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

• Autorzy: Duran-Gonzalez J , Gutierrez-Angulo M , Garcia-Cruz D , Ma de la Luz Ayala M , Padilla M , Davalos I P
• Języki publikacji: EN

Abstrakty

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.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2007
• Tom: 48
• Numer: 4
• Opis fizyczny: p.405-407,fig.,ref.

Twórcy

autor

Duran-Gonzalez J

• Division de Genetica, CIBO, IMSS, Sierra Mojada 800, Col. Independencia CP 44340, Guadalajara, Jalisco, Mexico
• Doctorado en Genética Humana, Instituto de Genética Humana "Enrique Corona Rivera", Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México

autor

Gutierrez-Angulo M

• Doctorado en Genética Humana, Instituto de Genética Humana "Enrique Corona Rivera", Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México
• Centro Universitario de los Altos, Universidad de Guadalajara, Guadalajara, Jalisco, México

autor

Garcia-Cruz D

• Doctorado en Genética Humana, Instituto de Genética Humana "Enrique Corona Rivera", Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México

autor

Ma de la Luz Ayala M

• Doctorado en Genética Humana, Instituto de Genética Humana "Enrique Corona Rivera", Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México

autor

Padilla M

• Doctorado en Genética Humana, Instituto de Genética Humana "Enrique Corona Rivera", Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México

autor

Davalos I P

• Doctorado en Genética Humana, Instituto de Genética Humana "Enrique Corona Rivera", Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México
• Division de Genetica, CIBO, IMSS, Sierra Mojada 800, Col. Independencia CP 44340, Guadalajara, Jalisco, Mexico

Bibliografia

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