| 张晶.发育异常新生儿G显带染色体核型分析及临床意义[J].安徽医药,待发表. |
| 发育异常新生儿G显带染色体核型分析及临床意义 |
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| 投稿时间：2025-09-08 录用日期：2025-09-26 |
| DOI： |
| 中文关键词: 发育异常 新生儿 G显带 染色体核型 染色体异常 |
| 英文关键词: |
| 基金项目:黑龙江省卫生健康委科研课题(20230606010144) |
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| 中文摘要: |
| 目的? 分析发育异常新生儿的G显带染色体核型,并探究其临床意义。方法? 选取2023年6月~2025年6月于我院接生的78例发育异常新生儿,根据新生儿G显带染色体核型分析结果将其分为染色体正常组(31例)和染色体异常组(47例),分析G显带染色体核型分布情况及新生儿的主要临床表现。结果? 染色体异常组的双胎妊娠、早产、男婴、小于胎龄儿占比均高于染色体正常组(P<0.05)；78例发育异常新生儿中,总体染色体核型异常检出率为55.13%,其中,染色体数目异常检出率为14.10%,染色体结构异常检出率为40.43%,染色体多态性变异检出率为27.66%。染色体数目异常核型中,以21-三体综合征最常见,占染色体数目异常20.00%(3/15),临床表现主要为特殊面容、反应低下特征。染色体结构异常核型中,以衍生染色体占比最多,为31.58%(6/19),其临床表现主要为智力障碍、小头畸形特征。染色体多态性变异核型中,以Inv(9)的占比最高,为46.15%(6/13),临床表现主要为发育迟缓、尿道下裂特征。结论? G显带染色体核型分析可明确异常类型,为发育异常新生儿的病因诊断、临床干预及遗传咨询提供重要参考。 |
| 英文摘要: |
| Objective To analyze the G-banded chromosomal karyotypes of neonates with developmental abnormalities and explore their clinical significance. Methods A total of 78 newborns with abnormal development who were delivered in our hospital from June 2023 to June 2025 were selected, and they were divided into the normal chromosome group (31 cases) and the abnormal chromosome group (47 cases) according to the karyotype analysis results of G-banding chromosomes in newborns. The distribution of G-banded chromosomal karyotypes and the main clinical manifestations of the neonates were analyzed. Results The proportions of twin pregnancies, preterm births, male infants and small for gestational age infants in the chromosomal abnormality group were all higher than those in the chromosomal normal group (P<0.05). Among the 78 newborns with developmental abnormalities, the overall detection rate of chromosomal karyotype abnormalities was 55.13%, among which the detection rate of chromosomal number abnormalities was 14.10%, the detection rate of chromosomal structure abnormalities was 40.43%, and the detection rate of chromosomal polymorphism variations was 27.66%. Among the karyotypes of chromosomal number abnormalities, trisomy 21 syndrome is the most common, accounting for 20.00% (3/15) of chromosomal number abnormalities. The main clinical manifestations are distinctive facial features and low response characteristics. Among the karyotypes with chromosomal structural abnormalities, derivative chromosomes accounted for the largest proportion, at 31.58% (6/19), and their clinical manifestations mainly included intellectual disability and microcephaly. Among the polymorphic variant karyotypes of chromosomes, Inv(9) had the highest proportion, accounting for 46.15% (6/13), and the main clinical manifestations were developmental delay and hypospadias. Conclusion G-banded chromosomal karyotype analysis can clarify the types of abnormalities and provide important reference for the etiological diagnosis, clinical intervention, and genetic counseling of neonates with developmental abnormalities. |
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