Autism associated with marker chromosome.
Six boys who all showed the combination of moderate-severe mental retardation, autistic behavior, and mild-moderate physical stigmatization are described. Muscular hypotonia, epilepsy, and kyphoscoliosis were associated features in several cases, as were extremes of short stature and low weight. A supernumerary chromosome was found in all six cases, and it appears that there may be a separate syndrome associated with partial trisomy of chromosome 15.
Gillberg
C
C
Department of Pediatrics, University of Göteborg, Sweden.
Steffenburg
S
S
Wahlström
J
J
Gillberg
I C
IC
Sjöstedt
A
A
Martinsson
T
T
Liedgren
S
S
Eeg-Olofsson
O
O
D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D004200:Diseases in Twins; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D014314:Trisomy
D005819:Genetic Markers