A ring D chromosome in association with Down's syndrome-like phenotype
The case of a ten-years-old mentally retarded girl with Down's syndrome-like features whose chromosome analysis revealed an unusual mosaicism including 10% mitosis with a ring chromosome replacing a D chromosome is reported. The clinical features of the patient were considered similar to those...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
1973-03-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1973000100004&lng=en&tlng=en |
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| _version_ | 1850241647236874240 |
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| author | A. Wajntal A. J. Diament P. H. Saldanha |
| author_facet | A. Wajntal A. J. Diament P. H. Saldanha |
| author_sort | A. Wajntal |
| collection | DOAJ |
| description | The case of a ten-years-old mentally retarded girl with Down's syndrome-like features whose chromosome analysis revealed an unusual mosaicism including 10% mitosis with a ring chromosome replacing a D chromosome is reported. The clinical features of the patient were considered similar to those described by Jacobsen (1966) and Emberger et al. (1971) who interpreted the ring chromosome present in their patients as being chromosome 15. |
| format | Article |
| id | doaj-art-bef435d2882f4ea8ab010dd9160d9099 |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 1973-03-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-bef435d2882f4ea8ab010dd9160d90992025-08-20T02:00:33ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42271973-03-01311323710.1590/S0004-282X1973000100004S0004-282X1973000100004A ring D chromosome in association with Down's syndrome-like phenotypeA. Wajntal0A. J. Diament1P. H. Saldanha2Universidade de São PauloUniversidade de São PauloUniversidade de São PauloThe case of a ten-years-old mentally retarded girl with Down's syndrome-like features whose chromosome analysis revealed an unusual mosaicism including 10% mitosis with a ring chromosome replacing a D chromosome is reported. The clinical features of the patient were considered similar to those described by Jacobsen (1966) and Emberger et al. (1971) who interpreted the ring chromosome present in their patients as being chromosome 15.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1973000100004&lng=en&tlng=en |
| spellingShingle | A. Wajntal A. J. Diament P. H. Saldanha A ring D chromosome in association with Down's syndrome-like phenotype Arquivos de Neuro-Psiquiatria |
| title | A ring D chromosome in association with Down's syndrome-like phenotype |
| title_full | A ring D chromosome in association with Down's syndrome-like phenotype |
| title_fullStr | A ring D chromosome in association with Down's syndrome-like phenotype |
| title_full_unstemmed | A ring D chromosome in association with Down's syndrome-like phenotype |
| title_short | A ring D chromosome in association with Down's syndrome-like phenotype |
| title_sort | ring d chromosome in association with down s syndrome like phenotype |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1973000100004&lng=en&tlng=en |
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