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

• Kim YH
• Yang JS
• Lee YJ
• Bae MH
• Park KH
• Lee DH
• Shin KH
• Kim SC

• KMID: 2435971
• DOI: http://doi.org/10.5734/JGM.2018.15.1.34

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

MeSH Terms

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