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

• Authors: J. Duran-Gonzalez , M. Gutierrez-Angulo , D. Garcia-Cruz , M.L. Ayala , M. Padilla , I.P. Davalos
• Languages of publication: EN

Abstracts

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.

Keywords

EN

CHROMOSOME 6Q; INTERSTITIAL DELETION 6Q; MALFORMATION; SPLIT HAND

Discipline

• GENETICS: GENETICS

• Journal: Journal of Applied Genetics
• Year: 2007
• Volume: 48
• Issue: 4
• Pages: 405-407

Contributors

author

J. Duran-Gonzalez

author

M. Gutierrez-Angulo

author

D. Garcia-Cruz

author

M.L. Ayala

author

M. Padilla

author

I.P. Davalos

• Document Type: ARTICLE
• Publication order reference: I.P. Davalos, Division de Genetica, CIBO, IMSS, Sierra Mojada 800, Col. Independencia CP 44340, Guadalajara, Jalisco, Mexico