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Journal of Applied Genetics 48(4), 2007, pp. 405-407

A de novo interstitial 6q deletion in a boy with a split hand malformation

Jorge Duran-Gonzalez, Melva Gutierrez-Angulo, Diana Garcia-Cruz, Ma. de la Luz Ayala, Miguel Padilla, Ingrid P. Davalos

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.

Key words: chromosome 6q, interstitial deletion 6q, split hand.

Correspondence: I.P. Davalos, Division de Genetica, CIBO, IMSS, Sierra Mojada 800, Col. Independencia CP 44340, Guadalajara, Jalisco, Mexico; e-mail:

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