Literature DB >> 7897631

A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.

W el-Rifai1, J Leisti, M Kähkönen, A Pietarinen, M R Altherr, S Knuutila.   

Abstract

We present here a 7 year old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only on high resolution banding was a deletion of 4p16.3 suspected in both the proband and the father. Further studies using simultaneous R banding and FISH, with cosmid probe pc847.351 containing the mildly repetitive fragment 847-EC, confirmed the diagnosis and showed a paternal balanced translocation t(4;8)(p16.3;q24.3).

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Year:  1995        PMID： 7897631      PMCID： PMC1050183          DOI： 10.1136/jmg.32.1.65

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  15 in total

1.  Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries.

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Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

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Journal:  Birth Defects Orig Artic Ser       Date:  1982

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Journal:  Humangenetik       Date:  1965

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Authors:  U Wolf; H Reinwein; R Porsch; R Schröter; H Baitsch
Journal:  Humangenetik       Date:  1965

6.  Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome.

Authors:  K Y Gandelman; L Gibson; M S Meyn; T L Yang-Feng
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

7.  Clinical, cytogenetic and molecular investigations in three patients with Wolf-Hirschhorn syndrome.

Authors:  U Thies; E Back; G Wolff; T Schroeder-Kurth; H D Hager; K Schröder
Journal:  Clin Genet       Date:  1992-10       Impact factor: 4.438

8.  The Wolf-Hirschhorn syndrome in fetuses.

Authors:  G Tachdjian; C Fondacci; S Tapia; Y Huten; P Blot; C Nessmann
Journal:  Clin Genet       Date:  1992-12       Impact factor: 4.438

9.  Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.

Authors:  J F Gusella; R E Tanzi; P I Bader; M C Phelan; R Stevenson; M R Hayden; K J Hofman; A G Faryniarz; K Gibbons
Journal:  Nature       Date:  1985 Nov 7-13       Impact factor: 49.962

10.  Simultaneous detection of high-resolution R-banding and fluorescence in situ hybridization signals after fluorouracil-induced cellular synchronization.

Authors:  M L Larramendy; S J Nylund; E Armstrong; S Knuutila
Journal:  Hereditas       Date:  1993       Impact factor: 3.271
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  1 in total

1.  Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

Authors:  M W Partington; K Fagan; V Soubjaki; G Turner
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318
  1 in total

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