Article
A de novo interstitial 6q deletion in a boy with a split hand malformation
Registro en:
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
2190-3883
Autor
Durán González, Jorge
Gutiérrez Angulo, Melva
García Cruz, Diana
Ayala Madrigal, María de la Luz
Padilla, Miguel
Dávalos, Ingrid P.
Institución
Resumen
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. Doctorado en Genética Humana, Instituto de Genética Humana “Enrique Corona Rivera”, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México.
División de Genética, CIBO, IMSS, Sierra Mojada 800, Col. Independencia, CP 44340, Guadalajara, Jalisco, México.
Centro Universitario de los Altos, Universidad de Guadalajara, Guadalajara, Jalisco, México.