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.
Keywords: Aneuploidy, dysmorphism, 49, XXXXY, Klinefelter syndrome
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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
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: March 22, 2023]. doi:10.24911/JBCGenetics/183-1584426923
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
Araimi MSA, AlObaidani SA, Hashmi ZA, Lawati RA, Mazrooai HAMA. Case report of 49, XXXXY syndrome: first case in Oman. JBCGenetics. (2020), [cited March 22, 2023]; 3(1): 28-31. doi:10.24911/JBCGenetics/183-1584426923
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
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
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
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
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