A boy with developmental delay and a maternally inherited deletion in 15q11q13.
A boy was referred at 8 weeks of age for failure to thrive. Cytogenetic and molecular studies showed that he had a large proximal deletion of the maternally derived chromosome 15q. He did not have Angelman syndrome, but at 2 years of age was severely globally delayed. He died at 2 1/2 years of age.
King
M
M
Children's Hospital, Dublin 1, Ireland.
Hardy
C
C
Asenbauer
B
B
Kilpatrick
M
M
Webb
T
T
D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005183:Failure to Thrive / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree