A case report of an autistic girl with an extra bisatellited marker chromosome.
Cytogenetic examination of a 14-year-old severely retarded girl revealed a karyotype of 47 chromosomes with an extra bisatellited chromosome, a translocation between No. 22 and a chromosome in the D group. The girl had presented an early autistic syndrome beginning about 6 months of age during plastering for a congenital luxation of the hips and receding from the age of 5. In addition, she was hyperkinetic with various aggressive and auto-aggressive traits and had atypical minor epileptic fits. Data from child psychiatric examinations at 5 and 14 years are presented. The importance of giving parents information as early as possible about biological causes of mental retardation and mental illness is stressed.
D000293:Adolescent; D000374:Aggression; D001321:Autistic Disorder / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D002904:Chromosomes, Human, 21-22 and Y; D004827:Epilepsy / Q000235:genetics; D005260:Female; D006801:Humans; D006948:Hyperkinesis / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D014178:Translocation, Genetic; D014256:Trichotillomania / Q000235:genetics