Article
Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities.
Annales de genetique - 1 Jan 1993
Pfeiffer R A, Schütz C
Abstract excerpt
The authors report a dysmorphic child with a duplication dir (11)(23-ter) the mildly retarded mother of which is a mosaic for the same abnormality. Similar partial trisomies from the literature all associated with a deficiency of any other autosome are reviewed. While a general karyotype-phenotype correlation is not stringent the patients share many dysmorphic features.
Topics
- Adult
- Chromosomes, Human, Pair 11
- Facial Asymmetry
- Family
- Female
- Humans
- Infant
- Intellectual Disability
- Karyotyping
- Male
- Mosaicism
- Phenotype