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Title: | A de novo interstitial 6q deletion in a boy with a split hand malformation |
Authors: | Durán González, Jorge Gutiérrez Angulo, Melva García Cruz, Diana Ayala Madrigal, María de la Luz Padilla, Miguel Dávalos, Ingrid P. |
Keywords: | chromosome 6q interstitial deletion 6q split hand |
Issue Date: | 2007 |
Publisher: | Journal of Applied Genetics 48(4), 2007, pp. 405-407 |
Citation: | Durán González, J.; Gutiérrez Angulo, M.; García Cruz, D.; Ayala, M.; Padilla, M.; Dávalos, I. (2007). A de novo interstitial 6q deletion in a boy with a split hand malformation. Journal of Applied Genetics 48: 4. pp. 405-407 |
Series/Report no.: | Journal of Applied Genetics;Vol. 48; Issue 4 DOI;10.1007/BF03195240 |
Abstract: | We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous reports and this patient suggest that 6q21 may contain a gene or genes related either directly or indirectly to limb development. |
URI: | http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/311 |
ISSN: | 2190-3883 |
Appears in Collections: | 2409 Artículos |
Files in This Item:
File | Description | Size | Format | |
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Enlace a_A de novo interstitial 6q deletion.htm | Enlace a publicación | 22.44 kB | HTML | View/Open |
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