Literature DB >> 8182724

Partial trisomy 3q causing mild Cornelia de Lange phenotype.

S E Holder1, L M Grimsley, R W Palmer, L J Butler, M Baraitser.   

Abstract

A brother and sister are reported with developmental delay and facial features suggestive of the Cornelia de Lange syndrome. Cytogenetic analysis showed them to be trisomic for the region 3q25.1-26.2 because of the inheritance of an unbalanced interchromosomal insertion from their father, who was a balanced insertion carrier. The clinical phenotype and cytogenetic analysis (including chromosome painting studies) in relation to the possible localisation of the Cornelia de Lange gene are discussed.

Entities:  

Mesh：

Year:  1994        PMID： 8182724      PMCID： PMC1049680          DOI： 10.1136/jmg.31.2.150

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


  9 in total

1.  Familial occurrence of Brachmann-de Lange syndrome.

Authors:  A Bankier; E Haan; R Birrell
Journal:  Am J Med Genet       Date:  1986-09

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.  Familial de Lange syndrome. Report of three cases in a sibship.

Authors:  N G Beratis; L Y Hsu; K Hirschhorn
Journal:  Clin Genet       Date:  1971       Impact factor: 4.438

4.  Brachmann-de Lange syndrome: evidence for autosomal dominant inheritance.

Authors:  L K Robinson; E Wolfsberg; K L Jones
Journal:  Am J Med Genet       Date:  1985-09

5.  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

6.  Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring.

Authors:  R A Williamson; M A Donlan; C R Dolan; H C Thuline; M T Harrison; J G Hall
Journal:  Am J Med Genet       Date:  1981

Review 7.  Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28.

Authors:  A J van Essen; K Kok; A van den Berg; B de Jong; F Stellink; A F Bos; H Scheffer; C H Buys
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

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

Authors:  M Ireland; C English; I Cross; W T Houlsby; J Burn
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

9.  The association of chromosome 3 duplication and the Cornelia de Lange syndrome.

Authors:  G N Wilson; V C Hieber; R D Schmickel
Journal:  J Pediatr       Date:  1978-11       Impact factor: 4.406
  9 in total
  4 in total

1.  Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.

Authors:  M Ireland; C English; I Cross; S Lindsay; T Strachan
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

Review 2.  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

3.  A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome.

Authors:  Miriam Coelho Molck; Milena Simioni; Társis Paiva Vieira; Fabíola Paoli Monteiro; Vera L Gil-da-Silva-Lopes
Journal:  Mol Syndromol       Date:  2018-06-08

Review 4.  Cohesin and human disease.

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

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