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A young adult female with multiple exostoses, short stature, autism, mental retardation and 46,X,t(X;8)(p22.13;q22.1) is described. Although the clinical features and translocation breakpoints raise the possibility of a number of specific conditions, the constellation of problems is not consistent with any previously reported genetic syndrome. It is argued that her clinical disorder is likely due to the chromosomal abnormality and that further detailed molecular genetic investigation may shed light on the genetic basis to various components of her phenotype including the autism.

Type

Journal article

Journal

Psychiatr Genet

Publication Date

1995

Volume

5

Pages

51 - 55

Keywords

Abnormalities, Multiple, Adult, Asphyxia Neonatorum, Autistic Disorder, Chromosome Aberrations, Chromosome Disorders, Chromosomes, Human, Pair 8, Dwarfism, Exostoses, Multiple Hereditary, Female, Hematoma, Subdural, Humans, Infant, Newborn, Intellectual Disability, Obstetric Labor Complications, Phenotype, Pregnancy, Translocation, Genetic, X Chromosome