Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism.
We describe a patient with manifestations of the mosaic trisomy 8 syndrome and mosaicism for a minute marker chromosome. Fluorescence in situ hybridization (FISH) with a chromosome 8 probe confirmed that the marker was derived from chromosome 8. This is the smallest piece of chromosome 8 to be reported in a patient with mosaic trisomy 8 syndrome. When the clinical picture is strongly suggestive of trisomy for a specific chromosome region, we believe that FISH can be used to test markers in a guided, rather than random, fashion.
Spinner
N B
NB
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104, USA.
Grace
K R
KR
Owens
N L
NL
Sovinsky
L
L
Pellegrino
J E
JE
McDonald-McGinn
D
D
Zackai
E
E
D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D014314:Trisomy
D005819:Genetic Markers