Original Article
JBCGenetics. 2018; 1(2): 53-56

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.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1542546893

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


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Dysmorphic features as an early presentation of rare sex chromosome aneuploidies


Authors
Salma Hussain Almohammed
Pediatrics Department, Maternity Children Hospital Al-hassa, Hofuf City, Saudi Arabia
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Abdul azeem Al-Ibraheem
Pediatric Consultant and Consultant of Pediatric Gastroenterology, Pediatrics Department, Maternity Children Hospital Al-hassa, Hofuf City, Saudi Arabia
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Yassin Mahmoud Alsaleh
Pediatric Consultant and Consultant of Endocrinology. Deputy Chairman of Pediatrics Department, Maternity Children Hospital Al-hassa, Hofuf City, Saudi Arabia
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Majed Jawad Al-Buali

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Correspondence to:
. Pediatric Consultant and Consultant of Endocrinology. Deputy Chairman of Pediatrics Department, Maternity Children Hospital Al-hassa, Hofuf City, Saudi Arabia; doctormajed1@gmail.com

Publication history
Received 18 Nov 2018
Revised 01 Dec 2018
Accepted 08 Jan 2019
Published in print 09 Mar 2019

How to cite this article

Pubmed Style

Almohammed SH, Al-Ibraheem Aa, Alsaleh YM, Al-Buali MJ. Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. JBCGenetics. 2018; 1(2): 53-56. doi:10.24911/JBCGenetics/183-1542546893


Web Style

Almohammed SH, Al-Ibraheem Aa, Alsaleh YM, Al-Buali MJ. Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. https://www.jbcgenetics.com//?mno=17763 [Access: October 19, 2019]. doi:10.24911/JBCGenetics/183-1542546893


AMA (American Medical Association) Style

Almohammed SH, Al-Ibraheem Aa, Alsaleh YM, Al-Buali MJ. Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. JBCGenetics. 2018; 1(2): 53-56. doi:10.24911/JBCGenetics/183-1542546893


Vancouver/ICMJE Style

Almohammed SH, Al-Ibraheem Aa, Alsaleh YM, Al-Buali MJ. Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. JBCGenetics. (2018), [cited October 19, 2019]; 1(2): 53-56. doi:10.24911/JBCGenetics/183-1542546893


Harvard Style

Almohammed, S. H., Al-Ibraheem, . A. a., Alsaleh, . Y. M. & Al-Buali, . M. J. (2018) Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. JBCGenetics, 1 (2), 53-56. doi:10.24911/JBCGenetics/183-1542546893


Turabian Style

Almohammed, Salma Hussain, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, and Majed Jawad Al-Buali. 2018. Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. Journal of Biochemical and Clinical Genetics, 1 (2), 53-56. doi:10.24911/JBCGenetics/183-1542546893


Chicago Style

Almohammed, Salma Hussain, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, and Majed Jawad Al-Buali. "Dysmorphic features as an early presentation of rare sex chromosome aneuploidies." Journal of Biochemical and Clinical Genetics 1 (2018), 53-56. doi:10.24911/JBCGenetics/183-1542546893


MLA (The Modern Language Association) Style

Almohammed, Salma Hussain, Abdul azeem Al-Ibraheem, Yassin Mahmoud Alsaleh, and Majed Jawad Al-Buali. "Dysmorphic features as an early presentation of rare sex chromosome aneuploidies." Journal of Biochemical and Clinical Genetics 1.2 (2018), 53-56. Print. doi:10.24911/JBCGenetics/183-1542546893


APA (American Psychological Association) Style

Almohammed, S. H., Al-Ibraheem, . A. a., Alsaleh, . Y. M. & Al-Buali, . M. J. (2018) Dysmorphic features as an early presentation of rare sex chromosome aneuploidies. Journal of Biochemical and Clinical Genetics, 1 (2), 53-56. doi:10.24911/JBCGenetics/183-1542546893


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