Article
Molecular and cytogenetic investigation of complex tissue-specific duplication and loss of chromosome 21 in a child with a monosomy 21 phenotype.
American journal of medical genetics - 1 Jun 1992
Krasikov N, Takaesu N, Hassold T, Knops J F, Finley W H, Scarbrough P
Abstract excerpt
Several recent molecular studies have suggested that the clinical phenotype of Down syndrome may be due to triplication of 21q22 [McCormick et al., 1989] as initially suggested by Niebuhr [1974], and perhaps just 21q22.2 [Korenberg et al., 1989, 1990; Rahmani et al., 1989]. Recently, we studied a...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 21
- Cytogenetics
- DNA
- Female
- Humans
- Infant
- Monosomy
- Phenotype