Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.
A deletion of 7q21.2-q22.1 has been found in a patient with split foot and developmental retardation. Molecular analysis using polymerase chain reaction (PCR) showed deletion of three microsatellite markers, D7S527, D7S479 and D7S554, in the patient's paternal chromosome. These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7.
Marinoni
J C
JC
Greenwood Genetic Center, SC 29646, USA.
Stevenson
R E
RE
Evans
J P
JP
Geshuri
D
D
Phelan
M C
MC
Schwartz
C E
CE
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005532:Foot Deformities, Congenital / Q000235:genetics*; D017353:Gene Deletion; D005819:Genetic Markers; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D013576:Syndactyly / Q000235:genetics
D005819:Genetic Markers