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1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction
J Genet Med 2018;15:34-37
Published online June 30, 2018;  https://doi.org/10.5734/JGM.2018.15.1.34
© 2018 Korean Society of Medical Genetics and Genomics.

Yoon Hwa Kim1,2, Ju Seok Yang1, Young Joo Lee1,2, Mi Hye Bae2,3, Kyung Hee Park2,3, Dong Hyung Lee1, Kyung-Hwa Shin2,4,*, and Seung Chul Kim1,2,*

1Department of Obstetrics and Gynecology, Pusan National University School of Medicine, Busan, Korea
2Biomedical Research Institute, Pusan National University Hospital, Busan, Korea
3Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea
4Department of Laboratory Medicine, Pusan National University School of Medicine, Busan, Korea
Seung Chul Kim, M.D., Ph.D. http://orcid.org/0000-0002-8174-9931
Department of Obstetrics and Gynecology, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, 179 Gudeok-ro, Seo-gu, Busan 49241, Korea.
Tel: +82-51-240-7287, Fax: +82-51-248-2384, E-mail: ksch0127@naver.com
Kyung-Hwa Shin, M.D. http://orcid.org/0000-0002-8454-4448
Department of Laboratory Medicine and Biomedical Research Institute, Pusan National University Hospital, 179 Gudeok-ro, Seo-gu, Busan 49241, Korea.
Tel: +82-51-240-7463, Fax: +82-51-240-7413, E-mail: skh2009pnuh@gmail.com
Received April 3, 2018; Revised May 23, 2018; Accepted May 24, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract, and thrombocytopenia absent radius syndrome. We reported a neonate with confirmed intrauterine growth restriction (IUGR), micrognathia, glossoptosis, upper airway obstruction, facial dysmorphism, and eye abnormality at birth as well as developmental delay at the age of 1 year. These clinical manifestations, except for the IUGR and upper airway obstruction, in the neonate indicated a 1q21.1 microdeletion. Here, we report a rare case of a 1q21.1 microdeletion obtained via paternal inheritance in a newborn with upper airway obstruction caused by glossoptosis and tracheal stenosis.
Keywords : Chromosome deletion, 1q21.1 microdeletion syndrome, Microarray analysis.


June 2018, 15 (1)
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