Genetic Analysis of 17q Terminal Partial Trisomy
ABSTRACT Chromosomal trisomy syndrome is associated with diverse clinical phenotypes, including intellectual disability. Partial trisomy of the distal 17q is a rare anomaly with similar clinical features, including psychomotor and growth deficits, facial dysmorphism, and microcephaly. Here, we descr...
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| Format: | Article |
| Language: | English |
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Wiley
2024-12-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.9611 |
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| author | Huiling Zheng Lin Zheng Zhi Huang Guangping Li Daili Tang Xue Yang Tian Tian |
| author_facet | Huiling Zheng Lin Zheng Zhi Huang Guangping Li Daili Tang Xue Yang Tian Tian |
| author_sort | Huiling Zheng |
| collection | DOAJ |
| description | ABSTRACT Chromosomal trisomy syndrome is associated with diverse clinical phenotypes, including intellectual disability. Partial trisomy of the distal 17q is a rare anomaly with similar clinical features, including psychomotor and growth deficits, facial dysmorphism, and microcephaly. Here, we describe three patients from two unrelated families with terminal trisomy 17q. We performed G‐banding karyotype and chromosomal microarray analyses. The child in Family 1 had a 31.3 Mb mosaic duplication on chromosome 17. Family 2 comprised dizygotic twins with a 263 kb deletion on chromosome 15 and a 9.2 Mb duplication on chromosome 17; however, normal karyotyping results were obtained for both parents. We also analyzed the genetic mechanisms underlying the occurrence of these chromosomal aberrations and summarized the literature describing known genotype–phenotype correlations. Given the rarity of partial trisomy of terminal 17q, these cases will provide new insights into the diagnosis of this condition and genotype–phenotype correlations, which can aid in the detection of such conditions and genetic counseling. |
| format | Article |
| id | doaj-art-2e0c2b0fb31d4660a07a88df670e1f31 |
| institution | OA Journals |
| issn | 2050-0904 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-2e0c2b0fb31d4660a07a88df670e1f312025-08-20T01:57:20ZengWileyClinical Case Reports2050-09042024-12-011212n/an/a10.1002/ccr3.9611Genetic Analysis of 17q Terminal Partial TrisomyHuiling Zheng0Lin Zheng1Zhi Huang2Guangping Li3Daili Tang4Xue Yang5Tian Tian6Department of Eugenic Genetics Guiyang Maternal and Child Health Care Hospital Guiyang Guizhou ChinaDepartment of Eugenic Genetics Guiyang Maternal and Child Health Care Hospital Guiyang Guizhou ChinaDepartment of Eugenic Genetics Guiyang Maternal and Child Health Care Hospital Guiyang Guizhou ChinaDepartment of Eugenic Genetics Guiyang Maternal and Child Health Care Hospital Guiyang Guizhou ChinaDepartment of Eugenic Genetics Guiyang Maternal and Child Health Care Hospital Guiyang Guizhou ChinaDepartment of Eugenic Genetics Guiyang Maternal and Child Health Care Hospital Guiyang Guizhou ChinaDepartment of Eugenic Genetics Guiyang Maternal and Child Health Care Hospital Guiyang Guizhou ChinaABSTRACT Chromosomal trisomy syndrome is associated with diverse clinical phenotypes, including intellectual disability. Partial trisomy of the distal 17q is a rare anomaly with similar clinical features, including psychomotor and growth deficits, facial dysmorphism, and microcephaly. Here, we describe three patients from two unrelated families with terminal trisomy 17q. We performed G‐banding karyotype and chromosomal microarray analyses. The child in Family 1 had a 31.3 Mb mosaic duplication on chromosome 17. Family 2 comprised dizygotic twins with a 263 kb deletion on chromosome 15 and a 9.2 Mb duplication on chromosome 17; however, normal karyotyping results were obtained for both parents. We also analyzed the genetic mechanisms underlying the occurrence of these chromosomal aberrations and summarized the literature describing known genotype–phenotype correlations. Given the rarity of partial trisomy of terminal 17q, these cases will provide new insights into the diagnosis of this condition and genotype–phenotype correlations, which can aid in the detection of such conditions and genetic counseling.https://doi.org/10.1002/ccr3.961117q duplicationcopy number variationde novo mutationkaryotypemosaicism |
| spellingShingle | Huiling Zheng Lin Zheng Zhi Huang Guangping Li Daili Tang Xue Yang Tian Tian Genetic Analysis of 17q Terminal Partial Trisomy Clinical Case Reports 17q duplication copy number variation de novo mutation karyotype mosaicism |
| title | Genetic Analysis of 17q Terminal Partial Trisomy |
| title_full | Genetic Analysis of 17q Terminal Partial Trisomy |
| title_fullStr | Genetic Analysis of 17q Terminal Partial Trisomy |
| title_full_unstemmed | Genetic Analysis of 17q Terminal Partial Trisomy |
| title_short | Genetic Analysis of 17q Terminal Partial Trisomy |
| title_sort | genetic analysis of 17q terminal partial trisomy |
| topic | 17q duplication copy number variation de novo mutation karyotype mosaicism |
| url | https://doi.org/10.1002/ccr3.9611 |
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