Article
[Tetrasomy of the short arm of human chromosome 18: cytogenetics and phenotypic disorders].
TSitologiia i genetika - 1 Jan 2000
Kuleshov N P, Zaletaev D V, Levina L Ia, Dement'eva G M, Arbuzov S P
Abstract excerpt
Two mentally retarded girls with a small metacentric nonsatellite extrachromosome were examined. Probands were found to share many clinical features: asthenic constitution, microcephalia, low-set malformed ears, high arched palate, long fingers and toes, a wide gap between first and second toes,...
Topics
- Abnormalities, Multiple
- Aneuploidy
- Child
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, 16-18
- Female
- Humans
- Intellectual Disability
- Karyotyping
- Lymphocytes
- Phenotype
