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

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.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1584426923

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


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


Authors
Musallam Said Al Araimi
Boucher, National Genetic Centre, Muscat, Sultanate of Oman
PubMed articlesGoogle scholar articles

Salwa Ali AlObaidani
Boucher, National Genetic Centre, Muscat, Sultanate of Oman
PubMed articlesGoogle scholar articles

Zainab Al Hashmi
Boucher, National Genetic Centre, Muscat, Sultanate of Oman
PubMed articlesGoogle scholar articles

Ruba Al Lawati
Boucher, National Genetic Centre, Muscat, Sultanate of Oman
PubMed articlesGoogle scholar articles

Hiba Al Mazrooai Al Mazrooai
Boucher, National Genetic Centre, Muscat, Sultanate of Oman
PubMed articlesGoogle scholar articles


Correspondence to:
. Musallam Said Al Araimi, Boucher, National Genetic Centre, Muscat, Sultanate of Oman.; musallam95@yahoo.com

Publication history
Received 17 Mar 2020
Revised 18 Apr 2020
Accepted 30 Apr 2020
Published online 16 May 2020
Published in print 27 May 2020

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: October 27, 2020]. 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 October 27, 2020]; 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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