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

Musallam Said Al-Araimi; Aliya Mahmood Al-Hosni; Ali Ahmed Al-Yahmadi; Salma Mohammed Al-Harasi

doi:10.24911/JBCGenetics/183-1532358706

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Online Published: 19 Jun 2018

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

doi: 10.24911/JBCGenetics/183-1532358706

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

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

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).

Key words: Comparative genomic hybridization, 19p13.12 deletion, dysmorphism

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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: November 14, 2024]. 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 November 14, 2024]; 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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