[Clinical importance of chromosomal translocations (author's transl)].
5835 chromosomal analyses were performed between May 1, 1962 and December 31, 1978. We found 68 translocations (1.1%). 36 translocation carriers were identified as being chromosomally balanced, of whom 24 were healthy and 12 clinically abnormal (5 showed centric fusions - 3 x D/D, 2 x D/G - and 7 other chromosomal rearrangements). 32 translocation carriers were chromosomally non-balanced, among them 28 patients with centric fusions (12 x G/G, 2 x D/D, 14 x D/G) and 4 with other rearrangements combined with characteristic clinical features. A review of the chromosomal translocations found in our laboratory is presented. The relation between clinical appearance and chromosomal rearrangement is discussed.
D000368:Aged; D000649:Amniocentesis; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D010375:Pedigree; D013285:Strabismus / Q000235:genetics; D014178:Translocation, Genetic
Klinische Bedeutung chromosomaler Translokationen.