작은머리증과 다발성 선천기형을 동반한 염색체 1q44 결실

• Published in: Perinatology (Online) pp. 95 - 99
• Main Authors: 이정은, 정종식, 전가원, 신종범
• Format: Journal Article
• Language: Korean
• Published: 대한주산의학회 30.06.2014
• Subjects: 의학일반
• ISSN: 2508-4887; 2508-4895

1q44 결실 증후군은 1번 염색체 장완 말단 결실의 여러 아형 중 하나로 안면이형증, 작은머리증과 다발성 선천기형을 보이는 드문 유전 질환이다. 작은머리증, 경련, 정신운동지연, 성장지연, 특징적인 안면이형증, 중추신경계 기형, 손발, 심장, 비뇨생식기계 기형 등의 다양한 표현형이 있으나 거의 대부분의 환자가 진행하는 작은머리증과 함께 성장지연, 정신운동지연을 동반하는 유전질환으로 저자들은 국내에서 두 번째 증례를 경험하였기에 문헌고찰과 함께 이를 보고하는 바이다. The 1q terminal deletion syndrome is a rare chromosomal disorder which was first reported by Mankinen et al. in 1976. This disorder has shown to have broad and diverse clinical phenotypes. Specific phenotypes of 1q terminal deletion syndrome include microcephaly, seizures, psychomotor retardation, growth retardation, abnormalities of extremities, corpus callosum, heart and genitalia. Although this disorder has diverse clinical manifestations, almost all cases of 1q44 deletion syndrome have growth, psychomotor, and mental retardation and progressive microcephaly. The first diagnosis of 1q44 deletion syndrome in Korea was made by fluorescent in situ hybridization analysis in a 4-month-old girl with craniofacial anomalies, multiple congenital anomalies, and growth and psychomotor retardation. We report the second domestic case of 1q44 deletion syndrome with cleft palate, facial dysmorphism, single umbilical artery, foot abnormality, progressive microcephaly, growth and psychomotor retardation which was confirmed by microarray for comparative genomic hybridization. We also compare this case with previously reported cases of 1q44 deletion syndrome KCI Citation Count: 0