Journal ID (publisher-id): CCR3
                Title: Clinical Case Reports
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2050-0904
                Publication date (Electronic): 23 April 2023
                Publication date Collection: April 2023
                Volume: 11
                Issue: 4 ( doiID: 10.1002/ccr3.v11.4 )
                Electronic Location Identifier: e6632
                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
                Author notes
                [*] [* ] Correspondence

                Elena Greenfeld, Division of Diagnostic Medical Genetics; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital‐ Joseph and Wolf Lebovic Health Complex, Associate Professor, Department of Laboratory Medicine and Pathobiology; Department of Obstetrics and Gynaecology, University of Toronto, Toronto, Ontario, Canada.

                Email: elena.greenfeld@ 123456sinaihealth.ca

                Author information
                https://orcid.org/0000-0001-8031-6184
                https://orcid.org/0000-0002-4892-5876
                Article
                Publisher ID: CCR36632 Other ID: CCR3-2022-08-1681.R1
                DOI: 10.1002/ccr3.6632
                PMC ID: 10123304
                PubMed ID: 37102101
                SO-VID: 84a0029d-30d5-45dd-ba7e-77fadce29dfe
                Copyright © © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

                History
                Date revision received : 31 October 2022
                Date received : 09 August 2022
                Date accepted : 08 November 2022
                Page count
                Figures: 1, Tables: 1, Pages: 4, Words: 2180
                Categories
                Subject: Case Report
                Subject: Case Report
                Custom metadata
                source-schema-version-number 2.0
                cover-date April 2023
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:6.2.7 mode:remove_FC converted:24.04.2023

                Keywords: microdeletion,neocentromere,preimplantation genetic testing,small supernumerary ring chromosome
                Data availability:
                Keywords: microdeletion, neocentromere, preimplantation genetic testing, small supernumerary ring chromosome

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