Chromosome analysis on 930 consecutive newborn children using quinacrine fluorescent banding technique

Abstract

Chromosome analysing using quinacrine fluorescence was performed on 930 consecutive newborn infants. The total incidence of major chromosome aberrations including numerical changes of the sex chromosomes, and structural changes of autosomes, was 0.54%. Incidence of XYY (0.4%) and XXY (0.2%) were relatively higher as compared to other studies. About 0.75% of the newborn infants were found to have a variable bright fluorescent band located on the proximal area of the short arm (p11) rather than on the proximal long arm (q11) of chromosome No. 3. Attempts were also made to record the variable fluorescent regions on 7 autosomes and the Y chromosome.

Chromosomal Anomalies in 1,000 Children Referred with Suspected Genetic Disorders

“…These children are suspected of possessing chromosomal ab normalities. There arc a number of studies where chromosomal aberrations have been evaluated using unselected populations com prising consecutively born infants [5][6][7][8][9][10][11][12], With the exception of three surveys [13][14][15], these studies were conducted without using any chromosomal-banding techniques. We used a selected population which was sus pected of carrying possible chromosomal ab normalities.…”

A cytogenetic survey of 14,835 consecutive liveborns

“…In Table 7, the frequencies of sex chromosome abnormalities detected in this survey are presented separately, comparing the two periods together with the data obtained from the seven surveys reviewed by Nielsen and Sillesen (1975) and those summarized from three surveys in the literature in which banding analyses were routinely performed (Lin et al, 1976;Buckton et aL, 1980;Hansteen et al, 1982). The data for sex chromosome abnormalities from two surveys (Nielsen et al, 1982;Bratkowska et al, 1985) are not included in Table 7, since exact numbers of male and female infants were not given in their reports.…”

Trisomy 21 in a child due to paternal nondisjunction as determined by RFA technique

“…In these reports, the origin of the extra chromosome 21 was based on the QFQ (Q-bands by fluorescence using quinacrine as suggested in the supplement (1975) of Paris Conference (1971)) polymorphisms (variations). Employing QFQ has certain limitations since the frequency of QFQ polymorphisms for chromosomes 21 is extremely rare (1-25~; Geralds and Pearson, 1974;Lin et aL, 1976;McKenzie and Lubs, 1975), consequently, the origin of the extra chromosome 21 in Down syndrome can be determined in only a few cases (Mikkelsen et al, 1976).…”