Marker chromosome 21 identified by microdissection and FISH
- 27 March 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 56 (2), 151-154
- https://doi.org/10.1002/ajmg.1320560207
Abstract
A child without Down syndrome but with developmental delay, short stature, and autistic behavior was found to be mosaic 46,XX/47,XX,+mar(21) de novo. The marker was a small ring or dot-like chromosome. Microdissection of the marker was performed. The dissected fragments were biotinylated with sequence-independent PCR as a probe pool for fluorescence in situ hybridization (FISH). FISH results suggested an acrocentric origin of the marker. Subsequent FISH with alpha-satellite DNA probes for acrocentric chromosomes, and chromosome-specific 21 and 22 painting probes confirmed its origin from chromosome 21.Keywords
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