Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion.
An infant with ectrodactyly, glaucoma, cleft palate, congenital heart defect and genital anomalies associated with a 7(q21.2q31.2) deletion is presented. Glaucoma and ectrodactyly in association with a 7q deletion has not been previously reported. We recommend that early ophthalmological assessment is required in infants with such deletions.
Montgomery
T L
TL
Department of Clinical Genetics, Northern Genetics Service, Newcastle Upon Tyne, UK.
Wyllie
J
J
Oley
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005901:Glaucoma / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013576:Syndactyly / Q000235:genetics*