J Genet Med.  2018 Jun;15(1):34-37. 10.5734/JGM.2018.15.1.34.

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

Affiliations
  • 1Department of Obstetrics and Gynecology, Pusan National University School of Medicine, Busan, Korea. ksch0127@naver.com
  • 2Biomedical Research Institute, Pusan National University Hospital, Busan, Korea. skh2009pnuh@gmail.com
  • 3Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea.
  • 4Department of Laboratory Medicine, Pusan National University School of Medicine, Busan, Korea.

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.

Keyword

Chromosome deletion; 1q21.1 microdeletion syndrome; Microarray analysis
Full Text Links
  • JGM
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2020 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr