Original Article
Volume: 1 | Issue: 2 | Published: May 08, 2018 | Pages: 53 - 56 | DOI: 10.24911/JBCGenetics/183-1542546893
Dysmorphic features as an early presentation of rare sex chromosome aneuploidies
Authors: Salma Hussain Almohammed , Abdul azeem Al-Ibraheem , Yassin Mahmoud Alsaleh , Majed Jawad Al-Buali
Article Info
Authors
Salma Hussain Almohammed
Pediatrics Department, Maternity Children Hospital Al-hassa, Hofuf City, Saudi Arabia
Abdul azeem Al-Ibraheem
Pediatric Consultant and Consultant of Pediatric Gastroenterology, Pediatrics Department, Maternity Children Hospital Al-hassa, Hofuf City, Saudi Arabia
Yassin Mahmoud Alsaleh
Pediatric Consultant and Consultant of Endocrinology. Deputy Chairman of Pediatrics Department, Maternity Children Hospital Al-hassa, Hofuf City, Saudi Arabia
Majed Jawad Al-Buali
Deputy Chairman of Medical Genetic Unite, Pediatrics Department, Maternity Children Hospital Al-hassa, Hofuf, Saudi Arabia
Publication History
Received: November 18, 2018
Revised: December 01, 2018
Accepted: January 08, 2019
Published: May 08, 2018
Abstract
Background The 48,XXXY syndrome is a rare sex chromosome aneuploidy, presenting characteristic features such as prominent facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation. Psychological, endocrinological, auxological issues and orthopedic disorders constitute the major problems in this syndrome, which require long term clinical and biochemical follow-up. Materials and Methods In the present investigation, chromosomal analysis (standard chromosomal karyotyping) and fluorescence in situ hybridization (FISH) was performed according to the standard protocols. Results Here, we report a single affected individual (boy) having Saudi origin, suffering from rare sex chromosomal aneuploidy. The main presenting complaint is the obvious dysmorphic features associated with developmental delay, epicanthal folds, short nose, prominent philtrum, low seated ears, and overlapping toes. Chromosomal analysis and fluorescence in situ hybridization (FISH) revealed an extra two X chromosomes thus causing the 48,XXXY syndrome. Conclusion Patients with facial dysmorphism, developmental delay, unexplained hypotonia and accompanying behavioral disturbances must be tested for sex chromosome aneuploidies. Management and proper diagnosis require a multidisciplinary approach involving pediatric endocrinology, pediatric surgery, orthopedics, psychiatry, and clinical genetic evaluations. Considering 48,XXXY syndrome as a highly severe disorder, cytogenetic tests should be performed as the first diagnostic approach.
Keywords: Sex chromosome aneuploidies, 48, XXXY syndrome, XXXY syndrome, Klinefelter syndrome variant
Pubmed Style
Salma Hussain Almohammed, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, Majed Jawad Al-Buali. Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. JBC Genetics. 2018; 08 (May 2018): 53-56. doi:10.24911/JBCGenetics/183-1542546893
Web Style
Salma Hussain Almohammed, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, Majed Jawad Al-Buali. Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. https://www.jbcgenetics.com/index.php/articles/2112 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1542546893
AMA (American Medical Association) Style
Salma Hussain Almohammed, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, Majed Jawad Al-Buali. Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. JBC Genetics. 2018; 08 (May 2018): 53-56. doi:10.24911/JBCGenetics/183-1542546893
Vancouver/ICMJE Style
Salma Hussain Almohammed, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, Majed Jawad Al-Buali. Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. JBC Genetics. (2018), [cited April 27, 2025]; 08 (May 2018): 53-56. doi:10.24911/JBCGenetics/183-1542546893
Harvard Style
Salma Hussain Almohammed, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, Majed Jawad Al-Buali (2018) Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. JBC Genetics, 08 (May 2018): 53-56. doi:10.24911/JBCGenetics/183-1542546893
Chicago Style
Salma Hussain Almohammed, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, Majed Jawad Al-Buali. "Dysmorphic features as an early presentation of rare sex chromosome aneuploidies." 08 (2018), 53-56. doi:10.24911/JBCGenetics/183-1542546893
MLA (The Modern Language Association) Style
Salma Hussain Almohammed, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, Majed Jawad Al-Buali. "Dysmorphic features as an early presentation of rare sex chromosome aneuploidies." 08.May 2018 (2018), 53-56. Print. doi:10.24911/JBCGenetics/183-1542546893
APA (American Psychological Association) Style
Salma Hussain Almohammed, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, Majed Jawad Al-Buali (2018) Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. , 08 (May 2018), 53-56. doi:10.24911/JBCGenetics/183-1542546893