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

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Duran-Gonzalez J., Gutierrez-Angulo M., Garcia-Cruz D., Ayala M. L., Padilla M., Davalos I. P.
Journal of Applied Genetics
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2007
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vol. 48
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issue 4
405-407
EN
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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