Literature DB >> 3236369

Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.

R Dalgleish1, D P Duckett, M Woodhouse, R S Shannon, I D Young.   

Abstract

A three and a half year old mildly retarded boy is presented. Karyotyping showed monosomy 21 (45,XY,-21) in all 50 metaphase spreads examined from two lymphocyte cultures, and in 20% of cells examined from cultured fibroblasts; the remaining 80% of cells showed a ring 21 chromosome (46,XY,r(21)(p1q22]. Molecular studies using chromosome 21 specific DNA probes confirmed the monosomy in blood and showed that the ring 21 chromosome was paternal in origin. Parental karyotypes were normal.

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Year:  1988        PMID： 3236369      PMCID： PMC1051617          DOI： 10.1136/jmg.25.12.851

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion.

Authors:  H H Kazazian; S E Antonarakis; C Wong; S P Trusko; G Stetten; M Oliver; M J Potter; J F Gusella; P C Watkins
Journal:  Ann N Y Acad Sci       Date:  1985       Impact factor: 5.691

2.  Ring 21 chromosome: the mild end of the phenotypic spectrum.

Authors:  R J Gardner; N A Monk; J E Clarkson; G J Allen
Journal:  Clin Genet       Date:  1986-12       Impact factor: 4.438

3.  Hypervariable 'minisatellite' regions in human DNA.

Authors:  A J Jeffreys; V Wilson; S L Thein
Journal:  Nature       Date:  1985 Mar 7-13       Impact factor: 49.962

4.  Identification of 21r and 22r chromosomes by quinacrine fluorescence.

Authors:  B F Crandall; F Weber; H M Muller; J K Burwell
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

5.  Four new cases of ring 21 and 22 including familial transmission of ring 21.

Authors:  C G Palmer; M E Hodes; T Reed; J Kojetin
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

6.  Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy.

Authors:  W Schmid; R Tenconi; C Baccichetti; D Caufin; A Schinzel
Journal:  Am J Med Genet       Date:  1983-11

7.  Isolation of polymorphic DNA segments from human chromosome 21.

Authors:  P C Watkins; R E Tanzi; K T Gibbons; J V Tricoli; G Landes; R Eddy; T B Shows; J F Gusella
Journal:  Nucleic Acids Res       Date:  1985-09-11       Impact factor: 16.971

8.  Length polymorphism in the pro alpha 2(I) collagen gene: an alternative explanation in a case of Marfan syndrome.

Authors:  R Dalgleish; G Williams; J R Hawkins
Journal:  Hum Genet       Date:  1986-05       Impact factor: 4.132

9.  Acute megakaryoblastic leukaemia associated with intrinsic platelet dysfunction and constitution ring 21 chromosome in a young boy.

Authors:  C H Pui; D L Williams; V Scarborough; C W Jackson; R Price; S Murphy
Journal:  Br J Haematol       Date:  1982-02       Impact factor: 6.998
  9 in total
  4 in total

1.  Combined Immunodeficiency with Ring Chromosome 21.

Authors:  Melissa Norman; Brynn Wainstein; Antoinette Anazodo; Anne Turner; Cindy Ma; Kathryn Payne; Stuart G Tangye; Paul Gray
Journal:  J Clin Immunol       Date:  2018-04-15       Impact factor: 8.317

2.  "Compensatory" uniparental disomy of chromosome 21 in two cases.

Authors:  O Bartsch; M B Petersen; I Stuhlmann; G Mau; M Frantzen; E Schwinger; S E Antonarakis; M Mikkelsen
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

3.  Expression of LFA-1 by a lymphoblastoid cell line from a patient with monosomy 21: effects on intercellular adhesion.

Authors:  G M Taylor; D Braddock; A J Robson; W D Fergusson; D P Duckett; S W D'Souza; P Brenchley
Journal:  Clin Exp Immunol       Date:  1990-09       Impact factor: 4.330

4.  Combined immunodeficiency in a patient with mosaic monosomy 21.

Authors:  Erez Rechavi; Sarina Levy-Mendelovich; Tali Stauber; Jana Shamash; Shlomit Reinstein; Helly Vernitsky; Dganit Adam; Amos J Simon; Atar Lev; Annick Raas-Rothschild; Raz Somech
Journal:  Immunol Res       Date:  2016-08       Impact factor: 2.829
  4 in total

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