Literature DB >> 2773996

Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait.

Y Yamamoto1, H Nishimoto, S Ikemoto.   

Abstract

Gc-system typing by isoelectric focusing polyacrylamide gel electrophoresis and quantitative assays were carried out on a patient with a karyotype of 46,XY,del(4)(q12q21.1) and on his parents with normal chromosomes. Although a father-child incompatibility within the Gc-system suggested that its locus is on segment 4q12-13, the serum concentration of vitamin D binding protein in the patient and his father were only about half of that of his mother and control individuals. The possibility of interference of a silent allele in the child could not be excluded. Associated congenital partial leukodermia appeared to be an expression of a partial piebald trait.

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Year:  1989        PMID: 2773996     DOI: 10.1002/ajmg.1320320419

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  7 in total

1.  Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.

Authors:  A Schinzel; C P Braegger; L Brecevic; F Dutly; F Binkert
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

Review 2.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 3.  Toward the complete genomic map and molecular pathology of human chromosome 4.

Authors:  O Riess; B Winkelmann; J T Epplen
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

4.  Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

Authors:  L B Giebel; R A Spritz
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

5.  Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

Authors:  R A Spritz; S A Holmes; R Ramesar; J Greenberg; D Curtis; P Beighton
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

6.  Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

Authors:  R A Spritz; L B Giebel; S A Holmes
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

7.  Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene.

Authors:  Nyssa Becker Samanas; Tessa W Commers; Kirsten L Dennison; Quincy Eckert Harenda; Scott G Kurz; Cynthia M Lachel; Kristen Leland Wavrin; Michael Bowler; Isaac J Nijman; Victor Guryev; Edwin Cuppen; Norbert Hubner; Ruth Sullivan; Chad M Vezina; James D Shull
Journal:  PLoS One       Date:  2015-02-18       Impact factor: 3.240

  7 in total

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