Case Report
JBCGenetics. 2020; 3(2): 104-107

A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31

Authors: Hale Onder Yilmaz, Kadri Karaer, Orkun Yilmaz.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1592502000

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


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A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31


Authors
Hale Onder Yilmaz
Department of Medical Genetics, Necip Fazýl City Hospital, Kahramanmaras, Turkey
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Kadri Karaer
Department of Medical Genetics, Gaziantep University, Gaziantep, Turkey
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Orkun Yilmaz
Department of Orthopedics and Traumatology, Necip Fazil City Hospital, Kahramanmaras, Turkey
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Correspondence to:
. Hale Onder Yilmaz, Department of Medical Genetics, Necip Fazýl City Hospital, Kahramanmaras, Turkey.; drhaleonder@hotmail.com

Publication history
Received 18 Jun 2020
Revised 06 Jul 2020
Accepted 07 Sep 2020
Published online 22 Sep 2020
Published in print 30 Sep 2020

How to cite this article

Pubmed Style

Yilmaz HO, Karaer K, Yilmaz O. A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. JBCGenetics. 2020; 3(2): 104-107. doi:10.24911/JBCGenetics/183-1592502000


Web Style

Yilmaz HO, Karaer K, Yilmaz O. A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. https://www.jbcgenetics.com//?mno=116442 [Access: January 19, 2021]. doi:10.24911/JBCGenetics/183-1592502000


AMA (American Medical Association) Style

Yilmaz HO, Karaer K, Yilmaz O. A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. JBCGenetics. 2020; 3(2): 104-107. doi:10.24911/JBCGenetics/183-1592502000


Vancouver/ICMJE Style

Yilmaz HO, Karaer K, Yilmaz O. A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. JBCGenetics. (2020), [cited January 19, 2021]; 3(2): 104-107. doi:10.24911/JBCGenetics/183-1592502000


Harvard Style

Yilmaz, H. O., Karaer, . K. & Yilmaz, . O. (2020) A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. JBCGenetics, 3 (2), 104-107. doi:10.24911/JBCGenetics/183-1592502000


Turabian Style

Yilmaz, Hale Onder, Kadri Karaer, and Orkun Yilmaz. 2020. A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. Journal of Biochemical and Clinical Genetics, 3 (2), 104-107. doi:10.24911/JBCGenetics/183-1592502000


Chicago Style

Yilmaz, Hale Onder, Kadri Karaer, and Orkun Yilmaz. "A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31." Journal of Biochemical and Clinical Genetics 3 (2020), 104-107. doi:10.24911/JBCGenetics/183-1592502000


MLA (The Modern Language Association) Style

Yilmaz, Hale Onder, Kadri Karaer, and Orkun Yilmaz. "A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31." Journal of Biochemical and Clinical Genetics 3.2 (2020), 104-107. Print. doi:10.24911/JBCGenetics/183-1592502000


APA (American Psychological Association) Style

Yilmaz, H. O., Karaer, . K. & Yilmaz, . O. (2020) A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31. Journal of Biochemical and Clinical Genetics, 3 (2), 104-107. doi:10.24911/JBCGenetics/183-1592502000


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