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

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.