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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., Ma d. l. L. A. M., Padilla M., Davalos I. P.

Journal of Applied Genetics

2007

tom 48

nr 4

405-407

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.

Ograniczanie wyników

1 Journal of Applied Genetics

1 Davalos I. P.

1 Duran-Gonzalez J.

1 Garcia-Cruz D.

1 Gutierrez-Angulo M.

1 Ma d. l. L. A. M.

1 Padilla M.

1 2007

Wyniki wyszukiwania

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