Article
[Trisomy of the distal 15q region due to familial balanced translocation t(15;16)(q24;p13) and unusual mosaicism in the mother of the proband].
TSitologiia i genetika - 1 Jan 2000
Nazarenko S A, Nazarenko L P, Baranova V A
Abstract excerpt
Clinic-cytogenetic analysis of the patient with distal 15q trisomy is presented. Proband's mother and grandmother are carriers of the balanced translocation t (15; 16) (q24; p13). Phenotypically normal proband's mother has a second cell clone with repaired marker chromosome 15 which participates in the balanced translocation of the main cell line. It is supposed possible to repair translocated human chromosomes...
Topics
- Abnormalities, Multiple
- Adult
- Chromosomes, Human, Pair 15
- Female
- Heterozygote
- Humans
- Infant, Newborn
- Karyotyping
- Mosaicism
- Phenotype
- Translocation, Genetic
