Article
[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
Medycyna wieku rozwojowego - 1 Jan 2000
Szczałuba Krzysztof, Obersztyn Ewa, Nowakowska Beata, Bernaciak Joanna, Fisher Christopher, Gibbons Richard, Mazurczak Tadeusz, Bocian Ewa
Abstract excerpt
Alpha-thalassemia/mental retardation syndrome (ATR-X) is a neurodevelopmental disorder with characteristic clinical picture as well as presence of pathognomonic haemoglobin H inclusions (HbH) on peripheral blood examination. Typical features of this condition are: severe intellectual impairment, muscular hypotonia, delay of growth, genitourinary/skeletal abnormalities and characteristic facial dysmorphism....
Topics
- Adult
- Child, Preschool
- Female
- Gene Deletion
- Genetic Counseling
- Genotype
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Male
- X-Linked Intellectual Disability
- Mutation
- Phenotype