TABLE 4

Recognizable Syndromes Caused by Subtelomeric Abnormalities Detected by FISH Technique

Chromosome SyndromeKey Features
1pter deletionGrowth retardation; mental retardation; seizures; visual problems; large anterior fontanelle; asymmetric and low-set, dysplastic ears; deep-set eyes; depressed nasal bridge; pointed chin; and fifth finger clinodactyly72,73
1p36.3 deletionEbstein anomaly; mental retardation7274
1qter deletionMicrocephaly; growth and mental retardation; corpus callosum abnormalities; cardiac anomalies; hypospadias; characteristic facial features75
22qter deletionDevelopmental delay; hypotonia; absent speech; and normal growth or somatic overgrowth7679