Literature DB >> 1956066

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.

M Ireland1, C English, I Cross, W T Houlsby, J Burn.   

Abstract

A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.

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Year:  1991        PMID： 1956066      PMCID： PMC1015799          DOI： 10.1136/jmg.28.9.639

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


  6 in total

1.  TRANSLOCATION IN DE LANGE'S SYNDROME?

Authors:  A P CRAIG; L LUZZATTI
Journal:  Lancet       Date:  1965-08-28       Impact factor: 79.321

2.  The Brachmann-de Lange syndrome in two siblings of normal parents.

Authors:  J P Fryns; A M Dereymaeker; M Hoefnagels; F D'Hondt; G Mertens; H van den Berghe
Journal:  Clin Genet       Date:  1987-06       Impact factor: 4.438

3.  Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies.

Authors:  P Franceschini; M Cirillo Silengo; G Davi; R Bianco; M Biagioli
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

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.  Partial deletion of distal 17q.

Authors:  J Bridge; W Sanger; G Mosher; B Buehler; R Nelson; M Welsh; J Newland; M Kafka
Journal:  Am J Med Genet       Date:  1985-06

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
  9 in total

Review 1.  Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

Authors:  K L Russell; J E Ming; K Patel; L Jukofsky; M Magnusson; I D Krantz
Journal:  Am J Med Genet       Date:  2001-12-15

2.  SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development.

Authors:  R J Blaschke; A P Monaghan; S Schiller; B Schechinger; E Rao; H Padilla-Nash; T Ried; G A Rappold
Journal:  Proc Natl Acad Sci U S A       Date:  1998-03-03       Impact factor: 11.205

3.  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

4.  Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

Authors:  Katarzyna Borg; Paweł Stankiewicz; Ewa Bocian; Anna Kruczek; Ewa Obersztyn; James R Lupski; Tadeusz Mazurczak
Journal:  Hum Genet       Date:  2005-11-15       Impact factor: 4.132

5.  Partial trisomy 3q causing mild Cornelia de Lange phenotype.

Authors:  S E Holder; L M Grimsley; R W Palmer; L J Butler; M Baraitser
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

Review 6.  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

7.  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 8.  Cohesin and human disease.

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

9.  A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

Authors:  Emma T Tonkin; Melanie Smith; Piet Eichhorn; Sandie Jones; Burhan Imamwerdi; Susan Lindsay; Mike Jackson; Tzu-Jou Wang; Maggie Ireland; John Burn; Ian D Krantz; Philippa Carr; Tom Strachan
Journal:  Hum Genet       Date:  2004-05-27       Impact factor: 4.132
  9 in total

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