Case report of 49, XXXXY syndrome: first case in Oman

Musallam Said Al Araimi; Salwa Ali AlObaidani; Zainab Al Hashmi; Ruba Al Lawati; Hiba Al Mazrooai Al Mazrooai

doi:10.24911/JBCGenetics/183-1584426923

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Case Report
Online Published: 16 May 2020

JBCGenetics. 2020; 3(1): 28-31

doi: 10.24911/JBCGenetics/183-1584426923

Case report of 49, XXXXY syndrome: first case in Oman

Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai.

Abstract
Background: The incidence of sex chromosome aneuploidies is 1:400. Klinefelter syndrome is considered to be the most common type of sex chromosome aneuploidy, manifested as variants, such as 48,XXXY, 48,XXYY and 49,XXXXY. Nondisjunction of the X chromosome during meiosis I and II is considered as the cause of this type of aneuploidy. The classic clinical presentation of Klinefelter Syndrome is a triad of hypogonadism, mental retardation, and musculoskeletal anomalies.
Case Presentation: In this case report, we describe a 2-year-old male child identified postnatally to have low birth weight, congenital heart defect, inguinal hernia, facial dysmorphism, and genital organs anomalies. Chromosomal analysis revealed a karyotype of 49,XXXXY and the comparative genomic hybridization (CGH) array analysis revealed a 155,065 kilo base pair duplication on chromosome Xp22.33q28 (168,546, −155,233,731) X4.
Conclusion: 49,XXXXY karyotype is considered as the rarest sex chromosome aneuploidy syndrome. To our knowledge, this study is the first report of a patient with 49,XXXXY syndrome from Oman.

Key words: Aneuploidy, dysmorphism, 49, XXXXY, Klinefelter syndrome

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How to Cite this Article

Pubmed Style

Araimi MSA, AlObaidani SA, Hashmi ZA, Lawati RA, Mazrooai HAMA. Case report of 49, XXXXY syndrome: first case in Oman. JBCGenetics. 2020; 3(1): 28-31. doi:10.24911/JBCGenetics/183-1584426923

Web Style

Araimi MSA, AlObaidani SA, Hashmi ZA, Lawati RA, Mazrooai HAMA. Case report of 49, XXXXY syndrome: first case in Oman. https://www.jbcgenetics.com/?mno=92925 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1584426923

AMA (American Medical Association) Style

Araimi MSA, AlObaidani SA, Hashmi ZA, Lawati RA, Mazrooai HAMA. Case report of 49, XXXXY syndrome: first case in Oman. JBCGenetics. 2020; 3(1): 28-31. doi:10.24911/JBCGenetics/183-1584426923

Vancouver/ICMJE Style

Araimi MSA, AlObaidani SA, Hashmi ZA, Lawati RA, Mazrooai HAMA. Case report of 49, XXXXY syndrome: first case in Oman. JBCGenetics. (2020), [cited November 14, 2024]; 3(1): 28-31. doi:10.24911/JBCGenetics/183-1584426923

Harvard Style

Araimi, M. S. A., AlObaidani, . S. A., Hashmi, . Z. A., Lawati, . R. A. & Mazrooai, . H. A. M. A. (2020) Case report of 49, XXXXY syndrome: first case in Oman. JBCGenetics, 3 (1), 28-31. doi:10.24911/JBCGenetics/183-1584426923

Turabian Style

Araimi, Musallam Said Al, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, and Hiba Al Mazrooai Al Mazrooai. 2020. Case report of 49, XXXXY syndrome: first case in Oman. Journal of Biochemical and Clinical Genetics, 3 (1), 28-31. doi:10.24911/JBCGenetics/183-1584426923

Chicago Style

Araimi, Musallam Said Al, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, and Hiba Al Mazrooai Al Mazrooai. "Case report of 49, XXXXY syndrome: first case in Oman." Journal of Biochemical and Clinical Genetics 3 (2020), 28-31. doi:10.24911/JBCGenetics/183-1584426923

MLA (The Modern Language Association) Style

Araimi, Musallam Said Al, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, and Hiba Al Mazrooai Al Mazrooai. "Case report of 49, XXXXY syndrome: first case in Oman." Journal of Biochemical and Clinical Genetics 3.1 (2020), 28-31. Print. doi:10.24911/JBCGenetics/183-1584426923

APA (American Psychological Association) Style

Araimi, M. S. A., AlObaidani, . S. A., Hashmi, . Z. A., Lawati, . R. A. & Mazrooai, . H. A. M. A. (2020) Case report of 49, XXXXY syndrome: first case in Oman. Journal of Biochemical and Clinical Genetics, 3 (1), 28-31. doi:10.24911/JBCGenetics/183-1584426923

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