Sacral Dysgenesis Associated with Terminal Deletion of Chromosome 7 (q36-qter)
We report on the clinical, cytogenetic, and imaging findings in a patient with a 7q terminal deletion. The 11-year-old girl had mental retardation, microcephaly, a distinctive face, relatively small hands and feet, and sacral dysgenesis. High resolution GTG banding (550-850 bands) showed a 7q termin...
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| Format: | Article |
| Language: | English |
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Elsevier
2008-10-01
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| Series: | Pediatrics and Neonatology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957209600073 |
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| _version_ | 1850230314306109440 |
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| author | Pen-Hua Su Jia-Yuh Chen Suh-Jen Chen Teng-Fu Tsao Yu-Jie Lai |
| author_facet | Pen-Hua Su Jia-Yuh Chen Suh-Jen Chen Teng-Fu Tsao Yu-Jie Lai |
| author_sort | Pen-Hua Su |
| collection | DOAJ |
| description | We report on the clinical, cytogenetic, and imaging findings in a patient with a 7q terminal deletion. The 11-year-old girl had mental retardation, microcephaly, a distinctive face, relatively small hands and feet, and sacral dysgenesis. High resolution GTG banding (550-850 bands) showed a 7q terminal deletion. A detailed evaluation of associated malformations and the overall clinical picture should be taken into account when identifying the underlying diagnosis in cases of sacral dysgenesis with mental retardation. |
| format | Article |
| id | doaj-art-d03a3ea2d2274e1aa1da84f98524b7c1 |
| institution | OA Journals |
| issn | 1875-9572 |
| language | English |
| publishDate | 2008-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj-art-d03a3ea2d2274e1aa1da84f98524b7c12025-08-20T02:03:54ZengElsevierPediatrics and Neonatology1875-95722008-10-0149518919210.1016/S1875-9572(09)60007-3Sacral Dysgenesis Associated with Terminal Deletion of Chromosome 7 (q36-qter)Pen-Hua Su0Jia-Yuh Chen1Suh-Jen Chen2Teng-Fu Tsao3Yu-Jie Lai4Division of Genetics and Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDepartment of Pediatrics, Chung Shan Medical University, Taichung, TaiwanDivision of Genetics and Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDepartment of Diagnostic Radiology, Chung Shan Medical University Hospital, Taichung, TaiwanDivision of Genetics and Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanWe report on the clinical, cytogenetic, and imaging findings in a patient with a 7q terminal deletion. The 11-year-old girl had mental retardation, microcephaly, a distinctive face, relatively small hands and feet, and sacral dysgenesis. High resolution GTG banding (550-850 bands) showed a 7q terminal deletion. A detailed evaluation of associated malformations and the overall clinical picture should be taken into account when identifying the underlying diagnosis in cases of sacral dysgenesis with mental retardation.http://www.sciencedirect.com/science/article/pii/S1875957209600073chromosome 7qdeletionsacral dysgenesis |
| spellingShingle | Pen-Hua Su Jia-Yuh Chen Suh-Jen Chen Teng-Fu Tsao Yu-Jie Lai Sacral Dysgenesis Associated with Terminal Deletion of Chromosome 7 (q36-qter) Pediatrics and Neonatology chromosome 7q deletion sacral dysgenesis |
| title | Sacral Dysgenesis Associated with Terminal Deletion of Chromosome 7 (q36-qter) |
| title_full | Sacral Dysgenesis Associated with Terminal Deletion of Chromosome 7 (q36-qter) |
| title_fullStr | Sacral Dysgenesis Associated with Terminal Deletion of Chromosome 7 (q36-qter) |
| title_full_unstemmed | Sacral Dysgenesis Associated with Terminal Deletion of Chromosome 7 (q36-qter) |
| title_short | Sacral Dysgenesis Associated with Terminal Deletion of Chromosome 7 (q36-qter) |
| title_sort | sacral dysgenesis associated with terminal deletion of chromosome 7 q36 qter |
| topic | chromosome 7q deletion sacral dysgenesis |
| url | http://www.sciencedirect.com/science/article/pii/S1875957209600073 |
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