Article
Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype.
Annales de genetique - 1 Jan 1998
Van Buggenhout G, De Coen L, Fryns J P
Abstract excerpt
Trisomy 1q is a rare condition frequently reported in association with other chromosomal abnormalities. An adult female patient had partial trisomy of the long arm of chromosome 1 (1q32.3-->qter) and partial monosomy of the short arm of chromosome 8 (8p23-->pter) of de novo origin. Clinical features in adulthood included mental retardation, short stature, long narrow face, brachycephaly, synophrys, small downward...
Topics
- Adult
- Chromosomes, Human, Pair 1
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability
- Karyotyping
- Phenotype
- Trisomy