Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1).

Journal article

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...

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Authors: Bolton, P; Powell, J; Rutter, M; Buckle, V; Yates, JR

• Publication status: Published
• Journal: Psychiatric genetics
• Volume: 5
• Issue: 2
• Pages: 51-55
• Publication date: 1995-01-01
• DOI: 10.1097/00041444-199522000-00001
• EISSN: 1473-5873
• ISSN: 0955-8829
• Language: English
• Keywords: Obstetric Labor Complications; Abnormalities, Multiple; Exostoses, Multiple Hereditary; Phenotype; Hematoma, Subdural; Chromosomes, Human, Pair 8; Translocation, Genetic; Infant, Newborn; X Chromosome; Pregnancy; Humans; Dwarfism; Chromosome Disorders; Female; Asphyxia Neonatorum; Chromosome Aberrations; Mental Retardation; Autistic Disorder; Adult