4q27 deletion and 7q36.1 microduplication in a patient with multiple malformations and hearing loss: a case report
作者: Maolan WuXiangrong ZhengXia WangGuoyuan ZhangJian Kuang
作者单位: 1Department of Pediatrics, XiangYa Hospital, Central South University, Changsha, China
刊名: BMC Medical Genomics, 2020, Vol.13 (2), pp.383-385
来源数据库: Springer Nature Journal
DOI: 10.1186/s12920-020-0697-y
关键词: 4q deletion7q duplicationDevelopmental delayMalformationPulmonary dysplasiaHearing disorder
英文摘要: Abstract(#br)Background(#br)Chromosome deletions of the long arm of chromosome 4 in 4q syndrome are characterized by mild facial and digital dysmorphism, developmental delay, growth retardation, and skeletal and cardiac anomalies, which is regarded as an autism spectrum disorder. Moreover, some scarce reports indicate that patients with 4q interstitial deletion and 7p duplication may present symptoms associated with hearing loss. Case presentation(#br)A boy with a severe developmental delay not only post-natal but also intrauterine and several dysmorphic features including microcephaly, ocular hypertelorism, exophthalmos, low-set ears, single palmar flexion crease, and overlapping toes presented discontinued cyanosis and recurrent respiratory infections. MRI, BAEP, echocardiogram and...
全文获取路径: Springer Nature  (合作)
影响因子:3.466 (2012)