Trisomy 18: Studies of the Parent and Cell Division of Origin and the Effect of Aberrant Recombination on Nondisjunction

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1995 Mar 1

PMID 7887421

Citations 24

Authors

J M Fisher

J F Harvey

N E Morton

P A Jacobs

Affiliations

Soon will be listed here.

Abstract

We have studied the mechanism of origin of 63 cases of trisomy 18. In 2 the additional chromosome was paternal in origin, and in the remaining 61 it was maternal in origin. Both paternal cases were attributable to a postzygotic mitotic (PZM) error. Among the 54 maternal cases for which the cell division of error was established, only 16 were attributable to an error at the first meiotic division (mat MI), whereas no fewer than 35 were due to an error at the second meiotic division (mat MII), the remaining 3 being the result of a PZM error involving the maternal chromosome 18. A standard map of chromosome 18 was constructed and compared with the nondisjunctional map. Approximately one-third of the mat MI errors were associated with complete absence of recombination, whereas in the remaining two-thirds and in all the mat MII errors recombination in the nondisjoined chromosomes appeared to be normal. All the maternal errors were associated with an increased maternal age, although this reached significance only for the mat MII category of nondisjunction. Our observations on chromosome 18 are compared with those on other chromosomes for which there are comparable data.

Citing Articles

Chromosomal Abnormalities in Miscarriages and Maternal Age: New Insights from the Study of 7118 Cases.

Pendina A, Krapivin M, Chiryaeva O, Petrova L, Pashkova E, Golubeva A Cells. 2025; 14(1.

PMID: 39791709 PMC: 11720377. DOI: 10.3390/cells14010008.

Analysis of Chromosome Test Results of 24,175 Miscarried Fetuses in Japan from 2000 to 2021.

Takaki H, Kitagawa R, Takano T Cytogenet Genome Res. 2024; 164(5-6):194-201.

PMID: 39447559 PMC: 11825082. DOI: 10.1159/000542086.

The Role of Advanced Parental Age in Reproductive Genetics.

Chu B, Liu Z, Liu Y, Jiang H Reprod Sci. 2023; 30(10):2907-2919.

PMID: 37171772 PMC: 10556127. DOI: 10.1007/s43032-023-01256-2.

Single-cell chromatin accessibility landscape of human umbilical cord blood in trisomy 18 syndrome.

Qiu X, Yu H, Wu H, Hu Z, Zhou J, Lin H Hum Genomics. 2021; 15(1):40.

PMID: 34193281 PMC: 8246660. DOI: 10.1186/s40246-021-00338-z.

Genetic diagnosis in the fetus.

Wojcik M, Reimers R, Poorvu T, Agrawal P J Perinatol. 2020; 40(7):997-1006.

PMID: 32094481 PMC: 7319864. DOI: 10.1038/s41372-020-0627-z.

References

Saiki R, Gelfand D, Stoffel S, Scharf S, Higuchi R, Horn G . Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988; 239(4839):487-91. DOI: 10.1126/science.2448875. View

Hassold T, Jacobs P, Leppert M, Sheldon M . Cytogenetic and molecular studies of trisomy 13. J Med Genet. 1987; 24(12):725-32. PMC: 1050401. DOI: 10.1136/jmg.24.12.725. View

Morton N, Wu D, Jacobs P . Origin of sex chromosome aneuploidy. Ann Hum Genet. 1988; 52(2):85-92. DOI: 10.1111/j.1469-1809.1988.tb01083.x. View

Morton N, Andrews V . MAP, an expert system for multiple pairwise linkage analysis. Ann Hum Genet. 1989; 53(3):263-9. DOI: 10.1111/j.1469-1809.1989.tb01793.x. View

Morton N, Keats B, Jacobs P, Hassold T, Pettay D, Harvey J . A centromere map of the X chromosome from trisomies of maternal origin. Ann Hum Genet. 1990; 54(1):39-47. DOI: 10.1111/j.1469-1809.1990.tb00359.x. View

Dausset J, Cann H, Cohen D, Lathrop M, Lalouel J, White R . Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome. Genomics. 1990; 6(3):575-7. DOI: 10.1016/0888-7543(90)90491-c. View

Petersen M, Economou E, Slaugenhaupt S, Chakravarti A, Antonarakis S . Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. Genomics. 1990; 7(1):136-8. DOI: 10.1016/0888-7543(90)90531-x. View

Morton N, Collins A . Standard maps of chromosome 10. Ann Hum Genet. 1990; 54(3):235-51. DOI: 10.1111/j.1469-1809.1990.tb00381.x. View

Antonarakis S . Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group. N Engl J Med. 1991; 324(13):872-6. DOI: 10.1056/NEJM199103283241302. View

10.

Hassold T, Pettay D, Freeman S, Grantham M, Takaesu N . Molecular studies of non-disjunction in trisomy 16. J Med Genet. 1991; 28(3):159-62. PMC: 1016797. DOI: 10.1136/jmg.28.3.159. View

11.

Hassold T, Sherman S, Pettay D, Page D, Jacobs P . XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am J Hum Genet. 1991; 49(2):253-60. PMC: 1683286. View

12.

Kupke K, Muller U . Parental origin of the extra chromosome in trisomy 18. Am J Hum Genet. 1989; 45(4):599-605. PMC: 1683505. View

13.

Sherman S, Takaesu N, Freeman S, Grantham M, Phillips C, Blackston R . Trisomy 21: association between reduced recombination and nondisjunction. Am J Hum Genet. 1991; 49(3):608-20. PMC: 1683138. View

14.

Morton N . Gene maps and location databases. Ann Hum Genet. 1991; 55(3):235-41. DOI: 10.1111/j.1469-1809.1991.tb00418.x. View

15.

Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P . A second-generation linkage map of the human genome. Nature. 1992; 359(6398):794-801. DOI: 10.1038/359794a0. View

16.

Sherman S, Petersen M, Freeman S, Hersey J, Pettay D, Taft L . Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. Hum Mol Genet. 1994; 3(9):1529-35. DOI: 10.1093/hmg/3.9.1529. View

17.

Straub R, Speer M, Luo Y, Rojas K, Overhauser J, Ott J . A microsatellite genetic linkage map of human chromosome 18. Genomics. 1993; 15(1):48-56. DOI: 10.1006/geno.1993.1008. View

18.

Le Beau M, Overhauser J, Straub R, Silverman G, Gilliam T, Ott J . Report of the first international workshop on human chromosome 18 mapping. Cytogenet Cell Genet. 1993; 63(2):78-96. View

19.

Fisher J, Harvey J, Lindenbaum R, Boyd P, Jacobs P . Molecular studies of trisomy 18. Am J Hum Genet. 1993; 52(6):1139-44. PMC: 1682277. View

20.

Van Kessel A, Straub R, Silverman G, Gerken S, Overhauser J . Report and abstracts of the second international workshop on human chromosome 18 mapping. Doorwerth, the Netherlands, July 19-20, 1993. Cytogenet Cell Genet. 1994; 65(3):142-65. View