1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction

• 발행기관: 대한의학유전학회
• 저자명: Yoon Hwa Kim Ju Seok Yang Young Joo Lee Mi Hye Bae Kyung Hee Park Dong Hyung Lee Kyung-Hwa Shin Seung Chul Kim
• 간행물 정보: 『대한의학유전학회지』제15권 제1호, 34~37쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2018.06.30

영문 초록

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.

목차

Introduction

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키워드

Chromosome deletion 1q21.1 microdeletion syndrome Microarray analysis