Case Report
Volume: 3 | Issue: 2 | Published: Sep 22, 2020 | Pages: 104 - 107 | DOI: 10.24911/JBCGenetics/183-1592502000
A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31
Authors: Hale Onder Yilmaz , Kadri Karaer , Orkun Yilmaz
Article Info
Authors
Hale Onder Yilmaz
Department of Medical Genetics, Necip Fazıl City Hospital, Kahramanmaras, Turkey
Kadri Karaer
Department of Medical Genetics, Gaziantep University, Gaziantep, Turkey
Orkun Yilmaz
Department of Orthopedics and Traumatology, Necip Fazil City Hospital, Kahramanmaras, Turkey
Publication History
Received: June 18, 2020
Revised: July 06, 2020
Accepted: September 07, 2020
Published: September 22, 2020
Abstract
Background: Chromosomal microarray is considered as the first-line diagnostic genetic test in all individuals with intellectual disability (ID) and attention-deficit disorders. In recent years, the use of chromosomal microarrays routinely for this purpose has resulted in the identification of many new microdeletion and microduplication regions connected with these clinical situations, including the 1q21.1 and 14q32.2q32.31 microdeletions. Case Presentation: A 5-year-old male patient came to the clinic because of ID, hyperactivity, growth retardation, and speaking difficulty. We determined strabismus on both the eyes, and he was myopic. He had a high palate, little, and sparse teeth. On the right hand, there was a simian line. Both undescended testes were brought down with surgery. In addition, he had got an inward penis head. He had joint laxity in most of the joints. He had pes planus and talipes valgus. Therefore, we decided to make array-comparative genomic hybridization analysis and the result came 1368.001 kb deletion on 1q21.1 between chr1: 146023922 and 147391923 nucleotides and 992.003 kb deletion on 14q32.2q32.31 between chr14: 100453009 and 101445012 nucleotides according to Human Genome Build 37 (The result was confirmed by a fluorescent in situ hybridization method performed to determine the particular deleted regions). Conclusion: Here, we report the first case presented with ID, hyperactivity, growth retardation, and speaking difficulty with other findings and has a combination of de novo 1q21.1 and 14q32.2q32.31 microdeletions. Although several research groups have reported similar results with similar regions separately, this study is the first of its kind revealing the effects of this combination to clinical outcome.
Keywords: 1q21.1 microdeletion, 14q32.2q32.31 microdeletion, growth retardation
Pubmed Style
Hale Onder Yilmaz, Kadri Karaer, Orkun Yilmaz. A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. JBC Genetics. 2020; 22 (September 2020): 104-107. doi:10.24911/JBCGenetics/183-1592502000
Web Style
Hale Onder Yilmaz, Kadri Karaer, Orkun Yilmaz. A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. https://www.jbcgenetics.com/index.php/articles/2161 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1592502000
AMA (American Medical Association) Style
Hale Onder Yilmaz, Kadri Karaer, Orkun Yilmaz. A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. JBC Genetics. 2020; 22 (September 2020): 104-107. doi:10.24911/JBCGenetics/183-1592502000
Vancouver/ICMJE Style
Hale Onder Yilmaz, Kadri Karaer, Orkun Yilmaz. A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. JBC Genetics. (2020), [cited April 27, 2025]; 22 (September 2020): 104-107. doi:10.24911/JBCGenetics/183-1592502000
Harvard Style
Hale Onder Yilmaz, Kadri Karaer, Orkun Yilmaz (2020) A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. JBC Genetics, 22 (September 2020): 104-107. doi:10.24911/JBCGenetics/183-1592502000
Chicago Style
Hale Onder Yilmaz, Kadri Karaer, Orkun Yilmaz. "A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31." 22 (2020), 104-107. doi:10.24911/JBCGenetics/183-1592502000
MLA (The Modern Language Association) Style
Hale Onder Yilmaz, Kadri Karaer, Orkun Yilmaz. "A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31." 22.September 2020 (2020), 104-107. Print. doi:10.24911/JBCGenetics/183-1592502000
APA (American Psychological Association) Style
Hale Onder Yilmaz, Kadri Karaer, Orkun Yilmaz (2020) A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. , 22 (September 2020), 104-107. doi:10.24911/JBCGenetics/183-1592502000