Deletion of 7q22 and ectrodactyly.
We report the case of an infant with 3-limb ectrodactyly and a deletion of most of 7q22. This observation, along with 4 similar cases from the literature, suggests the presence of a locus affecting limb differentiation in 7q22 near to the proximal interface.
Rivera
H
H
División de Genetica, Centro Médico de Occidente, Guadalajara, Jal.
Sanchez-Corona
J
J
Burgos-Fuentes
V R
VR
Melendez-Ruiz
M J
MJ
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D004480:Ectromelia / Q000175:diagnosis / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014034:Toes / Q000002:abnormalities*