Recently recognized chromosomal defects of clinical importance.
We review those conditions which have recently been recognized to be associated with small, sometimes difficult to detect, chromosomal abnormalities. These include the Prader-Willi syndrome and X-linked mental retardation.
D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D014178:Translocation, Genetic; D014960:X Chromosome