M. Ray

TL;DR: Data from a chromosome examination of 14,069 consecutive newborn infants is presented, finding 294 babies with a major chromosome abnormality or distinctive marker chromosomes.

TL;DR: The results of the present study when combined with five other comparable studies, thus comprising a total of 46,150 newborn infants, indicates that the frequency of major chromosome abnormalities is between 1:150 and 1:200 live-born babies.

TL;DR: The results of chromosome studies on 6809 consecutive newborn infants are presented and the majority of these (72.7%) would not have been detected at birth without chromosome studies, an important fact in the context of prenatal diagnosis of chromosome disease and the early ascertainment of high-risk families.

TL;DR: It is interesting that although 14;21 translocations are among the commonest structural chromosome rearrangements in man, there are no previous reports in newborn surveys of a child with 44 chromosomes resulting from the mating of two identical Robertsonian translocation carrier parents.

TL;DR: The modal and mean number of silver-stained NORs observed on D- or G-group chromosomes was similar in both groups and between males and females and the distribution and size of Ag-NORs within an individual was not random and was fairly consistent from cell to cell.