Literature DB >> 3612716

Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4.

C McKeown, A P Read, A Dodge, O Stecko, A Mercer, R Harris.   

Abstract

We report a family in which Wolf-Hirschhorn syndrome in two children with partial monosomy of the short arm of chromosome 4 is the result of unbalanced segregation of a reciprocal 4;12 translocation in the mother. Studies with the DNA probe G8 show that the translocation breakpoint in this family is distal to the D4S10 locus. Previously reported cases of Wolf-Hirschhorn syndrome have involved the deletion of D4S10. These observations may prove helpful in the search for better genetic markers for Huntington's chorea, which maps close to D4S10.

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Year:  1987        PMID： 3612716      PMCID： PMC1050148          DOI： 10.1136/jmg.24.7.410

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


  5 in total

1.  A polymorphic DNA marker genetically linked to Huntington's disease.

Authors:  J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962

2.  Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates.

Authors:  S Stengel-Rutkowski; A Warkotsch; P Schimanek; J Stene
Journal:  Clin Genet       Date:  1984-06       Impact factor: 4.438

3.  Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

Authors:  L M Kunkel; A P Monaco; W Middlesworth; H D Ochs; S A Latt
Journal:  Proc Natl Acad Sci U S A       Date:  1985-07       Impact factor: 11.205

4.  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

5.  Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)].

Authors:  M G Wilson; J W Towner; G S Coffin; A J Ebbin; E Siris; P Brager
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  5 in total
  10 in total

1.  Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

Authors:  S G Kant; A Van Haeringen; E Bakker; I Stec; D Donnai; P Mollevanger; G C Beverstock; M C Lindeman-Kusse; G J Van Ommen
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.

Authors:  R Tupler; L Bortotto; E M Bühler; M Alkan; N J Malik; N Bösch-Al Jadooa; L Memo; P Maraschio
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

3.  A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

Authors:  J Goodship; A Curtis; I Cross; J Brown; J Emslie; J Wolstenholme; S Bhattacharya; J Burn
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

4.  Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.

Authors:  O W Quarrell; R G Snell; M A Curtis; S H Roberts; P S Harper; D J Shaw
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

5.  Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease.

Authors:  Matthew G Sampson; Harald Jüppner
Journal:  Curr Pediatr Rep       Date:  2012-12-22

6.  Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome.

Authors:  L L Estabrooks; A N Lamb; A S Aylsworth; N P Callanan; K W Rao
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

7.  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

Review 8.  Concepts for the treatment of adolescent patients with missing permanent teeth.

Authors:  M Behr; O Driemel; V Mertins; T Gerlach; C Kolbeck; N Rohr; T E Reichert; G Handel
Journal:  Oral Maxillofac Surg       Date:  2008-07

9.  Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.

Authors:  M R Altherr; U Bengtsson; F F Elder; D H Ledbetter; J J Wasmuth; M E McDonald; J F Gusella; F Greenberg
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

10.  Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.

Authors:  Roy Jung; Yejin Lee; Douglas Barker; Kevin Correia; Baehyun Shin; Jacob Loupe; Ryan L Collins; Diane Lucente; Jayla Ruliera; Tammy Gillis; Jayalakshmi S Mysore; Lance Rodan; Jonathan Picker; Jong-Min Lee; David Howland; Ramee Lee; Seung Kwak; Marcy E MacDonald; James F Gusella; Ihn Sik Seong
Journal:  Hum Mol Genet       Date:  2021-04-26       Impact factor: 6.150
  10 in total

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