Article
Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region.
American journal of medical genetics - 1 Dec 1994
Daumer-Haas C, Schuffenhauer S, Walther J U, Schipper R D, Porstmann T, Korenberg J R
Abstract excerpt
Down syndrome is usually caused by complete trisomy 21. Rarely, it is due to partial trisomy of the segment 21q22. We report on a 33-month-old girl with tetrasomy 21 pter-->q22.1 resulting from an extra chromosome idic(21)(q22.1). She has craniofacial traits typical of Down syndrome, including br...
Topics
- Blotting, Southern
- Child Behavior Disorders
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Chromosome Mapping
- Chromosomes, Human, Pair 21
- Developmental Disabilities
- Down Syndrome
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Infant, Newborn
- Mutation
- Phenotype
- Superoxide Dismutase