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      Rare Double Aneuploidy (Down-Klinefelter Syndrome): A Case Report

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          Abstract

          Double aneuploidies, such as Down syndrome and sex chromosome aneuploidies, are relatively rare. One rare form of double aneuploidy, Down-Klinefelter syndrome, is described here. The phenotypic characteristics of a three-year-old child showed the presence of features typical of Down syndrome. He had a global developmental delay, small testes, and diabetes mellitus by 18 months of age. Regardless of the presenting clinical features, karyotyping should be performed in all patients with suspected Down syndrome. In Down-Klinefelter syndrome, anticipatory phenotype goes beyond the sum of individual syndromic characteristics.

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          Down syndrome

          Stylianos E Antonarakis, Brian Skotko, Michael Rafii … (2020)
          Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syndrome (DS). DS is among the most genetically complex of the conditions that are compatible with human survival post-term, and the most frequent survivable autosomal aneuploidy. Mouse models of DS, involving trisomy of all or part of human chromosome 21 or orthologous mouse genomic regions, are providing valuable insights into the contribution of triplicated genes or groups of genes to the many clinical manifestations in DS. This endeavour is challenging, as there are >200 protein-coding genes on chromosome 21 and they can have direct and indirect effects on homeostasis in cells, tissues, organs and systems. Although this complexity poses formidable challenges to understanding the underlying molecular basis for each of the many clinical features of DS, it also provides opportunities for improving understanding of genetic mechanisms underlying the development and function of many cell types, tissues, organs and systems. Since the first description of trisomy 21, we have learned much about intellectual disability and genetic risk factors for congenital heart disease. The lower occurrence of solid tumours in individuals with DS supports the identification of chromosome 21 genes that protect against cancer when overexpressed. The universal occurrence of the histopathology of Alzheimer disease and the high prevalence of dementia in DS are providing insights into the pathology and treatment of Alzheimer disease. Clinical trials to ameliorate intellectual disability in DS signal a new era in which therapeutic interventions based on knowledge of the molecular pathophysiology of DS can now be explored; these efforts provide reasonable hope for the future.
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            National population‐based estimates for major birth defects, 2010–2014

            Cara Mai, Jennifer Isenburg, Mark Canfield … (2019)
            Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth cohort 2010-2014.
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              Human aneuploidy: incidence, origin, and etiology.

              T Hassold, M Abruzzo, K Adkins … (1996)
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                Author and article information

                Journal
                Journal ID (nlm-ta): Cureus
                Journal ID (iso-abbrev): Cureus
                Journal ID (issn): 2168-8184
                Title: Cureus
                Publisher: Cureus (Palo Alto (CA) )
                ISSN (Electronic): 2168-8184
                Publication date (Electronic, pub): 10 November 2022
                Publication date (Electronic, collection): November 2022
                Volume: 14
                Issue: 11
                Electronic Location Identifier: e31330
                Affiliations
                [1 ] Pediatric Endocrinology, King Faisal General Hospital, Al-Ahsa, SAU
                [2 ] Pediatric Endocrinology, Diabeter Al-Ahsa, Al-Ahsa, SAU
                [3 ] Pediatrics, King Faisal General Hospital, Al-Ahsa, SAU
                [4 ] Family and Community Medicine, Primary Health Care Corporation, Al-Ahsa, SAU
                [5 ] Pediatric Gastroenterology, King Faisal General Hospital, Al-Ahsa, SAU
                [6 ] Neonatology, Maternity and Children's Hospital, Al-Ahsa, SAU
                Author notes
                Article
                DOI: 10.7759/cureus.31330
                PMC ID: 9741132
                SO-VID: fe83bf80-06a2-418e-9307-f9a730ac6577
                Copyright © Copyright © 2022, Al Motawa et al.
                License:

                This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                Date accepted : 10 November 2022
                Categories
                Subject: Endocrinology/Diabetes/Metabolism
                Subject: Genetics
                Subject: Pediatrics

                Keywords: klinefelter's syndrome,down's syndrome,48xxy+21,diabetes mellitus,down-klinefelter syndrome,double aneuploidy
                Data availability:
                Keywords: klinefelter's syndrome, down's syndrome, 48xxy+21, diabetes mellitus, down-klinefelter syndrome, double aneuploidy

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