A de novo interstitial 6q deletion in a boy with a split hand malformation
Jorge Duran-Gonzalez1, Melva Gutierrez-Angulo, Diana Garcia-Cruz
1División de Genética, Instituto de Genética Humana Enrique Corona Rivera, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada 800, Col. Independencia, Guadalajara, Jalisco, México.
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.
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