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Literature DB >> 8503446

Molecular studies of trisomy 18.

J M Fisher¹, J F Harvey, R H Lindenbaum, P A Boyd, P A Jacobs.

Abstract

We have determined the parental origin of 50 cases of trisomy 18. In 48 cases the additional chromosome was maternal in origin, and in 2 cases it was paternal in origin. Seven cases, including both those with an additional paternal chromosome, appeared to be the result of postzygotic error. In contrast to the situation in nondisjunction involving chromosomes 21 and X, there was no evidence for nullochiasmate nondisjunction.

Mesh：

Year: 1993 PMID： 8503446 PMCID： PMC1682277

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

33 in total

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Authors: S E Antonarakis; M B Petersen; M G McInnis; P A Adelsberger; A A Schinzel; F Binkert; C Pangalos; O Raoul; S A Slaugenhaupt; M Hafez
Journal: Am J Hum Genet Date: 1992-03 Impact factor: 11.025

10. Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy.

Authors: T Hassold; D Chiu
Journal: Hum Genet Date: 1985 Impact factor: 4.132

12 in total

1. Maternal folate polymorphisms and the etiology of human nondisjunction.

Authors: T J Hassold; L C Burrage; E R Chan; L M Judis; S Schwartz; S J James; P A Jacobs; N S Thomas
Journal: Am J Hum Genet Date: 2001-07-05 Impact factor: 11.025

2. Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population.

Authors: R S James; P A Jacobs
Journal: Hum Genet Date: 1996-03 Impact factor: 4.132

3. Placental transcriptomes in the common aneuploidies reveal critical regions on the trisomic chromosomes and genome-wide effects.

Authors: Katherine Bianco; Matthew Gormley; Jason Farrell; Yan Zhou; Oliver Oliverio; Hannah Tilden; Michael McMaster; Susan J Fisher
Journal: Prenat Diagn Date: 2016-07-25 Impact factor: 3.050

4. Incidence of chromosome 18 disomy in human sperm nuclei as detected by nonisotopic in situ hybridization.

Authors: M Guttenbach; R Schakowski; M Schmid
Journal: Hum Genet Date: 1994-04 Impact factor: 4.132

5. 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

6. A fluorescent in situ hybridization analysis of X chromosome pairing in early human female meiosis.

Authors: Y E Cheng; S M Gartler
Journal: Hum Genet Date: 1994-10 Impact factor: 4.132

7. Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns.

Authors: M V Zaragoza; P A Jacobs; R S James; P Rogan; S Sherman; T Hassold
Journal: Hum Genet Date: 1994-10 Impact factor: 4.132

8. Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction.

Authors: J M Fisher; J F Harvey; N E Morton; P A Jacobs
Journal: Am J Hum Genet Date: 1995-03 Impact factor: 11.025

9. Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.

Authors: W P Robinson; F Binkert; F Bernasconi; I Lorda-Sanchez; E A Werder; A A Schinzel
Journal: Am J Hum Genet Date: 1995-02 Impact factor: 11.025

10. Molecular analysis of the expression of transthyretin in intestine and liver from trisomy 18 fetuses.

Authors: S Loughna; P Bennett; G Moore
Journal: Hum Genet Date: 1995-01 Impact factor: 4.132