A de novo interstitial 6q deletion in a boy with a split hand malformation.
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.
Duran-Gonzalez
Jorge
J
División de Genética, Instituto de Genética Humana Enrique Corona Rivera, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada 800, Col. Independencia, Guadalajara, Jalisco, México.
Gutierrez-Angulo
Melva
M
Garcia-Cruz
Diana
D
Ayala
Maria de la Luz
Mde L
Padilla
Miguel
M
Davalos
Ingrid P
IP
D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male