A new case of partial trisomy of 17 long arm. Densitometric analysis of aberrations.
Partial trisomy of the long arm of the chromosome 17 was found in a male infant with severe psychomotor retardation and numerous developmental anomalies. Differential staining with GTG, QFQ and CBG methods revealed an excess of genetic material on the short arm of chromosome 14, which was preliminarily identified as the distal part of chromosome 17q. Using an automatic picture analyser, chromosome break points were found in the 17q12 and 14p12 bands. The patient's karyotype was identified as 46,XY,t(14;17) (14qter----14p12:17q12----17qter).
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18; D003720:Densitometry; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics*; D014314:Trisomy