Literature DB >> 6448518

[Clinical importance of chromosomal translocations (author's transl)].

H Zierler, A Behmel, W Rosenkranz.   

Abstract

5835 chromosomal analyses were performed between May 1, 1962 and December 31, 1978. We found 68 translocations (1.1%). 36 translocation carriers were identified as being chromosomally balanced, of whom 24 were healthy and 12 clinically abnormal (5 showed centric fusions - 3 x D/D, 2 x D/G - and 7 other chromosomal rearrangements). 32 translocation carriers were chromosomally non-balanced, among them 28 patients with centric fusions (12 x G/G, 2 x D/D, 14 x D/G) and 4 with other rearrangements combined with characteristic clinical features. A review of the chromosomal translocations found in our laboratory is presented. The relation between clinical appearance and chromosomal rearrangement is discussed.

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Year:  1980        PMID: 6448518

Source DB:  PubMed          Journal:  Wien Klin Wochenschr        ISSN: 0043-5325            Impact factor:   1.704


  2 in total

1.  Trisomy 4p and ocular defects.

Authors:  I W Lurie; V A Samochvalov
Journal:  Br J Ophthalmol       Date:  1994-05       Impact factor: 4.638

Review 2.  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

  2 in total

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