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Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).
An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay i...
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| Main Authors: | , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1990
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1017223/ https://ncbi.nlm.nih.gov/pubmed/2231653 |
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