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KMID : 1189120180150020115
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대한의학유전학회지
2018 Volume.15 No. 2 p.115 ~ p.119
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Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
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Hyun Ju-Kyung
Jung Yu-Jin
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Abstract
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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.
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KEYWORD
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Microarray analysis, Gene deletion, Premature birth
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