Literature DB >> 2577470

Parental origin of the extra chromosome in trisomy 18.

K G Kupke1, U Müller.   

Abstract

The parental origin of the supernumerary chromosome 18 was investigated by RFLP analysis in 23 individuals with Edwards syndrome. All families were studied with the DNA probe pERT-25, which recognizes a locus of highly polymorphic tandemly repeated DNA sequences on chromosome 18. The extra chromosome was found to be of maternal origin in 19 patients (95%), of paternal origin in one patient (5%), and indeterminate in three patients. In one of the three indeterminate cases, a mosaic, an apparent recombination event had taken place within the pERT-25 locus. The overall high degree of informativeness of pERT-25 illustrates the power of a chromosome-specific variable-number tandem repeat probe (VNTR) in parental origin studies of aneuploidy.

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Year:  1989        PMID： 2577470      PMCID： PMC1683505     

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


  24 in total

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Authors:  T Linné
Journal:  Acta Paediatr Scand       Date:  1979-07

2.  Twelve loci form a continuous linkage map for human chromosome 18.

Authors:  P O'Connell; G M Lathrop; M Leppert; Y Nakamura; U Müller; J M Lalouel; R White
Journal:  Genomics       Date:  1988-11       Impact factor: 5.736

3.  Origin of nondisjunction in trisomy 21 syndrome: all studies compiled, parental age analysis, and international comparisons.

Authors:  R C Juberg; P N Mowrey
Journal:  Am J Med Genet       Date:  1983-09

4.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

5.  Rates of chromosome abnormalities at different maternal ages.

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

Review 6.  Trisomy in man.

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

7.  Incidence of chromosome aberrations among 11148 newborn children.

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

8.  Origin of extra chromosome in Patau syndrome.

Authors:  S Ishikiriyama; N Niikawa
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  Decreasing mosaicism in Down's syndrome.

Authors:  M G Wilson; J W Towner; I Forsman
Journal:  Clin Genet       Date:  1980-05       Impact factor: 4.438

10.  Clinical experience with trisomies 18 and 13.

Authors:  M E Hodes; J Cole; C G Palmer; T Reed
Journal:  J Med Genet       Date:  1978-02       Impact factor: 6.318
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  20 in total

1.  Molecular studies of non-disjunction in trisomy 16.

Authors:  T J Hassold; D Pettay; S B Freeman; M Grantham; N Takaesu
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

2.  Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization.

Authors:  U Müller; N R Schneider; J F Marks; K G Kupke; G N Wilson
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132

3.  Frequency and distribution of aneuploidy in human female gametes.

Authors:  F Pellestor
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

4.  The parental origin of the extra X chromosome in 47,XXX females.

Authors:  K M May; P A Jacobs; M Lee; S Ratcliffe; A Robinson; J Nielsen; T J Hassold
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

5.  The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

Authors:  M J Mascari; W Gottlieb; P K Rogan; M G Butler; D A Waller; J A Armour; A J Jeffreys; R L Ladda; R D Nicholls
Journal:  N Engl J Med       Date:  1992-06-11       Impact factor: 91.245

6.  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

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

Authors:  M M Nöthen; T Eggermann; J Erdmann; B Eiben; D Hofmann; P Propping; G Schwanitz
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

8.  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

Review 9.  Molecular studies of trisomy 18.

Authors:  J M Fisher; J F Harvey; R H Lindenbaum; P A Boyd; P A Jacobs
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

10.  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
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