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Literature DB >> 3733079

Tentative assignment of piebald trait gene to chromosome band 4q12.

Abstract

A case of de novo del(4)(q12q21.1) is presented. Three of four patients with comparable deletion show abnormal integumentary pigmentation, which is compatible with the known autosomal dominantly inherited piebald trait. Further analysis of breakpoints of five cases with proximal interstitial 4q deletion suggests the possible localization of the piebald trait gene within the band 4q12.

Entities: Disease Species

Mesh：

Year: 1986 PMID： 3733079 DOI： 10.1007/bf00401233

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

6 in total

1. Piebald trait in a retarded child with interstitial deletion of chromosome 4.

Authors: Y Lacassie; T F Thurmon; M C Tracy; M Z Pelias
Journal: Am J Hum Genet Date: 1977-11 Impact factor: 11.025

2. The child with congenital anomalies and interstitial deletion of the long arm of chromosome 4.

Authors: H Lech; J Kubalska; L Wisńiewski
Journal: Klin Padiatr Date: 1982-03 Impact factor: 1.349

3. Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

Authors: S J Funderburk; B F Crandall
Journal: Am J Hum Genet Date: 1974-11 Impact factor: 11.025

4. Partial monosomy of long arm of chromosome 4 due to interstitial deletion.

Authors: A McDermott; R Cain; R Howell
Journal: Hum Genet Date: 1980 Impact factor: 4.132

5. Deletions of different segments of the long arm of chromosome 4.

Authors: J A Mitchell; S Packman; W D Loughman; R M Fineman; E Zackai; S R Patil; B Emanual; J A Bartley; J W Hanson
Journal: Am J Med Genet Date: 1981

6. Possible localization of Gc-System on chromosome 4. Loss of long arm 4 material associated with father-child incompatibility within the Gc-System.

Authors: M Mikkelsen; P Jacobsen; K Henningsen
Journal: Hum Hered Date: 1977 Impact factor: 0.444

6 in total

11 in total

1. Deletion of the c-kit protooncogene in the human developmental defect piebald trait.

Authors: R A Fleischman; D L Saltman; V Stastny; S Zneimer
Journal: Proc Natl Acad Sci U S A Date: 1991-12-01 Impact factor: 11.205

2. 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

3. A new interstitial deletion of 4q (q21.1::q22.1).

Authors: K Fagan; A Gill
Journal: J Med Genet Date: 1989-10 Impact factor: 6.318

Review 4. Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

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

Review 5. 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

6. 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

Review 7. Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.

Authors: A Slavotinek; H Kingston
Journal: J Med Genet Date: 1997-10 Impact factor: 6.318

8. 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

9. Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.

Authors: R A Fleischman
Journal: J Clin Invest Date: 1992-06 Impact factor: 14.808

10. 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