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Literature DB >> 8786064

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

Abstract

We have determined the parental origin in eight cases of constitutional trisomy+ 8. In all four cases of spontaneous abortion, the additional chromosome was maternal in origin and there was evidence for nullichiasmate meiosis I occurring in the genesis of this trisomy. In contrast, all four cases of liveborn trisomy 8 appear to have arisen by a mechanism consistent with the post-zygotic mitotic gain of the additional chromosome.

Entities: Disease

Mesh：

Year: 1996 PMID： 8786064 DOI： 10.1007/bf02185754

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

24 in total

1. Dinucleotide repeat polymorphisms at the D8S85, D8S87, and D8S88 loci.

Authors: J L Weber; A E Kwitek; P E May; D Patterson; H Drabkin
Journal: Nucleic Acids Res Date: 1990-07-11 Impact factor: 16.971

2. Trisomy 8: an international study of 70 patients.

Authors: V M Riccardi
Journal: Birth Defects Orig Artic Ser Date: 1977

3. Placental mosaicism and intrauterine survival of trisomies 13 and 18.

Authors: D K Kalousek; I J Barrett; B C McGillivray
Journal: Am J Hum Genet Date: 1989-03 Impact factor: 11.025

4. 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

5. Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age.

Authors: S E Antonarakis; D Avramopoulos; J L Blouin; C C Talbot; A A Schinzel
Journal: Nat Genet Date: 1993-02 Impact factor: 38.330

6. Trisomy 8. Report of a mosaic human male with near-normal phenotype and normal IQ, ascertained through infertility.

Authors: A C Chandley; T B Hargreave; J M Fletcher; M Soos; D Axworthy; W H Price
Journal: Hum Genet Date: 1980 Impact factor: 4.132

7. Human chromosome 8 linkage map based on short tandem repeat polymorphisms: effect of genotyping errors.

Authors: J Tomfohrde; S Wood; M Schertzer; M J Wagner; D E Wells; J Parrish; L A Sadler; S H Blanton; S P Daiger; Z Wang
Journal: Genomics Date: 1992-09 Impact factor: 5.736

8. 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

9. Numerical chromosome aberrations in human neoplasia.

Authors: S Heim; F Mitelman
Journal: Cancer Genet Cytogenet Date: 1986-06

10. Hypothesis: meiotic origin of trisomic neoplasms.

Authors: O A Haas; M Seyger
Journal: Cancer Genet Cytogenet Date: 1993-10-15

5 in total

1. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.

Authors: W P Robinson; I J Barrett; L Bernard; A Telenius; F Bernasconi; R D Wilson; R G Best; P N Howard-Peebles; S Langlois; D K Kalousek
Journal: Am J Hum Genet Date: 1997-04 Impact factor: 11.025

2. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Authors: Laura K Conlin; Brian D Thiel; Carsten G Bonnemann; Livija Medne; Linda M Ernst; Elaine H Zackai; Matthew A Deardorff; Ian D Krantz; Hakon Hakonarson; Nancy B Spinner
Journal: Hum Mol Genet Date: 2010-01-06 Impact factor: 6.150