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A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype.
Int J Gen Med. 2022; 15:2799-2806.IJ

Abstract

Klinefelter syndrome is a chromosomal disorder in which one extra X chromosome is present (47,XXY). Several other numeric variants of this syndrome are described that comprise one or more additional sex chromosomes such as 48,XXXY, 48,XXYY and 49,XXXXY. These rare conditions are often associated with increased risk for congenital malformations, additional medical problems, and a more complex psychological phenotype. Since 1963, apart from two infants, only four adult patients with a XXXYY pentasomy have been published as case report. The present paper critically reviews the existing literature and provides detailed assessments of a 25-year-old male with intellectual disability and autism. For the first time, this very rare pentasomy is now recorded using all information about developmental history as well as findings from genetic, somatic, endocrinological and neuropsychological examination. It is concluded that children born with abnormalities of the external genitalia should always be evaluated for genetic abnormalities in order to avoid unwanted delay of appropriately designed multidisciplinary medical and psychological treatment.

Authors+Show Affiliations

Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands. Centre for Consultation and Expertise, Utrecht, The Netherlands. Vincent van Gogh Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.Vincent van Gogh Centre of Excellence for Neuropsychiatry, Venray, The Netherlands. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. Stevig, Specialized and Forensic Care for People with Intellectual Disabilities, Dichterbij, Oostrum, The Netherlands.ASVZ, Centre for People with Intellectual Disabilities, Sliedrecht, The Netherlands.Department of Internal Medicine, Albert Schweitzer Hospital, Dordrecht, The Netherlands.Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

35300132

Citation

Verhoeven, Willem M A., et al. "A Patient With Moderate Intellectual Disability and 49, XXXYY Karyotype." International Journal of General Medicine, vol. 15, 2022, pp. 2799-2806.
Verhoeven WMA, Egger JIM, Mergler S, et al. A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype. Int J Gen Med. 2022;15:2799-2806.
Verhoeven, W. M. A., Egger, J. I. M., Mergler, S., Meijer, T. A. A., Pfundt, R., & Willemsen, M. H. (2022). A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype. International Journal of General Medicine, 15, 2799-2806. https://doi.org/10.2147/IJGM.S348844
Verhoeven WMA, et al. A Patient With Moderate Intellectual Disability and 49, XXXYY Karyotype. Int J Gen Med. 2022;15:2799-2806. PubMed PMID: 35300132.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype. AU - Verhoeven,Willem M A, AU - Egger,Jos I M, AU - Mergler,Sandra, AU - Meijer,Ton A A, AU - Pfundt,Rolph, AU - Willemsen,Marjolein H, Y1 - 2022/03/10/ PY - 2021/11/10/received PY - 2022/02/24/accepted PY - 2022/3/18/entrez PY - 2022/3/19/pubmed PY - 2022/3/19/medline KW - 49 KW - Klinefelter syndrome KW - XXXYY pentasomy KW - autism KW - testosterone KW - treatment design SP - 2799 EP - 2806 JF - International journal of general medicine JO - Int J Gen Med VL - 15 N2 - Klinefelter syndrome is a chromosomal disorder in which one extra X chromosome is present (47,XXY). Several other numeric variants of this syndrome are described that comprise one or more additional sex chromosomes such as 48,XXXY, 48,XXYY and 49,XXXXY. These rare conditions are often associated with increased risk for congenital malformations, additional medical problems, and a more complex psychological phenotype. Since 1963, apart from two infants, only four adult patients with a XXXYY pentasomy have been published as case report. The present paper critically reviews the existing literature and provides detailed assessments of a 25-year-old male with intellectual disability and autism. For the first time, this very rare pentasomy is now recorded using all information about developmental history as well as findings from genetic, somatic, endocrinological and neuropsychological examination. It is concluded that children born with abnormalities of the external genitalia should always be evaluated for genetic abnormalities in order to avoid unwanted delay of appropriately designed multidisciplinary medical and psychological treatment. SN - 1178-7074 UR - https://www.unboundmedicine.com/medline/citation/35300132/A_Patient_with_Moderate_Intellectual_Disability_and_49_XXXYY_Karyotype_ DB - PRIME DP - Unbound Medicine ER -
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