Literature DB >> 433922

Inversion duplication of chromosome 6 with trisomic codominant expression of HLA antigens.

G Pearson, J D Mann, J Bensen, R W Bull.   

Abstract

Trisomic codominant expression of the HLA antigens was observed in an infant with duplication of a part of 6p occurring as a result of crossing over within a paternally transmitted pericentric inversion. The HLA-A and B loci were linked absolutely with the inversion chromosome in a four generation pedigree.

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Year:  1979        PMID： 433922      PMCID： PMC1685673     

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


  7 in total

1.  A 6p trisomy detected in a family with a "giant satellite".

Authors:  H Chiyo; Y Kuroki; I Matsui; K Yanagida; Y Nakagome
Journal:  Humangenetik       Date:  1975-10-20

2.  A family with a presumptive C-F translocation in five generations.

Authors:  A J Therkelsen; T Klinge; K Henningsen; M Mikkelsen; G Schmidt
Journal:  Ann Genet       Date:  1971-03

3.  Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter).

Authors:  C Trunca; J M Opitz
Journal:  Am J Med Genet       Date:  1977

4.  [Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12].

Authors:  M O Rethoré; C Junien; G Malpuech; C Baccichetti; R Tenconi; J C Kaplan; J de Romeuf; J Lejeune
Journal:  Ann Genet       Date:  1976-06

5.  [Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].

Authors:  M O Rethoré; J C Kaplan; C Junien; J Cruveiller; B Dutrillaux; A Aurias; S Carpentier; J Lafourcade
Journal:  Ann Genet       Date:  1975-06

6.  [Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1].

Authors:  P M Sinet; J Couturier; B Dutrillaux; M Poissonnier; O Raoul; M O Rethore; D Allard; J Lejeune; H Jerome
Journal:  Exp Cell Res       Date:  1976-01       Impact factor: 3.905

7.  Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity.

Authors:  A de la Chapelle; P Vuopio; A Icén
Journal:  Blood       Date:  1976-05       Impact factor: 22.113
  7 in total
  6 in total

1.  Hydatidiform mole: genetic origin in polyploid conceptuses.

Authors:  L O Vejerslev; J Dissing; H E Hansen; H Poulsen
Journal:  Hum Genet       Date:  1987-05       Impact factor: 4.132

2.  Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.

Authors:  P R Scarbrough; A J Carroll; S C Finley; K Hamerick
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318

3.  The phenotype in de novo and familial pericentric inversion 6. A problem in karyotype-phenotype correlation.

Authors:  A Schmidt
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  Orientation of loci within the human major histocompatibility complex by chromosomal in situ hybridization.

Authors:  C C Morton; I R Kirsch; W E Nance; G A Evans; A J Korman; J L Strominger
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

Review 5.  Pericentric inversions. Problems and significance for clinical genetics.

Authors:  P Kaiser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination.

Authors:  Leia A Peterman; Gail H Vance; Erin E Conboy; Katelynn Anderson; David D Weaver
Journal:  Case Rep Genet       Date:  2020-08-31
  6 in total

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