Literature DB >> 939567

Two cases of trisomy 4p with translocation t(4p-,7q+) in several members of one family.

M Andrle, A Erlach, W Killian, A Rett.   

Abstract

Report of a family with 7 cases of balanced translocation t(4p-,7q+), resulting in partial trisomy in 2 children descending from parents being brother and sister. Description of the clinical cases, family history, and cytogenetic findings followed by a short discussion of phenotypical differences of the two probands.

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Mesh：

Year:  1976        PMID： 939567     DOI： 10.1007/bf00281889

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


  6 in total

1.  [Trisomy 4p. Three new observations (author's transl)].

Authors:  F Giraud; J F Mattei; M G Mattei; S Ayme; R Bernard
Journal:  Humangenetik       Date:  1975-11-06

2.  [Trisomy 4p].

Authors:  M O Rethoré; B Dutrillaux; G Giovannelli; A Forabosco; B Dallapiccola; J Lejeune
Journal:  Ann Genet       Date:  1974-06

3.  The 4p-syndrome, with a report of two new cases.

Authors:  J P Fryns; E Eggermont; H Verresen; H Van den Berghe
Journal:  Humangenetik       Date:  1973

4.  The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.

Authors:  M Seabright
Journal:  Chromosoma       Date:  1972       Impact factor: 4.316

5.  [Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father].

Authors:  A Schinzel; W Schmid
Journal:  Humangenetik       Date:  1972

6.  Trisomy 4p14 leads to 4pter with translocation t(4;15)(p14;p12) in the father.

Authors:  H Schröchsnadel; C Feichtinger; C Scheminzky
Journal:  Humangenetik       Date:  1975-10-07
  6 in total
  4 in total

1.  Partial trisomy 4q in two unrelated cases.

Authors:  M Andrle; A Erlach; A Rett
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132

Review 2.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

3.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

Review 4.  Clinical manifestations of trisomy 4p syndrome.

Authors:  S V Patel; H Dagnew; A J Parekh; E Koenig; R A Conte; M J Macera; R S Verma
Journal:  Eur J Pediatr       Date:  1995-06       Impact factor: 3.183
  4 in total

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