Article
Old syndromes and new cytogenetics.
Developmental medicine and child neurology - 1 Sept 1990
Punnett H H, Zakai E H
Abstract excerpt
This annotation has been confined to well-established clinical syndromes with recently discovered chromosomal etiologies. It deliberately omits retinoblastoma, the oft-cited paradigm of a contiguous gene syndrome, since it is usually inherited as a Mendelian single gene disorder. However, it was...
Topics
- Abnormalities, Multiple
- Brain Damage, Chronic
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Humans
- Infant
- Neuromuscular Diseases
- Phenotype
