Distal deletion of chromosome 1q in an adult.
An adult patient with mongoloid appearance, profound retardation and autistic-like behavior was found to have a deletion of the distal bands of chromosome 1q. To our knowledge, this is the oldest patient with distal deletion 1q.
Halal
F
F
Division of Medical Genetics, Montreal Children's Hospital, McGill University, Quebec, Canada.
Vekemans
M
M
Kaplan
P
P
Zeesman
S
S
D000328:Adult; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping