Literature DB >> 7372335

Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8p.

J F Mattei, M G Mattei, J P Ardissone, J Coignet, F Giraud.   

Abstract

Three new cases of partial trisomy of the chromosome 8 short arm are reported. The observations confirm and extend certain clinical, enzyme, and chromosomal data in this type of chromosomal anomaly.

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Year:  1980        PMID： 7372335     DOI： 10.1007/bf00287049

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


  11 in total

1.  Two cases of 8p trisomy in one sibship.

Authors:  H A Chiyo; Y Nakagome; I Matsui; Y Kuroki; H Kobayashi
Journal:  Clin Genet       Date:  1975-04       Impact factor: 4.438

2.  [Chromosome 8 : complete trisomy and segmental trisomies].

Authors:  M O Rethoré; A Aurias; J Couturier; B Dutrillaux; M Prieur; J Lejeune
Journal:  Ann Genet       Date:  1977-03

3.  Partial trisomy 8: further observation of a familial C-G translocation chromosome identified by the Q-staining methods.

Authors:  S Yanagisawa
Journal:  J Ment Defic Res       Date:  1973-03

4.  Trisomy of the short arm of chromosome 8: association with translocation between chromosomes 8 and 22 46,XY,22-,t(8p22q) plus.

Authors:  I M Rosenthal; E Krmpotic; M Bocian; K Szego
Journal:  Clin Genet       Date:  1973-06       Impact factor: 4.438

5.  [Study by fluorescence of a trisomy C mosaic, probably 8: 46,XY-47,XY,?8+].

Authors:  J de Grouchy; C Turleau; C Léonard
Journal:  Ann Genet       Date:  1971-03

6.  [On three cases of C trisomy].

Authors:  J Lejeune; B Dutrillaux; M O Rethoré; R Berger; H Debray; P Veron; F Gorce; A Grossiord
Journal:  Ann Genet       Date:  1969-03

7.  [Possible localization of the glutathione reductase (EC 1.6.4.2) on the 8p21 band].

Authors:  P M Sinet; J L Bresson; J Couturier; C Laurent; M Prieur; M O Rethoré; J L Taillemite; D Toudic; H Jérome; J Lejeune
Journal:  Ann Genet       Date:  1977-03

8.  Duplication-deficiency of the short arm of chromosome 8 following artificial insemination.

Authors:  R G Weleber; R S Verma; W J Kimberling; H G Fieger; H A lubs
Journal:  Ann Genet       Date:  1976-12

9.  Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation.

Authors:  K Hongell; S Knuutila; T Westermarck
Journal:  Clin Genet       Date:  1978-02       Impact factor: 4.438

10.  Refined mapping of the gene for glutathione reductase on human chromosome 8.

Authors:  W Gutensohn; A Rodewald; B Haas; P Schulz; H Cleve
Journal:  Hum Genet       Date:  1978-08-31       Impact factor: 4.132
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  8 in total

1.  Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.

Authors:  C M Moore; K Barnum; C I Kaye; K S Kagan-Hallett; J C Liang
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

2.  Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21.

Authors:  J L Blouin; A Aurias; N Créau-Goldberg; F Apiou; C Alcaide-Loridan; A Bruel; M Prieur; J Kraus; J M Delabar; P M Sinet
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

3.  Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.

Authors:  J J Engelen; C E de Die-Smulders; J M Sijstermans; L E Meers; J C Albrechts; A J Hamers
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

Review 4.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

5.  Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale.

Authors:  J Burn; M Baraitser; D T Hughes; P Saldana-Garcia; J F Taylor
Journal:  Pediatr Cardiol       Date:  1984 Jan-Mar       Impact factor: 1.655

6.  Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Authors:  Margaret J Wat; Oleg A Shchelochkov; Ashley M Holder; Amy M Breman; Aditi Dagli; Carlos Bacino; Fernando Scaglia; Roberto T Zori; Sau Wai Cheung; Daryl A Scott; Sung-Hae Lee Kang
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

Review 7.  Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Authors:  A S Plomp; J J Engelen; J C Albrechts; C E de Die-Smulders; A J Hamers
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

8.  D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

Authors:  A Minelli; G Floridia; E Rossi; M Clementi; R Tenconi; L Camurri; F Bernardi; H Hoeller; C Previde Re; P Maraschio
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132
  8 in total

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