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A case of 49,XXXXX in which the extra X chromosomes were maternal in origin
This report describes an 11 month old female baby with features of pentasomy X. A molecular and cytogenetic evaluation revealed that her karyotype was 49,XXXXX and her extra X chromosomes were of maternal origin. She has muscular hypotonia, mental retardation, a cleft palate, mild hydrocephalus as a...
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| Autores principales: | , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Copyright 2004 Journal of Clinical Pathology
2004
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1770429/ https://ncbi.nlm.nih.gov/pubmed/15333671 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jcp.2004.017475 |
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