Article
Trisomy 2p: analysis of unusual phenotypic findings.
American journal of medical genetics - 16 Jan 1995
Lurie I W, Ilyina H G, Gurevich D B, Rumyantseva N V, Naumchik I V, Castellan C, Hoeller A, Schinzel A
Abstract excerpt
We present three probands with partial trisomies 2p21-23 due to ins(4;2)(q21;p21p23) pat, 2p23-pter due to t(2;4)(p23;q35)mat, and 2p21-pter due to t(2;11)(p21;q23.3)mat. More than 50 cases of partial trisomy 2p have been reviewed and some abnormalities, unusual for most other types of structural autosomal imbalance, have been found in patients with inherited forms of 2p trisomy and in their non-karyotyped sibs....
Topics
- Abnormalities, Multiple
- Chromosomes, Human, Pair 2
- Female
- Humans
- Infant
- Karyotyping
- Phenotype
- Trisomy