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Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).
A mother with a translocation rcp (1;3) (q32;p25) gave birth to a son with duplication of 1q32 leads to qter and deletion of 3p25 leads to pter. At 17 1/2 years of age, the proband was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including h...
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
1981
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| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1048662/ https://ncbi.nlm.nih.gov/pubmed/7253002 |
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