[Improved technique--improved diagnosis. An example from cytogenetics].
The chromosomes of a severely retarded male with extreme kyphoscoliosis and obesity 20 years were reexamined by in situ hybridization of the centromere region. Partial trisomy 18 was revealed.
Gravholt
C H
CH
Cytogenetisk laboratorium, Psykiatrisk Hospital i Arhus.
Friedrich
U K
UK
Nielsen
J
J
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D002503:Centromere / Q000648:ultrastructure; D002887:Chromosomes, Human, Pair 18 / Q000648:ultrastructure; D003582:Cytogenetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization; D014314:Trisomy
Bedre teknik--bedre diagnostik. Et eksempel fra cytogenetikken.