Chromosome Abnormalities Found Among 34,910 Newborn Children: Results from a 13-year Incidence Study in Arhus, Denmark

Overview

Journal Hum Genet

Specialty Genetics

Date 1991 May 1

PMID 2037286

Citations 253

Authors

J Nielsen

M Wohlert

Affiliations

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Abstract

As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Arhus over a 13-year period. Klinefelter's syndrome was found in 1 per 576 boys, XYY in 1 per 851 boys, triple-X in 1 per 947 girls and Turner's syndrome in 1 per 1893 girls. Other sex chromosome aberrations were found in 1 per 11,637 children. The total incidence of sex chromosome abnormalities was 1 per 426 children or 2.34 per 1000. The most frequent autosomal abnormalities were that of Down's syndrome with 1 per 592 children, and reciprocal translocations with 1 per 712 children. The total incidence of autosomal abnormalities was 1 per 164 children. Chromosome abnormalities were found in 276 liveborn children and in 19 fetuses, who were aborted after prenatal chromosome examination. The combined incidence of sex chromosomal and autosomal abnormalities was 1 per 118 children or 8.45 per 1000 children.

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References

Nielsen J, Krag-Olsen B . Cell selection in vivo. Follow-up of nine unselected mixoploid children. Hum Genet. 1980; 55(3):357-61. DOI: 10.1007/BF00290218. View

Nielsen J, Sillesen I . Incidence of chromosome aberrations among 11148 newborn children. Humangenetik. 1975; 30(1):1-12. DOI: 10.1007/BF00273626. View

. Children with sex chromosome aneuploidy: follow-up studies. Proceedings of a conference, Ontario, Canada. Birth Defects Orig Artic Ser. 1982; 18(4):1-251. View

. Prospective studies on children with sex chromosome aneuploidy. Birth Defects Orig Artic Ser. 1986; 22(3):1-328. View

Nielsen J, Sorensen A, Sorensen K . Follow-up until age 7 to 11 of 25 unselected children with sex chromosome abnormalities. Birth Defects Orig Artic Ser. 1982; 18(4):61-97. View

Nielsen J, Wohlert M, Eriksen G, Hansen K, Hvidman L, Krag-Olsen B . Chromosome examination of 20,222 newborn children: results from a 7.5-year study in Arhus, Denmark. Birth Defects Orig Artic Ser. 1986; 22(3):209-19. View

Gravholt C, Friedrich U, Nielsen J . Chromosomal mosaicism: a follow-up study of 39 unselected children found at birth. Hum Genet. 1991; 88(1):49-52. DOI: 10.1007/BF00204928. View

Nielsen J, Wohlert M . Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser. 1990; 26(4):209-23. View

Nielsen J . Follow-up of 25 unselected children with sex chromosome abnormalities to age 12. Birth Defects Orig Artic Ser. 1990; 26(4):201-7. View

10.

Nielsen J, Sillesen I, Sorensen A, Sorensen K . Follow-up until age 4 to 8 of 25 unselected children with sex chromosome abnormalities, compared with sibs and controls. Birth Defects Orig Artic Ser. 1979; 15(1):15-73. View

11.

Nielsen J, Wohlert M, Hansen K, Hvidman L, Krag-Olsen B, Moulvad I . Incidence of chromosome abnormalities in newborn children. Comparison between incidences in 1969-1974 and 1980-1982 in the same area. Hum Genet. 1982; 61(2):98-101. DOI: 10.1007/BF00274195. View

12.

Nielsen J . Cell selection in vivo in normal/aneuploid chromosome abnormalities. Hum Genet. 1976; 32(2):203-6. DOI: 10.1007/BF00291505. View

13.

Nielsen J, Krag-Olsen B . Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974. Clin Genet. 1981; 20(1):48-54. DOI: 10.1111/j.1399-0004.1981.tb01806.x. View