Marker chromosome 21 identified by microdissection and FISH
Journal Article
·
· American Journal of Medical Genetics
- Indiana Univ. School of Medicine, Indianapolis, IN (United States)
- Univ. Affiliated Cincinnati Center for Developmental Disorders, OH (United States); and others
A child without Down`s 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. 14 refs., 3 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 105264
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 56; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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