ESAME DELLA CROMATINA SESSUALE X ED Y DI 1034 NATI VIVI CONSECUTIVI PER LA RICERCA DELLE ABERRAZIONI GONOSOMICHE

Translated title of the contribution: Examination of X and Y chromatin pictures in 1034 newborns in a search for chromosome aberrations

M. F. Pantarotto, M. G. Vianello, E. Bonioli, F. Freschi, G. P. Campanella

Research output: Contribution to journalArticle

Abstract

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 contributionExamination of X and Y chromatin pictures in 1034 newborns in a search for chromosome aberrations
Original languageItalian
Pages (from-to)1189-1200
Number of pages12
JournalMinerva Pediatrica
Volume29
Issue number18
Publication statusPublished - 1977

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Pantarotto, M. F., Vianello, M. G., Bonioli, E., Freschi, F., & Campanella, G. P. (1977). ESAME DELLA CROMATINA SESSUALE X ED Y DI 1034 NATI VIVI CONSECUTIVI PER LA RICERCA DELLE ABERRAZIONI GONOSOMICHE. Minerva Pediatrica, 29(18), 1189-1200.