JBCGenetics |

Case Report

Volume: 3 | Issue: 1 | Published: May 16, 2020 | Pages: 28 - 31 | DOI: 10.24911/JBCGenetics/183-1584426923

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

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

Article Info

Authors

Musallam Said Al Araimi

Boucher, National Genetic Centre, Muscat, Sultanate of Oman

Salwa Ali AlObaidani

Boucher, National Genetic Centre, Muscat, Sultanate of Oman

Zainab Al Hashmi

Boucher, National Genetic Centre, Muscat, Sultanate of Oman

Ruba Al Lawati

Boucher, National Genetic Centre, Muscat, Sultanate of Oman

Hiba Al Mazrooai Al Mazrooai

Boucher, National Genetic Centre, Muscat, Sultanate of Oman

Publication History

Received: March 17, 2020

Revised: April 18, 2020

Accepted: April 30, 2020

Published: May 16, 2020

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.

Keywords: Aneuploidy, dysmorphism, 49, XXXXY, Klinefelter syndrome

Pubmed Style

Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai. Case report of 49, XXXXY syndrome: first case in Oman. JBC Genetics. 2020; 16 (May 2020): 28-31. doi:10.24911/JBCGenetics/183-1584426923

Web Style

Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai. Case report of 49, XXXXY syndrome: first case in Oman. https://www.jbcgenetics.com/articles/2148 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1584426923

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai. Case report of 49, XXXXY syndrome: first case in Oman. JBC Genetics. (2020), [cited April 27, 2025]; 16 (May 2020): 28-31. doi:10.24911/JBCGenetics/183-1584426923

Harvard Style

Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai (2020) Case report of 49, XXXXY syndrome: first case in Oman. JBC Genetics, 16 (May 2020): 28-31. doi:10.24911/JBCGenetics/183-1584426923

Chicago Style

Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai. "Case report of 49, XXXXY syndrome: first case in Oman." 16 (2020), 28-31. doi:10.24911/JBCGenetics/183-1584426923

MLA (The Modern Language Association) Style

Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai. "Case report of 49, XXXXY syndrome: first case in Oman." 16.May 2020 (2020), 28-31. Print. doi:10.24911/JBCGenetics/183-1584426923

APA (American Psychological Association) Style

Musallam Said Al Araimi, Salwa Ali AlObaidani, Zainab Al Hashmi, Ruba Al Lawati, Hiba Al Mazrooai Al Mazrooai (2020) Case report of 49, XXXXY syndrome: first case in Oman. , 16 (May 2020), 28-31. doi:10.24911/JBCGenetics/183-1584426923