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Trisomy 8p: unusual origin detected by fluorescence in situ hybridization

โœ 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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โœฆ 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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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.