矮小症儿童的细胞及分子遗传学分析

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[关键词]身材矮小；核型分析；微阵列分析；外显子组测序[中图分类号]R729；R394 [文献标志码］A [文章编号] 2096-5532（2025）06-0931-04doi：10.11712/jms.2096-5532.2025.61.196 [开放科学（资源服务）标识码（OSID）][网络出版] https：//link.cnki.net/urlid/37.1517.R.20260108.1551.001；

2026-01-09 09：45：05

Cytogenetic and molecular genetic analysis of children with short statureWANG Fang， SONG Xiaofeng， ZHANG Yuhan， LIANG Siying（Genetic Testing Center，Womenand Children's Hospital，Qingdao University，Qingdao 266034，China）

[Abstract]ObjectiveTo investigate theclinical symptoms and genetic features ofchildren with short stature，and to pro videabasisforclinicaldiagnosisandtreatment.MethodsClinicaldata werecolectedfrom442childrenwithshortstaturewho attended theoutpatientservice，andkaryotypeanalysisandwholeexomesequencing（WES）wereperformedforallchildren.ResultsAmongthe442children withshortstature，there were63boysand379 girls，and74children werefoundtohaveshortstaturerelatedabnormalities.Thekaryotypeanalysisidentified28childrenwithabormalities，withanabnormaldetectionrateof 6.33% ，andthere were 24children with sex chromosomeabnormalities，allof whomwere girls.WESwas performed for94childrenwithnormal karyotype，among whom46hadabnormalities；therewere52childrenintheisolatedshortstaturegroup，among whom 17 （ 32.69% ） had abnormalities，and there were 42 children in the group with concomitant abnormalities，among whom 29 （69.05% ）had abnormalities；there was a significant difference in detection rate between group （ χ2=12.298，P<0.001） . WES identified1Ocopynumbervariationsand44pointmutations，mainlyinvolvingthegenesassociatedwithsyndromicshortstature （withmultisystemabnormalities），endocrine/growth hormone（GH）axis dysfunction，growth plate/skeletal development，and metabolic disorders. The abnormal detection rate of karyotype analysis + WES was 16.74% .ConclusionThere is a relatively highdetectionrateofsexchromosomeabnormalities ingirlswithshortstature，andincaseofshortstaturecomorbid withother abnormalities，WES should be performed to clarify etiology.

[Key words]short stature；karyotyping；microarray analysis；exome sequencing

矮小症是儿童内分泌代谢科与儿童保健科最常见的疾病之一，是指在相似生活环境下，身高在同种族、同年龄、同性别正常儿童平均身高的2个标准差以下或第3百分位以下]。（剩余4648字）