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A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.
A female infant with peripheral pulmonary artery stenosis, growth retardation, and developmental delay was noticed to have facial features consistent with a diagnosis of Williams syndrome. Chromosome analysis revealed a deletion of the terminal portion of the long arm of chromosome 4 (4q33----qter)....
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| Main Authors: | , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1986
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1049789/ https://ncbi.nlm.nih.gov/pubmed/3783627 |
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