Karyotype analysis of 858 children with abnormal growth and development in Hainan area
海南地区858例生长发育异常儿童的染色体核型分析

摘要

目的 了解海南地区生长发育异常儿童的染色体核型分布，结合不同的临床表现，探讨染色体核型对儿童生长发育的影响。方法 选取送检海南金域医学检验中心有限公司2020年1月至2023年12月的0-16岁生长发育异常患儿为研究对象，对其外周血标本G显带进行核型分析。结果 筛选出858例发育异常儿童，染色体异常126例，异常核型检出率为14.69%。染色体多态性100例，占异常核型的79.37%。常染色体异常有16例，占异常核型的12.70%；性染色体异常8例，占异常核型的6.35%；性染色体与常染色体同时异常2例，占异常核型1.59%。结论 海南地区发育异常的儿童染色体异常核型以染色体多态性为主，临床表型中以性发育异常、身材矮小和发育迟缓为主，可见发育异常对儿童的生长具有重要的影响，应及时关注儿童的生长状态并进行就诊。

Abstract

Objective To understand the chromosome karyotype distribution of children with abnormal growth and development in Hainan, and to explore the influence of chromosome karyotype on children’s growth and development in combination with different clinical manifestations.
Methods The children aged 0-16 with abnormal growth and development from January 2020 to December 2023 in Hainan Jinyu Medical Inspection Center Co., Ltd. were taken as the research object, and the G banding of their peripheral blood samples was analyzed.
Results 858 children with developmental abnormalities were screened out, including 126 cases with chromosomal abnormalities, and the detection rate of abnormal karyotype was 14.69%. There were 100 cases of chromosome polymorphism, accounting for 79.37% of abnormal karyotype. There were 16 cases of autosomal abnormality, accounting for 12.70% of the abnormal karyotype; There were 8 cases of sex chromosome abnormality, accounting for 6.35% of abnormal karyotype; The sex chromosome and autosome were abnormal at the same time in 2 cases, accounting for 1.59% of the abnormal karyotype.
Conclusion   Chromosome polymorphism is the main karyotype of children with dysplasia in Hainan, and sexual dysplasia, short stature and stunting are the main clinical phenotypes. It can be seen that dysplasia has an important impact on children's growth, so we should pay attention to children's growth status and see a doctor in time.