Literature DB >> 3621646

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

J P Fryns, A M Dereymaeker, M Hoefnagels, F D'Hondt, G Mertens, H van den Berghe.   

Abstract

In this report we describe two male siblings with typical Brachmann-de Lange syndrome. Both presented a severe form of this MCA syndrome, and died at the age of 3 months and 3 weeks, respectively. Family history was completely negative, parents were normal, and prometaphase chromosome studies failed to reveal a chromosomal basis for this unique malformation syndrome.

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Year:  1987        PMID： 3621646     DOI： 10.1111/j.1399-0004.1987.tb02835.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 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.  De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.

Authors:  J E Allanson; R C Hennekam; M Ireland
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

3.  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

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

5.  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

6.  Germline mosaicism in Cornelia de Lange syndrome.

Authors:  Thomas P Slavin; Noam Lazebnik; Dinah M Clark; Jaime Vengoechea; Leslie Cohen; Maninder Kaur; Laura Konczal; Carol A Crowe; Jane E Corteville; Malgorzata J Nowaczyk; Janice L Byrne; Laird G Jackson; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2012-05-11       Impact factor: 2.802
  6 in total

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