Article
Ring chromosome 8 associated with microcephaly.
Annales de genetique - 1 Jan 1991
Mingarelli R, Valorani G, Zelante L, Dallapiccola B
Abstract excerpt
A two-year-old mental defective girl with microcephaly and minor dysmorphic features had a 46,XX,r(8) karyotype. Low birth weight, short stature, and mental retardation were common features in the four known patients with r(8).
Topics
- Chromosomes, Human, Pair 8
- Female
- Humans
- Infant
- Intellectual Disability
- Karyotyping
- Microcephaly
- Phenotype
- Ring Chromosomes