Literature DB >> 7927328

Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype.

S M Sirchia1, C De Andreis, S Pariani, M G Grimoldi, A Molinari, M Buscaglia, G Simoni.   

Abstract

We investigated the parental origin of the extra chromosome 14 and of the two chromosomes 14 of the euploid cell line, in a case of fetal mosaicism 46,XX/47,XX+14 diagnosed at amniocentesis. Molecular analysis of five polymorphic loci of the short tandem repeat type was performed. Markers D14S43 and D14S49 showed the presence of maternal uniparental disomy of chromosome 14 in the apparently normal cell line. The distribution of the markers analysed along the chromosome suggests maternal heterodisomy with a large isodisomic segment in the telomeric region, possibly caused by meiotic crossing-over.

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Year:  1994        PMID： 7927328     DOI： 10.1007/bf00201592

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


  24 in total

1.  Uniparental disomy: a novel mechanism for thalassemia major.

Authors:  C Beldjord; I Henry; C Bennani; D Vanhaeke; D Labie
Journal:  Blood       Date:  1992-07-01       Impact factor: 22.113

2.  Dinucleotide repeat polymorphism at the D14S43 locus.

Authors:  V Sharma; L Smith; L Allen; R E Magenis; M Litt
Journal:  Nucleic Acids Res       Date:  1991-04-11       Impact factor: 16.971

3.  Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

Authors:  J C Wang; M B Passage; P H Yen; L J Shapiro; T K Mohandas
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

4.  Continuous linkage map of human chromosome 14 short tandem repeat polymorphisms.

Authors:  Z Wang; J L Weber
Journal:  Genomics       Date:  1992-07       Impact factor: 5.736

5.  Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE.

Authors:  B Budowle; R Chakraborty; A M Giusti; A J Eisenberg; R C Allen
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

6.  Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

Authors:  R Voss; E Ben-Simon; A Avital; S Godfrey; J Zlotogora; J Dagan; Y Tikochinski; J Hillel
Journal:  Am J Hum Genet       Date:  1989-09       Impact factor: 11.025

7.  Maternal uniparental disomy for chromosome 14.

Authors:  I K Temple; A Cockwell; T Hassold; D Pettay; P Jacobs
Journal:  J Med Genet       Date:  1991-08       Impact factor: 6.318

8.  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

9.  A new genetic concept: uniparental disomy and its potential effect, isodisomy.

Authors:  E Engel
Journal:  Am J Med Genet       Date:  1980

10.  Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

Authors:  S E Antonarakis; J L Blouin; J Maher; D Avramopoulos; G Thomas; C C Talbot
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025
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