Home|Journals|Articles by Year Follow on Twitter

Directory for Medical Articles
 

Open Access

Case Report



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



Similar Articles

Safe Zones for Percutaneous Carpal Tunnel Release.
Wu PT, Chern TC, Wu TT, Shao CJ, Wu KC, Kuo LC, Jou IM
Hand clinics. 2022; 38(1): 83-90

Contributing factors common to COVID‑19 and gastrointestinal cancer.
Kostoff RN, Briggs MB, Kanduc D, Shores DR, Kovatsi L, Drakoulis N, Porter AL, Tsatsakis A, Spandidos DA
Oncology reports. 2022; 47(1):

Cost-Effectiveness of Sonography-Guided Surgery.
Kinanga R, Moungondo F
Hand clinics. 2022; 38(1): 65-73

Preoperative Evaluation of Thenar Muscles in Carpal Tunnel Syndrome by Ultrasonography.
Nagura I, Kanatani T, Harada Y, Takase F, Inui A, Mifune Y, Kuroda R
Hand clinics. 2022; 38(1): 55-58

Sonographic Diagnosis of Carpal Tunnel Syndrome.
Kluge S, Langer M, Schelle T
Hand clinics. 2022; 38(1): 35-53


Full-text options


Latest Statistics about COVID-19
• pubstat.org


Add your Article(s) to Indexes
• citeindex.org






Covid-19 Trends and Statistics
ScopeMed.com
CiteIndex.org
CancerLine
FoodsLine
PhytoMedline
Follow ScopeMed on Twitter
Author Tools
eJPort Journal Hosting
About BiblioMed
License Information
Terms & Conditions
Privacy Policy
Contact Us

The articles in Bibliomed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
ScopeMed is a Database Service for Scientific Publications. Copyright ScopeMed Information Services.



ScopeMed Web Sites