Literature DB >> 8225314

Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome).

M M Nöthen1, T Eggermann, J Erdmann, B Eiben, D Hofmann, P Propping, G Schwanitz.   

Abstract

The parental origin of the extra chromosome in trisomy 18 was traced in 30 informative families using highly polymorphic (CA) repeats mapped on the long arm of chromosome 18. Proband DNA was recovered from slides of chromosome preparations in 28 cases and from paraffin-embedded tissues in two cases. The extra chromosome was found to be of maternal origin in 26 cases (86.7%), and paternal origin in 4 cases (13.3%).

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Year:  1993        PMID： 8225314     DOI： 10.1007/bf01247332

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


  15 in total

1.  Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

Authors:  M B Petersen; A A Schinzel; F Binkert; L Tranebjaerg; M Mikkelsen; F A Collins; E P Economou; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

2.  Dinucleotide repeat polymorphism at the D18S34 locus.

Authors:  J L Weber; P E May
Journal:  Nucleic Acids Res       Date:  1990-06-11       Impact factor: 16.971

3.  Origin of the extra chromosome in trisomy 18. A study on five patients using a restriction fragment length polymorphism.

Authors:  T Kondoh; H Tonoki; T Matsumoto; M Tsukahara; N Niikawa
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

4.  The heteromorphic marker on chromosome 18 using restriction endonuclease AluI.

Authors:  A Babu; R S Verma
Journal:  Am J Hum Genet       Date:  1986-04       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

6.  Rates and survival of individuals with trisomy 13 and 18. Data from a 10-year period in Denmark.

Authors:  H Goldstein; K G Nielsen
Journal:  Clin Genet       Date:  1988-12       Impact factor: 4.438

7.  Rates of chromosome abnormalities at different maternal ages.

Authors:  E B Hook
Journal:  Obstet Gynecol       Date:  1981-09       Impact factor: 7.661

Review 8.  Trisomy in man.

Authors:  T J Hassold; P A Jacobs
Journal:  Annu Rev Genet       Date:  1984       Impact factor: 16.830

9.  Incidence of chromosome aberrations among 11148 newborn children.

Authors:  J Nielsen; I Sillesen
Journal:  Humangenetik       Date:  1975-10-20

10.  Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group.

Authors:  S E Antonarakis
Journal:  N Engl J Med       Date:  1991-03-28       Impact factor: 91.245
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  8 in total

1.  Association between nondisjunction and maternal age in meiosis-II human oocytes.

Authors:  T Dailey; B Dale; J Cohen; S Munné
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

2.  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

3.  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

4.  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

5.  Trisomy of human chromosome 18: molecular studies on parental origin and cell stage of nondisjunction.

Authors:  T Eggermann; M M Nöthen; B Eiben; D Hofmann; K Hinkel; R Fimmers; G Schwanitz
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

6.  The use of foetal ovarian stromal cell culture for cytogenetic diagnosis. Stromal ovarian culture cytogenetic diagnosis.

Authors:  I Roig; I Vanrell; A Ortega; Ll Cabero; J Egozcue; M Garcia
Journal:  Cytotechnology       Date:  2003-01       Impact factor: 2.058

7.  Potential Increased Risk of Trisomy 18 Observed After a Fertilizer Warehouse Fire in Brazos County and TX.

Authors:  Xiaohui Xu; Xiao Zhang; JeongWon Han; Yau Adamu; Bangning Zhang
Journal:  Int J Environ Res Public Health       Date:  2020-04-08       Impact factor: 3.390

8.  Single-Cell Transcriptomics of Cultured Amniotic Fluid Cells Reveals Complex Gene Expression Alterations in Human Fetuses With Trisomy 18.

Authors:  Jing Wang; Zixi Chen; Fei He; Trevor Lee; Wenjie Cai; Wanhua Chen; Nan Miao; Zhiwei Zeng; Ghulam Hussain; Qingwei Yang; Qiwei Guo; Tao Sun
Journal:  Front Cell Dev Biol       Date:  2022-03-22
  8 in total

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