Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
Journal of Genetic Medicine
;
: 115-119, 2018.
Article
in English
| WPRIM
| ID: wpr-719102
ABSTRACT
The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220-kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and obesity at a young age. We have reported a case of distal 16p11.2 deletion syndrome in a preterm infant with unusual facial morphology and congenital heart disease. We suggest using chromosome microarray analysis to detect chromosomal abnormalities in newborns, especially preterm infants with unusual morphologies.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Infant, Premature
/
Chromosome Aberrations
/
Gene Deletion
/
Premature Birth
/
Microarray Analysis
/
Epilepsy
/
Autism Spectrum Disorder
/
Heart Defects, Congenital
/
Intellectual Disability
/
Obesity
Type of study:
Diagnostic study
Limits:
Humans
/
Infant, Newborn
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2018
Type:
Article
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