Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier.
Open Access
- 1 March 1994
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (3) , 234-237
- https://doi.org/10.1136/jmg.31.3.234
Abstract
We currently use direct and reverse chromosome painting in prenatal diagnosis. In a family with a subtle 12;16 translocation, adjacent 1 segregation was diagnosed in the first child, a boy, in whom symptoms compatible with partial trisomy 16p and partial monosomy 12q were seen. In the next pregnancy, a chorionic villus biopsy was tested using chromosome painting. Only by supplementing conventional cytogenetic methods with molecular cytogenetic techniques could the true karyotype be unequivocally determined. Reverse painting, using DOP-PCR amplified, flow sorted paternal derivative chromosomes as a DNA library to paint the chorionic villus cells, was especially informative.Keywords
This publication has 9 references indexed in Scilit:
- Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS).Journal of Medical Genetics, 1994
- Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINSClinical Genetics, 1993
- Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literatureAmerican Journal of Medical Genetics, 1992
- The presence of interstitial telomeric sequences in constitutional chromosome abnormalities.1992
- Detection of subtle reciprocal translocations by fluorescence in situ hybridizationClinical Genetics, 1992
- Cytogenetic analysis by chromosome painting using dop‐pcr amplified flow‐sorted chromosomesGenes, Chromosomes and Cancer, 1992
- Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogeneticsHuman Genetics, 1990
- Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.Proceedings of the National Academy of Sciences, 1988
- A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes.Proceedings of the National Academy of Sciences, 1988