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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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| Publicado no: | J Med Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1990
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017223/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2231653/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.9.588 |
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