1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction
Journal of Genetic Medicine
;
: 34-37, 2018.
Article
in English
| WPRIM
| ID: wpr-715202
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Radius
/
Thrombocytopenia
/
Tracheal Stenosis
/
Wills
/
Cataract
/
Eye Abnormalities
/
Chromosome Aberrations
/
Chromosome Deletion
/
Penetrance
/
Parturition
Limits:
Humans
/
Infant, Newborn
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2018
Type:
Article
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