Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype
Chromosomal abnormality is one of the important causes of dysplasia in children. However, due to regional and ethnic differences, the reported rates of chromosomal abnormalities in patients with dysplasia vary greatly. Moreover, the clinical manifestations in children with rare chromosomal diseases...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
De Gruyter
2022-04-01
|
| Series: | Open Life Sciences |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/biol-2022-0046 |
| _version_ | 1797998126078885888 |
|---|---|
| author | Miao Zong-Yu Chen Shi-Feng Wu Hong Liu Xiao-Yan Shao Hui-Yuan |
| author_facet | Miao Zong-Yu Chen Shi-Feng Wu Hong Liu Xiao-Yan Shao Hui-Yuan |
| author_sort | Miao Zong-Yu |
| collection | DOAJ |
| description | Chromosomal abnormality is one of the important causes of dysplasia in children. However, due to regional and ethnic differences, the reported rates of chromosomal abnormalities in patients with dysplasia vary greatly. Moreover, the clinical manifestations in children with rare chromosomal diseases were heterogeneous. So, we retrospectively analyzed the karyotype results of 436 children with dysplasia and conducted a detailed analysis of rare chromosomal diseases. The results showed that chromosomal abnormalities were present in 181 of 436 cases. Intellectual disability, dysmorphology, congenital malformations, the disorder of sexual development, and short stature were the main five clinical symptoms in children with chromosomal abnormalities. Moreover, 136 cases of Trisomy 21 (Tri21) were detected, of which 130 were standard Tri21, 5 were robertsonian Tri21, and 1 was chimera type. In addition, 16 cases of rare abnormal karyotype, including complex Tri21, complex Turner syndrome, 4p-syndrome, 18q-syndrome, and 5p-syndrome, were also detected. In summary, chromosome abnormality is one of the important causes of dysplasia in children. Furthermore, prenatal screening and diagnosis could play a great significance in preventing dysplasia in children. In addition, the retrospective analysis of rare cases is valuable for clinical diagnosis and risk assessment of recurrence. |
| first_indexed | 2024-04-11T10:43:38Z |
| format | Article |
| id | doaj.art-a70e7ca51fb843f99d2eb75b664611a1 |
| institution | Directory Open Access Journal |
| issn | 2391-5412 |
| language | English |
| last_indexed | 2024-04-11T10:43:38Z |
| publishDate | 2022-04-01 |
| publisher | De Gruyter |
| record_format | Article |
| series | Open Life Sciences |
| spelling | doaj.art-a70e7ca51fb843f99d2eb75b664611a12022-12-22T04:29:08ZengDe GruyterOpen Life Sciences2391-54122022-04-0117141642510.1515/biol-2022-0046Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotypeMiao Zong-Yu0Chen Shi-Feng1Wu Hong2Liu Xiao-Yan3Shao Hui-Yuan4Medical Laboratory, Yantai Yu Huang Ding Hospital, 20#, The East Road of Yu Huang Ding, Zhifu District, Yantai, 264000, Shandong, ChinaMedical Laboratory, Yantai Yu Huang Ding Hospital, 20#, The East Road of Yu Huang Ding, Zhifu District, Yantai, 264000, Shandong, ChinaMedical Laboratory, Yantai Yu Huang Ding Hospital, 20#, The East Road of Yu Huang Ding, Zhifu District, Yantai, 264000, Shandong, ChinaMedical Laboratory, Yantai Yu Huang Ding Hospital, 20#, The East Road of Yu Huang Ding, Zhifu District, Yantai, 264000, Shandong, ChinaMedical Laboratory, Yantai Yu Huang Ding Hospital, 20#, The East Road of Yu Huang Ding, Zhifu District, Yantai, 264000, Shandong, ChinaChromosomal abnormality is one of the important causes of dysplasia in children. However, due to regional and ethnic differences, the reported rates of chromosomal abnormalities in patients with dysplasia vary greatly. Moreover, the clinical manifestations in children with rare chromosomal diseases were heterogeneous. So, we retrospectively analyzed the karyotype results of 436 children with dysplasia and conducted a detailed analysis of rare chromosomal diseases. The results showed that chromosomal abnormalities were present in 181 of 436 cases. Intellectual disability, dysmorphology, congenital malformations, the disorder of sexual development, and short stature were the main five clinical symptoms in children with chromosomal abnormalities. Moreover, 136 cases of Trisomy 21 (Tri21) were detected, of which 130 were standard Tri21, 5 were robertsonian Tri21, and 1 was chimera type. In addition, 16 cases of rare abnormal karyotype, including complex Tri21, complex Turner syndrome, 4p-syndrome, 18q-syndrome, and 5p-syndrome, were also detected. In summary, chromosome abnormality is one of the important causes of dysplasia in children. Furthermore, prenatal screening and diagnosis could play a great significance in preventing dysplasia in children. In addition, the retrospective analysis of rare cases is valuable for clinical diagnosis and risk assessment of recurrence.https://doi.org/10.1515/biol-2022-0046dysplasiatrilogy 214q-syndromemonomer 9p18q-syndrome |
| spellingShingle | Miao Zong-Yu Chen Shi-Feng Wu Hong Liu Xiao-Yan Shao Hui-Yuan Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype Open Life Sciences dysplasia trilogy 21 4q-syndrome monomer 9p 18q-syndrome |
| title | Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype |
| title_full | Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype |
| title_fullStr | Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype |
| title_full_unstemmed | Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype |
| title_short | Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype |
| title_sort | analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype |
| topic | dysplasia trilogy 21 4q-syndrome monomer 9p 18q-syndrome |
| url | https://doi.org/10.1515/biol-2022-0046 |
| work_keys_str_mv | AT miaozongyu analysisofgeneticcharacteristicsof436childrenwithdysplasiaanddetailedanalysisofrarekaryotype AT chenshifeng analysisofgeneticcharacteristicsof436childrenwithdysplasiaanddetailedanalysisofrarekaryotype AT wuhong analysisofgeneticcharacteristicsof436childrenwithdysplasiaanddetailedanalysisofrarekaryotype AT liuxiaoyan analysisofgeneticcharacteristicsof436childrenwithdysplasiaanddetailedanalysisofrarekaryotype AT shaohuiyuan analysisofgeneticcharacteristicsof436childrenwithdysplasiaanddetailedanalysisofrarekaryotype |