1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction.
- Author:
Yoon Hwa KIM
1
;
Ju Seok YANG
;
Young Joo LEE
;
Mi Hye BAE
;
Kyung Hee PARK
;
Dong Hyung LEE
;
Kyung Hwa SHIN
;
Seung Chul KIM
Author Information
- Publication Type:Case Report
- Keywords: Chromosome deletion; 1q21.1 microdeletion syndrome; Microarray analysis
- MeSH: Airway Obstruction*; Cataract; Chromosome Aberrations; Chromosome Deletion; Epilepsy; Eye Abnormalities; Fetal Growth Retardation; Glossoptosis; Humans; Infant, Newborn*; Microarray Analysis; Microcephaly; Micrognathism; Parturition; Penetrance; Radius; Thrombocytopenia; Tracheal Stenosis; Wills
- From:Journal of Genetic Medicine 2018;15(1):34-37
- CountryRepublic of Korea
- Language:English
- 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.
