Marker chromosome 21 identified by microdissection and FISH.
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.
Sun
Y
Y
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA.
Rubinstein
J
J
Soukup
S
S
Palmer
C G
CG
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002891:Chromosomes, Human, Pair 21; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008846:Micromanipulation; D016133:Polymerase Chain Reaction
D005819:Genetic Markers