Sex chromosome screening of 1034 consecutive newborns at a Genoese maternity hospital is reported. The results are discussed in the light of modern cytogenetic and clinical knowledge. Nine cases of chromosome aberration were detected: 47,XYY (1 case); 46,XY q12+ (3 cases); 45,XY+mat Y,t(Yq12; 13p13) (1 case); 45,XX+mat Y,t (Yq12; 13p12) (1 case); 46,XY/46,XYq12- (1 case); 46,XX/45,XO (2 cases). The frequency of these findings is compared with that observed in the population at large. Stress is laid on the importance of screening on account of its reliability, sensitivity, specificity and marked ability to diagnose aberrations that are uncommon in the population as a whole.
|Translated title of the contribution||Examination of X and Y chromatin pictures in 1034 newborns in a search for chromosome aberrations|
|Number of pages||12|
|Publication status||Published - 1977|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health