7号染色体长臂部分缺失1例

A case of partial deletion of the long arm of chromosome 7

7号染色体长臂部分缺失在临床上十分罕见,容易漏诊及误诊。中南大学湘雅二医院收治1名13岁患儿,具有生长发育迟缓、轻度智力异常、指间距缩短、头偏小、内眦赘皮、膝内翻及椎体隐裂等表型,但无唇裂、泌尿生殖道畸形、肌张力低下等严重生理缺陷,临床症状较为轻微,经基因检测确诊为7号染色体长臂部分缺失。该病因生长发育迟缓收入内分泌科较为少见,容易与内分泌科其他疾病混淆,本病例报告可为其临床诊断和与其他生长发育迟缓的疾病的鉴别诊断提供参考。

Partial deletion of the long arm of chromosome 7 is a rare disease and is prone to missing the diagnosis or being misdiagnosed. Here we present a case of a 13-year-old boy that showed symptoms such as growth-retardation, moderate intellectual disability, hypotelorism, microcephaly, epicanthal folds, genu varum and lumbar vertebral cleft, but it did not show serious symptoms like cleft lip, urogenital malformation and hypotonia. He was eventually diagnosed as partial deletion of the long arm of chromosome 7 syndrome through gene analysis. Considering the rare incidence of this disease and more rarely for being hospitalized to endocrine ward due to growth retardation, this case report can provide more information for clinic diagnosis and differential diagnosis for growth retardation.