A patient with extreme variation in number and size of small marker chromosomes.
We describe extensive variation in the morphology and number of small marker chromosomes in a young girl whose most significant clinical findings were pulmonic stenosis, neck webbing, proptosis, camptodactyly, and developmental delay. Many of the markers had a ring structure. Some were clearly rod-shaped chromosomes with varying arm ratios and others were so small that we could not determine their structure.
Mascarello
J T
JT
Jones
M C
MC
Chambers
S R
SR
D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002675:Child, Preschool; D002871:Chromosome Banding; D005260:Female; D005819:Genetic Markers; D014644:Genetic Variation; D006801:Humans
D005819:Genetic Markers