We report on a newborn girl with multiple congenital anomalies, whose G-banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole-chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation.
Trisomy 8p: unusual origin detected by fluorescence in situ hybridization
โ Scribed by Charleen M. Moore; Katrina Barnum; Celia I. Kaye; Kathleen S. Kagan-Hallett; Jan C. Liang
- Book ID
- 104669538
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 441 KB
- Volume
- 89
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
Chromosomal analysis of a neonate with brain and heart abnormalities revealed trisomy for 8p. The mother's karyotype showed 47 chromosomes with one chromosome 8 being represented as two separate chromosomes, an acrocentric 8p and a telocentric 8q. G-banding and silver staining revealed a satellite and nucleolus organizing region (NOR) on the 8p. Centromeric-specific probes to the centromeres of chromosomes 8, 15, 13/21, 22 and the acrocentric chromosomes revealed that only the 8q centromere was of chromosome-8 origin, while the 8p centromere was of chromosome-14 origin.
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