Literature DB >> 2051452

Molecular studies of non-disjunction in trisomy 16.

T J Hassold1, D Pettay, S B Freeman, M Grantham, N Takaesu.   

Abstract

The origin of the additional chromosome in 26 trisomy 16 spontaneous abortions was studied using DNA probes for chromosome 16, including a probe for centromeric alpha sequences. We were able to determine the parent and meiotic stage of origin of trisomy in 22 cases, with all being attributable to maternal meiosis I non-disjunction. Furthermore, in each of the remaining four cases the results were compatible with this origin. Thus, it is likely that the high incidence of trisomy 16 results from an abnormal process acting at maternal meiosis I which more frequently involves chromosome 16 than other similar sized chromosomes. In studies of recombination, we found little evidence for an association between reduced or absent recombination and chromosome 16 non-disjunction; however, we were unable to rule out an effect of hyperrecombination.

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Year:  1991        PMID： 2051452      PMCID： PMC1016797          DOI： 10.1136/jmg.28.3.159

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  15 in total

1.  A centromere map of the X chromosome from trisomies of maternal origin.

Authors:  N E Morton; B J Keats; P A Jacobs; T Hassold; D Pettay; J Harvey; V Andrews
Journal:  Ann Hum Genet       Date:  1990-01       Impact factor: 1.670

2.  Analysis of non-disjunction in human trisomic spontaneous abortions.

Authors:  T J Hassold; N Takaesu
Journal:  Prog Clin Biol Res       Date:  1989

3.  Chromosome-specific alpha satellite DNA from the centromere of human chromosome 16.

Authors:  G M Greig; S B England; H M Bedford; H F Willard
Journal:  Am J Hum Genet       Date:  1989-12       Impact factor: 11.025

4.  Population genetics of the highly polymorphic locus D16S7 and its use in paternity evaluation.

Authors:  J A Chimera; C R Harris; M Litt
Journal:  Am J Hum Genet       Date:  1989-12       Impact factor: 11.025

5.  Parental origin of the extra chromosome in trisomy 18.

Authors:  K G Kupke; U Müller
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

Review 6.  Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

Authors:  K K Kidd; A M Bowcock; J Schmidtke; R K Track; F Ricciuti; G Hutchings; A Bale; P Pearson; H F Willard; J Gelernter
Journal:  Cytogenet Cell Genet       Date:  1989

7.  Gene-centromere mapping and the study of non-disjunction in autosomal trisomies and ovarian teratomas.

Authors:  A Chakravarti; P P Majumder; S A Slaugenhaupt; R Deka; A C Warren; U Surti; R E Ferrell; S E Antonarakis
Journal:  Prog Clin Biol Res       Date:  1989

8.  Report of the committee on linkage and gene order.

Authors:  B Keats; J Ott; M Conneally
Journal:  Cytogenet Cell Genet       Date:  1989

9.  Cytogenetic and molecular analysis of sex-chromosome monosomy.

Authors:  T Hassold; F Benham; M Leppert
Journal:  Am J Hum Genet       Date:  1988-04       Impact factor: 11.025

10.  Maternal age in trisomy.

Authors:  N E Morton; P A Jacobs; T Hassold; D Wu
Journal:  Ann Hum Genet       Date:  1988-07       Impact factor: 1.670
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  19 in total

Review 1.  Meiotic origins of maternal age-related aneuploidy.

Authors:  Teresa Chiang; Richard M Schultz; Michael A Lampson
Journal:  Biol Reprod       Date:  2012-01-10       Impact factor: 4.285

2.  Germline mosaicism does not explain the maternal age effect on trisomy.

Authors:  Ross Rowsey; Anna Kashevarova; Brenda Murdoch; Carrie Dickenson; Tracey Woodruff; Edith Cheng; Patricia Hunt; Terry Hassold
Journal:  Am J Med Genet A       Date:  2013-08-15       Impact factor: 2.802

3.  Cytogenetic Analysis of the Products of Conception After Spontaneous Abortion in the First Trimester.

Authors:  Xueluo Zhang; Junmei Fan; Yanhua Chen; Jun Wang; Zhijiao Song; Jinghui Zhao; Zhongyun Li; Xueqing Wu; Yuanjing Hu
Journal:  Cytogenet Genome Res       Date:  2021-05-11       Impact factor: 1.636

4.  Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin.

Authors:  J Blanco; E Gabau; D Gómez; N Baena; M Guitart; J Egozcue; F Vidal
Journal:  Am J Hum Genet       Date:  1998-10       Impact factor: 11.025

5.  Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Authors:  W P Robinson; A Bottani; Y G Xie; J Balakrishman; F Binkert; M Mächler; A Prader; A Schinzel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

6.  Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16.

Authors:  T Hassold; M Merrill; K Adkins; S Freeman; S Sherman
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

7.  Aneuploidy in human sperm: the use of multicolor FISH to test various theories of nondisjunction.

Authors:  E L Spriggs; A W Rademaker; R H Martin
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025

8.  Nondisjunction of chromosome 15: origin and recombination.

Authors:  W P Robinson; F Bernasconi; A Mutirangura; D H Ledbetter; S Langlois; S Malcolm; M A Morris; A A Schinzel
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

Review 9.  Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms.

Authors:  A O Wilkie
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

10.  Meiotic recombination in human oocytes.

Authors:  Edith Y Cheng; Patricia A Hunt; Theresa A Naluai-Cecchini; Corrine L Fligner; Victor Y Fujimoto; Tanya L Pasternack; Jackie M Schwartz; Jody E Steinauer; Tracey J Woodruff; Sheila M Cherry; Terah A Hansen; Rhea U Vallente; Karl W Broman; Terry J Hassold
Journal:  PLoS Genet       Date:  2009-09-18       Impact factor: 5.917
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