Case Report
JBCGenetics. 2018; 1(2): 93-97

A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman

Authors: Musallam Said Al-Araimi, Aliya Mahmood Al-Hosni, Ali Ahmed Al-Yahmadi, Salma Mohammed Al-Harasi.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1532358706

Abstract

Background: This report provides a molecular cytogenetic characterization of an Omani girl with 19p13.12 microdeletion and compares her clinical features of global developmental delay (GDD) and multiple congenital anomalies with the gene mutations and disorders associated with this locus. Case Presentation: The 4-year-old Omani girl presented to the National Genetic Center with the following clinical features: GDD, hypotonia, multiple congenital anomalies, facial dysmorphism, and skeletal anomalies. Array comparative genomic hybridization (CGH) identified a 1.913 Mb de novo microdeletion in the patient within 19p13.12. The deletion includes 53 genes, of which 35 are Online Mendelian Inheritance in Man (OMIM) genes. The deleted region includes NFIX (OMIM #164005), CACNA1A (OMIM # 601011) and NACC1 (OMIM # 610672) genes which are previously reported to be associated with the presented clinical features. Conclusion: 19p13.12 microdeletion syndrome is a rare condition for which only one prenatal and 5 postnatal cases have been reported previously. This case of 19p13.12 microdeletion syndrome is the first case to be reported in Oman as well as in the Gulf Cooperation Council countries (GCC) and in the Middle East and North Africa (MENA).

Keywords:   Comparative genomic hybridization, 19p13.12 deletion, dysmorphism


© Copyright: Author(s)

A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman


Authors
Musallam Said Al-Araimi
Clinical Geneticist, MD,PhD, Head of The Genetic Counselling & Education Department, The National Genetics Center, Royal Hospital Muscat, Oman
PubMed articlesGoogle scholar articles

Aliya Mahmood Al-Hosni
Senior Laboratory Scientist, PhD, Molecular Genetics, The National Genetics Center, Royal Hospital Muscat, Oman
PubMed articlesGoogle scholar articles

Ali Ahmed Al-Yahmadi
Laboratory Technician, BSc, Molecular Cyto-Genetics, The National Genetics Center, Royal Hospital Muscat, Oman
PubMed articlesGoogle scholar articles

Salma Mohammed Al-Harasi
Head of Genetic Lab, PhD, Molecular Cyto-Genetics, The National Genetics Center, Royal Hospital Muscat, Oman
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Correspondence to:
. Musallam Said Al-Araimi, Clinical Geneticist, MD, PhD, Head of The Genetic Counselling & Education Department; musallam95@yahoo.com

Publication history
Published online 01 Jan 1970
Received 23 Jul 2018
Revised 05 Aug 2018
Accepted 19 Aug 2018
Published in print 09 Mar 2019

How to cite this article

Pubmed Style

Al-Araimi MS, Al-Hosni AM, Al-Yahmadi AA, Al-Harasi SM. A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman. JBCGenetics. 2018; 1(2): 93-97. doi:10.24911/JBCGenetics/183-1532358706


Web Style

Al-Araimi MS, Al-Hosni AM, Al-Yahmadi AA, Al-Harasi SM. A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman. https://www.jbcgenetics.com//?mno=2293 [Access: December 08, 2021]. doi:10.24911/JBCGenetics/183-1532358706


AMA (American Medical Association) Style

Al-Araimi MS, Al-Hosni AM, Al-Yahmadi AA, Al-Harasi SM. A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman. JBCGenetics. 2018; 1(2): 93-97. doi:10.24911/JBCGenetics/183-1532358706


Vancouver/ICMJE Style

Al-Araimi MS, Al-Hosni AM, Al-Yahmadi AA, Al-Harasi SM. A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman. JBCGenetics. (2018), [cited December 08, 2021]; 1(2): 93-97. doi:10.24911/JBCGenetics/183-1532358706


Harvard Style

Al-Araimi, M. S., Al-Hosni, . A. M., Al-Yahmadi, . A. A. & Al-Harasi, . S. M. (2018) A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman. JBCGenetics, 1 (2), 93-97. doi:10.24911/JBCGenetics/183-1532358706


Turabian Style

Al-Araimi, Musallam Said, Aliya Mahmood Al-Hosni, Ali Ahmed Al-Yahmadi, and Salma Mohammed Al-Harasi. 2018. A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman. Journal of Biochemical and Clinical Genetics, 1 (2), 93-97. doi:10.24911/JBCGenetics/183-1532358706


Chicago Style

Al-Araimi, Musallam Said, Aliya Mahmood Al-Hosni, Ali Ahmed Al-Yahmadi, and Salma Mohammed Al-Harasi. "A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman." Journal of Biochemical and Clinical Genetics 1 (2018), 93-97. doi:10.24911/JBCGenetics/183-1532358706


MLA (The Modern Language Association) Style

Al-Araimi, Musallam Said, Aliya Mahmood Al-Hosni, Ali Ahmed Al-Yahmadi, and Salma Mohammed Al-Harasi. "A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman." Journal of Biochemical and Clinical Genetics 1.2 (2018), 93-97. Print. doi:10.24911/JBCGenetics/183-1532358706


APA (American Psychological Association) Style

Al-Araimi, M. S., Al-Hosni, . A. M., Al-Yahmadi, . A. A. & Al-Harasi, . S. M. (2018) A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman. Journal of Biochemical and Clinical Genetics, 1 (2), 93-97. doi:10.24911/JBCGenetics/183-1532358706


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