Literature DB >> 6655676

Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome.

W G Wilson, J M Kennaugh, J P Kugler, H E Wyandt.   

Abstract

A patient with the Brachmann-de Lange syndrome was found to have an apparently balanced de novo translocation 14q; 21q. The relationship between this uncommon translocation and the patient's phenotype is unclear. Although most patients with the Brachmann-de Lange syndrome have normal chromosomes, the possibility of aetiological heterogeneity, including some rare chromosomal abnormalities, cannot be dismissed.

Entities:  

Mesh：

Year:  1983        PMID： 6655676      PMCID： PMC1049187          DOI： 10.1136/jmg.20.6.469

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


  6 in total

1.  High resolution of human chromosomes.

Authors:  J J Yunis
Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

2.  Pathological features in the de Lange syndrome.

Authors:  N E France; L Crome; J M Abraham
Journal:  Acta Paediatr Scand       Date:  1969-09

3.  Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome.

Authors:  E J Breslau; C Disteche; J G Hall; H Thuline; P Cooper
Journal:  Am J Med Genet       Date:  1981

4.  The dup(3q) syndrome: report of eight cases and review of the literature.

Authors:  P Steinbach; W N Adkins; H Caspar; K W Dumars; J Gebauer; E F Gilbert; T Grimm; M Habedank; I Hansmann; J Herrmann; E G Kaveggia; U Langenbeck; L F Meisner; T M Najafzadeh; J M Opitz; C G Palmer; H H Peters; W Scholz; A S Tavares; C Wiedeking
Journal:  Am J Med Genet       Date:  1981

5.  Discordance for Cornelia de Lange syndrome in twins.

Authors:  R E Stevenson; C I Scott
Journal:  J Med Genet       Date:  1976-10       Impact factor: 6.318

6.  Chromosomes in the Cornelia de Lange syndrome.

Authors:  B Beck; M Mikkelsen
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  6 in total
  5 in total

1.  Brachmann-de Lange syndrome in sibs.

Authors:  K K Naguib; A S Teebi; S A Al-Awadi; M J Marafie
Journal:  J Med Genet       Date:  1987-10       Impact factor: 6.318

2.  Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.

Authors:  I D Krantz; E Tonkin; M Smith; M Devoto; A Bottani; C Simpson; M Hofreiter; V Abraham; L Jukofsky; B P Conti; T Strachan; L Jackson
Journal:  Am J Med Genet       Date:  2001-06-15

Review 3.  Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

Authors:  Cheryl DeScipio; Maninder Kaur; Dinah Yaeger; Jeffrey W Innis; Nancy B Spinner; Laird G Jackson; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2005-09-01       Impact factor: 2.802

4.  NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Authors:  Lynette A Gillis; Jennifer McCallum; Maninder Kaur; Cheryl DeScipio; Dinah Yaeger; Allison Mariani; Antonie D Kline; Hui-hua Li; Marcella Devoto; Laird G Jackson; Ian D Krantz
Journal:  Am J Hum Genet       Date:  2004-08-18       Impact factor: 11.025

Review 5.  Cohesin and human disease.

Authors:  Jinglan Liu; Ian D Krantz
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.