Abstract
Chromosomal abnormalities represent the largest category of causes of death in humans. Abortuses that have reached a 2-week stage of development are estimated to have a 78 % rate of chromosomal abnormalities; however, this rate declines to 62 % for abortions occurring after the first missed menstrual period but before the 20th week. The proportion of fetuses with chromosomal defects drops continuously, with only 6 % of stillborn infants having a chromosome defect. The frequency of major chromosomal abnormalities in spontaneous abortions, the incidence in live-born infants, and the mechanism of chromosomal defects are discussed in this chapter.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Bibliography
Bauld R, Sutherland GR, Bain AD. Chromosome constitution of 500 infants dying during the perinatal period. Humangenetik. 1974;23:183.
Boue J, Boue A. Anomalies chromosomiques dans les avortements spontanes. In: Boue A, Thibault CD, editors. Les Accidents Chromosomiques de la Reproduction. Paris: Incerm; 1973. p. 29.
Boue J, Phillippe E, Giroud A, et al. Phenotypic expression of lethal chromosomal anomalies in human abortuses. Teratology. 1976;14:3.
DeMyer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arrhinencephaly). Pediatrics. 1964;34:256.
Gilbert EF, Opitz JM. Developmental and other pathologic changes in syndromes caused by chromosomal abnormalities. Perspect Pediatr Pathol. 1982;7:1–64.
Gilbert EF, Arya S, Laxova R, et al. Pathology of chromosome abnormalities in the fetus; pathologic markers. In: Gilbert EF, Opitz JM, editors. Genetic aspects of developmental pathology, Birth defects: original article series, vol. 23. New York: Alan R. Liss; 1987. p. 293.
Gilbert EF, Opitz JM. Chromosomal abnormalities. In: Stocker T, Dehner L, editors. Pediatric pathology. 2nd ed. Philadelphia: J.B. Lippincott; 2001. p. 81–112.
Gilbert-Barness E. Chromosomal abnormalities. In: Gilbert-Barness E, editor. Potter’s atlas of developmental and infant pathology. Philadelphia: Mosby Year Book, Inc.; 1998.
Gilbert-Barness E, Oligny L. Chromosomal abnormalities. In: Gilbert-Barness E, editor. Potter’s pathology of the fetus, infant and child. 2nd ed. Philadelphia: Elsevier; 2007. p. 213–76.
Machin GA, Crolla JA. Chromosome constitution of 500 infants dying during the perinatal period. Humangenetik. 1974;23:183.
Matsuoka R, Matsuyama S, Yamamoto U, et al. Trisomy 18q: a case report and review on karyotype and phenotype correlations. Hum Genet. 1981;57:78.
Rushton DI, Faed M, Richards S, et al. The fetal manifestations of the 45, XO karyotype. J Obstet Gynaecol Br. 1969;76:266.
Szulman AE, Philippe E, Boue JG, et al. Human triploidy: association with partial hydatidiform moles and nonmolar conceptuses. Hum Pathol. 1981;12:1016.
Warburton D. Having it all. Am J Hum Genet. 2007;81:648–56.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2014 Springer Science+Business Media New York
About this chapter
Cite this chapter
Gilbert-Barness, E., Spicer, D.E., Steffensen, T.S. (2014). Chromosomal Defects. In: Handbook of Pediatric Autopsy Pathology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6711-3_6
Download citation
DOI: https://doi.org/10.1007/978-1-4614-6711-3_6
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-6710-6
Online ISBN: 978-1-4614-6711-3
eBook Packages: MedicineMedicine (R0)