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http://dx.doi.org/10.5734/JGM.2018.15.1.34

1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction  

Kim, Yoon Hwa (Department of Obstetrics and Gynecology, Pusan National University School of Medicine)
Yang, Ju Seok (Department of Obstetrics and Gynecology, Pusan National University School of Medicine)
Lee, Young Joo (Department of Obstetrics and Gynecology, Pusan National University School of Medicine)
Bae, Mi Hye (Biomedical Research Institute, Pusan National University Hospital)
Park, Kyung Hee (Biomedical Research Institute, Pusan National University Hospital)
Lee, Dong Hyung (Department of Obstetrics and Gynecology, Pusan National University School of Medicine)
Shin, Kyung-Hwa (Biomedical Research Institute, Pusan National University Hospital)
Kim, Seung Chul (Department of Obstetrics and Gynecology, Pusan National University School of Medicine)
Publication Information
Journal of Genetic Medicine / v.15, no.1, 2018 , pp. 34-37 More about this Journal
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;
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