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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
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.
ISSN: 2190-3883
Appears in Collections:2409 Artículos

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