以身材矮小为突出表现的环状4号染色体1例报告及文献复习

Short stature as major manifestation in ring chromosome 4 : a case report and literature review

目的探讨环状4号染色体病例的临床表型及发病机制。方法回顾分析1例以身材矮小为主要表现的环状4号染色体患儿的临床资料,并复习相关文献。结果女性患儿,10岁11个月,因身材矮小就诊,有颈蹼、乳头间距大,无明显智力障碍和其他畸形,生长激素分泌正常。染色体核型分析提示为环状4号染色体46,XX,r(4)(p16q35)。结论矮小症患儿需警惕环状染色体可能,染色体核型分析有助于确诊。

Objective To explore the clinical phenotype and pathogenesis of ring chromosome 4.Method The clinical data of a child with short stature as the main manifestation of ring chromosome 4 were retrospectively analyzed,and the related literature was reviewed.Results A girl aged 10 years and 11 months visited for short stature and had webbed neck and widely spaced nipples,no obvious mental retardation and other deformities,and growth hormone was normal.A ring chromosome 4,46,XX,r(4)(p16q35),was found by chromosome karyotype analysis.Conclusion Clinicians need to be vigilant about the possibility of cyclic chromosomes in children with dwarfism,and karyotype analysis helps to confirm the diagnosis.