Article
[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases].
Medycyna wieku rozwojowego - 1 Jan 2000
Szczałuba Krzysztof, Obersztyn Ewa, Ziemkiewicz Kamila, Jamsheer Aleksander, Bocian Ewa, Mazurczak Tadeusz
Abstract excerpt
Terminal deletion of the long arm of chromosome 2 belongs to the most common structural aberrations of subtelomeric chromosomal regions. Clinical manifestations of this syndrome comprise: global psychomotor delay, moderate to severe mental retardation with specific facial dysmorphism. In some cases a phenotype similar to Albright's hereditary osteodystrophy (AHO) may also be observed (short stature, obesity,...
Topics
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 2
- Female
- Humans
- Infant
- Male
- Phenotype