Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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