Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion
Chromosomal abnormality is a significant cause of neurodevelopmental delay and congenital malformation. Only a few cases of chromosome 7 imbalances with both duplication of the distal long arm (7q) and deletion of the distal short arm (7p) have been reported without a systematic analysis of the geno...
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Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1564711/full |
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| author | Rongbo Lin Rongbo Lin Wenhui Zhang Mingwei Huang Yansheng Shen Jianxiang Liao Ping Song Ying Qi Jie He Yuanxiang Xia Jing Duan Yuanzhen Ye Qiuwei Yi Pei Lan Lingyu Kong Zhanqi Hu |
| author_facet | Rongbo Lin Rongbo Lin Wenhui Zhang Mingwei Huang Yansheng Shen Jianxiang Liao Ping Song Ying Qi Jie He Yuanxiang Xia Jing Duan Yuanzhen Ye Qiuwei Yi Pei Lan Lingyu Kong Zhanqi Hu |
| author_sort | Rongbo Lin |
| collection | DOAJ |
| description | Chromosomal abnormality is a significant cause of neurodevelopmental delay and congenital malformation. Only a few cases of chromosome 7 imbalances with both duplication of the distal long arm (7q) and deletion of the distal short arm (7p) have been reported without a systematic analysis of the genotype-phenotype relationship. We identify a new case of chromosome 7 imbalance with dup 7q36.3-qter and del 7pter-p22.3 and thoroughly characterize the chromosomal abnormality in the patient and related family members using a variety of genetic tests. More importantly, similar cases of 7q duplication and 7p deletion arising from parental pericentric inversion are reviewed to clarify the genotype-phenotype correlation of the disease. In summary, in cases of normal prenatal and early postnatal growth, progressive neurodevelopmental delay, intellectual disability, limited speech, and mild facial dysmorphism, the rare combination of duplication and deletion of distal ends of chromosome 7 may be suspected. Parental pericentric chromosomal inversion is likely a genetic contributor to the duplication-deletion imbalance in the offspring despite normal phenotypes in the inversion carrier, so genetic testing and counseling are recommended for better disease management and prevention. |
| format | Article |
| id | doaj-art-1177a551096f442db076ebf9356cfe13 |
| institution | Kabale University |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-1177a551096f442db076ebf9356cfe132025-08-20T03:27:58ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-07-011610.3389/fgene.2025.15647111564711Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversionRongbo Lin0Rongbo Lin1Wenhui Zhang2Mingwei Huang3Yansheng Shen4Jianxiang Liao5Ping Song6Ying Qi7Jie He8Yuanxiang Xia9Jing Duan10Yuanzhen Ye11Qiuwei Yi12Pei Lan13Lingyu Kong14Zhanqi Hu15Department of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Emergency, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Pediatrics, Shenzhen Guangming District People’s Hospital, Shenzhen, ChinaAegicare (Shenzhen) Technology Co., Ltd., Shenzhen, ChinaAegicare (Shenzhen) Technology Co., Ltd., Shenzhen, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Emergency, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Emergency, Shenzhen Children’s Hospital, Shenzhen, ChinaAegicare (Shenzhen) Technology Co., Ltd., Shenzhen, ChinaAegicare (Shenzhen) Technology Co., Ltd., Shenzhen, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Respiratory Medicine, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Neurology, Shenzhen Children’s Hospital, Shenzhen, ChinaDepartment of Pediatrics, Shenzhen Guangming District People’s Hospital, Shenzhen, ChinaChromosomal abnormality is a significant cause of neurodevelopmental delay and congenital malformation. Only a few cases of chromosome 7 imbalances with both duplication of the distal long arm (7q) and deletion of the distal short arm (7p) have been reported without a systematic analysis of the genotype-phenotype relationship. We identify a new case of chromosome 7 imbalance with dup 7q36.3-qter and del 7pter-p22.3 and thoroughly characterize the chromosomal abnormality in the patient and related family members using a variety of genetic tests. More importantly, similar cases of 7q duplication and 7p deletion arising from parental pericentric inversion are reviewed to clarify the genotype-phenotype correlation of the disease. In summary, in cases of normal prenatal and early postnatal growth, progressive neurodevelopmental delay, intellectual disability, limited speech, and mild facial dysmorphism, the rare combination of duplication and deletion of distal ends of chromosome 7 may be suspected. Parental pericentric chromosomal inversion is likely a genetic contributor to the duplication-deletion imbalance in the offspring despite normal phenotypes in the inversion carrier, so genetic testing and counseling are recommended for better disease management and prevention.https://www.frontiersin.org/articles/10.3389/fgene.2025.1564711/fullneurodevelopmental delayfacial dysmorphismchromosome 7 imbalancedup 7q36.3-qterdel 7pter-p22.3parental pericentric inversion |
| spellingShingle | Rongbo Lin Rongbo Lin Wenhui Zhang Mingwei Huang Yansheng Shen Jianxiang Liao Ping Song Ying Qi Jie He Yuanxiang Xia Jing Duan Yuanzhen Ye Qiuwei Yi Pei Lan Lingyu Kong Zhanqi Hu Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion Frontiers in Genetics neurodevelopmental delay facial dysmorphism chromosome 7 imbalance dup 7q36.3-qter del 7pter-p22.3 parental pericentric inversion |
| title | Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion |
| title_full | Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion |
| title_fullStr | Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion |
| title_full_unstemmed | Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion |
| title_short | Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion |
| title_sort | case report a rare chromosomal imbalance with dup 7q36 3 qter and del 7pter p22 3 arising from parental pericentric inversion |
| topic | neurodevelopmental delay facial dysmorphism chromosome 7 imbalance dup 7q36.3-qter del 7pter-p22.3 parental pericentric inversion |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2025.1564711/full |
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