Article
Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.
American journal of medical genetics. Supplement - 1 Jan 1990
Petersen M B, Tranebjaerg L, McCormick M K, Michelsen N, Mikkelsen M, Antonarakis S E
Abstract excerpt
We present 2 patients with dup(21q). Patient MP01 had mild mental retardation, facial findings characteristic of Down syndrome (DS), and a terminal duplication of chromosome 21. His karyotype was 46,XY,dup(21) (q22.1-qter). Patient MP03 had mild mental retardation, minor anomalies not characteris...
Topics
- Adult
- Blotting, Southern
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 21
- Down Syndrome
- Female
- Humans
- Intellectual Disability
- Karyotyping
- Male
- Phenotype