Literature DB >> 908558

Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213).

B Dallapiccola, L Santoro, S Trabace, M Ramenghi, P Mastroiacovo, E Gandini.   

Abstract

Report is given of a mentally retarded and dysmorphic patient with a partial monosomy 8q, resulting from a de novo translocation t(4;8)(q13;q213). Oetermination of erythrocyte glutathione reductase (E-GSR) activity in the proposita shows activity in the normal range. Previous evidence for of the assignment of E-GSR locus to the short arm of chromosome 8 is confirmed.

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Year:  1977        PMID： 908558     DOI： 10.1007/bf00527393

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


  16 in total

1.  [Partial deletion of the short arm of chromosome 8].

Authors:  L Taillemite; J Channarond; H Tinel; N Muliez; C H Roux
Journal:  Ann Genet       Date:  1975-12

2.  Gene dose effect: regional mapping of human glutathione reductase on chromosome 8.

Authors:  D L George; U Francke
Journal:  Cytogenet Cell Genet       Date:  1976

3.  Partial trisomy 8 (8q24) and the trisomy-8 syndrome.

Authors:  O Sánchez; J J Yunis
Journal:  Humangenetik       Date:  1974

4.  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

5.  8-Trisomy in the bone marrow. Report of two cases.

Authors:  A De la Chapelle; J Schröder; P Vuopio
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

6.  [Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)].

Authors:  R A Pfeiffer; H G Lenard
Journal:  Klin Padiatr       Date:  1973-05       Impact factor: 1.349

7.  [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

8.  Mapping of the gene for glutathione reductase on chromosome 8.

Authors:  A de la Chapelle; A Icen; P Aula; J Leisti; C Turleau; J de Grouchy
Journal:  Ann Genet       Date:  1976-12

9.  Familial inversion of chromosome No. 8: an affected child and a carrier fetus.

Authors:  A Fujimoto; M G Wilson; J W Towner
Journal:  Humangenetik       Date:  1975

10.  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
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  9 in total

1.  Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21).

Authors:  J P Fryns; N Logghe; M Van Eygen; H Van Der Berghe
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

2.  Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?

Authors:  E M Bühler; U K Bühler; R Christen
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23.

Authors:  C Turleau; F Chavin-Colin; J de Grouchy; P Maroteaux; H Rivera
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  "Microcytogenetics" and Langer-Giedion syndrome.

Authors:  M Frontali; M Ramenghi; S Trabace; B Dallapiccola
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

5.  Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Authors:  María Palomares; Alicia Delicado; Elena Mansilla; María Luisa de Torres; Elena Vallespín; Luis Fernandez; Victor Martinez-Glez; Sixto García-Miñaur; Julián Nevado; Fernando Santos Simarro; Victor L Ruiz-Perez; Sally Ann Lynch; Freddie H Sharkey; Ann-Charlotte Thuresson; Göran Annerén; Elga F Belligni; María Luisa Martínez-Fernández; Eva Bermejo; Beata Nowakowska; Anna Kutkowska-Kazmierczak; Ewa Bocian; Ewa Obersztyn; María Luisa Martínez-Frías; Raoul C M Hennekam; Pablo Lapunzina
Journal:  Am J Hum Genet       Date:  2011-07-28       Impact factor: 11.025

6.  Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.

Authors:  Litu Zhang; Zeynep Tümer; Kjeld Møllgård; Gotthold Barbi; Eva Rossier; Eske Bendsen; Rikke Steensbjerre Møller; Reinhard Ullmann; Jian He; Nickolas Papadopoulos; Niels Tommerup; Lars Allan Larsen
Journal:  Eur J Hum Genet       Date:  2009-01-28       Impact factor: 4.246

7.  Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8.

Authors:  D V Zaletajev; G S Marincheva
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

8.  Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13).

Authors:  Y Fukushima; Y Kuroki; T Izawa
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  Presumptive long arm deletion of chromosome 8: a new syndrome?

Authors:  K Taysi; M J Noetzel; A W Strauss
Journal:  Hum Genet       Date:  1979-09-02       Impact factor: 4.132
  9 in total

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