YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome
ContributorsNadal, M.; Mila, M.; Pritchard, M.; Mur, A.; Pujals, J.; Blouin, Jean-Louis; Antonarakis, Stylianos; Ballesta, F.; Estivill, X.
Published inHuman genetics, vol. 98, no. 4, p. 460-466
Publication date1996
Abstract
Keywords
- Adult
- Base Sequence
- Child
- Chromosome Mapping
- Chromosomes, Artificial, Yeast
- Chromosomes, Human, Pair 13
- Chromosomes, Human, Pair 21
- DNA Primers
- Down Syndrome/ genetics
- Face/abnormalities
- Female
- Genetic Markers
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Karyotyping
- Male
- Mental Retardation/genetics
- Molecular Sequence Data
- Monosomy
- Phenotype
- Polymerase Chain Reaction
- Tooth Abnormalities/genetics
- Translocation, Genetic
- Trisomy
Affiliation
Citation (ISO format)
NADAL, M. et al. YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome. In: Human genetics, 1996, vol. 98, n° 4, p. 460–466. doi: 10.1007/s004390050240
Main files (1)
Article
Identifiers
- PID : unige:8917
- DOI : 10.1007/s004390050240
- PMID : 8792823
ISSN of the journal0340-6717