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      47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature

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          Abstract

          Klinefelter's syndrome is a frequent genetic sexual alteration in males, associated with the 47,XXY aneuploidy. Several syndrome variants are caused by different X and Y polysomy and mosaicisms, including the 49,XXXXY condition described by some authors as Fraccaro's syndrome. Mosaics with three or more different chromosomal lines are very rare. Here, we describe a case with XXY/XXXY/XXXXY mosaic in a newborn with clinical features of Fraccaro's syndrome, but also with obstructive hydrocephaly which has not been reported previously.

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          Klinefelter syndrome and other sex chromosomal aneuploidies

          Jeannie Visootsak, John M Graham (2006)
          The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH), and luteinizing hormone (LH). The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15–16 points, with language most affected, particularly expressive language skills.
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            A child with 49 chromosomes.

            J Lindsten, M Fraccaro, K KAIJSER (1960)
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              49,XXXXY: a distinct phenotype. Three new cases and review.

              Gail H. Vance, Daniel J. Peet, Carol G T Vance … (1998)
              Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently labelled as having Klinefelter syndrome or as being a "Klinefelter variant." Because of distinct clinical features, we delineate the 49,XXXXY syndrome as separate from Klinefelter syndrome, and emphasise the prevalence of congenital heart defects. We also report three new cases of 49,XXXXY syndrome and briefly discuss patient management.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Med Case Reports
                Title: Journal of Medical Case Reports
                Publisher: BioMed Central (London )
                ISSN (Electronic): 1752-1947
                Publication date Collection: 2007
                Publication date (Electronic): 19 September 2007
                Volume: 1
                Page: 94
                Affiliations
                [1 ]Departamento de Genética, Hospital Pediátrico de Sinaloa. Culiacán, Sinaloa, México
                [2 ]Laboratorio de Inmunología y Biología Molecular, Doctorado en Biotecnología, Facultad de Ciencias Químico Biológicas, Universidad Autónoma de Sinaloa. Culiacán, Sinaloa, México
                [3 ]Departamento de Inmunología y Reumatología, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México D.F., México
                Article
                Publisher ID: 1752-1947-1-94
                DOI: 10.1186/1752-1947-1-94
                PMC ID: 2040152
                PubMed ID: 17880714
                SO-VID: 44f73dcb-3192-4156-a5a0-fde8d919ec12
                Copyright © Copyright © 2007 Dueñas-Arias et al; licensee BioMed Central Ltd.
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 29 May 2007
                Date accepted : 19 September 2007
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Medicine
                Data availability:
                ScienceOpen disciplines: Medicine

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