Duplication of 19q (13.2-13.31) associated with comitant esotropia: A case report  

作　　者：Yue-Lan Feng Ning-Dong Li 

机构地区：[1]Department of Ophthalmology,National Center for Children's Health,Beijing Children’s Hospital,Capital Medical University,Beijing 100045,China [2]Department of Ophthalmology,First Hospital Affiliated to Baotou Medical College,Baotou 014010,Inner Mongolia Autonomous Region,China

出　　处：《World Journal of Clinical Cases》2021年第20期5526-5534,共9页世界临床病例杂志

摘　　要：BACKGROUND Comitant esotropia is the most common form of strabismus.It is caused by heterogeneous environmental and genetic risk factors.The pure duplication of the long arm of chromosome 19 is a rare abnormality.Only 8 patients with partial trisomy of the long arm of chromosome 19q have been reported to date.Here,we describe a girl with pure duplication of 19q,who was diagnosed with congenital esotropia,microcephaly,and gallbladder agenesis.CASE SUMMARY The patient was diagnosed with esotropia when she was 1-year-old.The Krimsky method showed+50 prism diopters in the primary gaze position.No additional abnormal findings were observed following slit lamp and fundus examination,but the features of the full-field electroretinogram showed a decreased amplitude and increased implicit times.Magnetic resonance imaging showed ventriculomegaly with thinning of the corpus callosum and splenium in her brain.A 4.42 Mb mosaic duplication within 19q13.2-q13.31 region(chr19:39,343,725 to 43,762,586)was detected by microarray comparative genomic hybridization.CONCLUSION Strabismus is reported in many live borns with pure duplication of 19q.This important clinical characteristic indicates that the candidate genes fundamental for this phenotype may be narrowed to genes within the 19q13.3-q13.31 region.There were two candidate genes observed that may contribute to the comitant esotropia phenotype,namely XRCC1(19:43,543,311)and SMG9(19:43,727,991).

关 键 词：DUPLICATION 19q ESOTROPIA STRABISMUS XRCC1 SMG9 Case report 

分 类 号：R777.41[医药卫生—眼科]