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Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36----qter)).
We report on a new case of a single band duplication of the long arm of chromosome 7, dir dup (7)(q36----qter). The major manifestations are developmental delay (particularly speech), frontal bossing, macrocrania, and constant drooling. When compared with other cases involving a 7q duplication of va...
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| 發表在: | J Med Genet |
|---|---|
| Main Authors: | , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BMJ Publishing Group
1992
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015957/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1583663/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.5.344 |
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