Perinatology.  2022 Sep;33(3):166-169. 10.14734/PN.2022.33.3.166.

Proximal 16p11.2 Deletion in a Term Infant with Unilateral Microtia and Aural Atresia: A Case Report

• Kim J
• Kim WD

• KMID: 2533893
• DOI: http://doi.org/10.14734/PN.2022.33.3.166

Abstract

The 16p11.2 deletion phenotype is characterized by developmental delays, intellectual disability and autistic features. In addition, the deletion of 16p11.2 is associated with epilepsy and obesity in childhood. We have reported a case of proximal 16p11.2 deletion syndrome in a term infant with congenital ear anomalies, incomplete syndactyly and patent ductus arteriosus. This case has significance in the early diagnosis of genetic diseases in the neonatal period with multiple congenital anomalies accompanied by uncommon phenotypes such as microtia and aural atresia.

Keyword

Gene deletion; Microarray analysis; Autism spectrum disorder; Congenital microtia