Literature DB >> 7398109

The Wolf-Hirschhorn syndrome. I. Genetics.

I W Lurie, G I Lazjuk, Y I Ussova, E B Presman, D B Gurevich.   

Abstract

Four new cases of the Wolf-Hirschhorn syndrome are presented, two of which were due to t(4;22)mat. Review of the literature (more than 100 cases of the Wolf-Hirschhorn syndrome) showed that 13 % of all the reported cases were not mutations but segregations of parental chromosomal aberrations, primarily translocations. Similar data were obtained previously for other deletions (5p--, 18p--, 18q--). Analysis of data on some "new" deletion syndromes (4q--, 8p--, 9p--, 10p--, 11p--, 11q--) revealed that 14.5 % were inherited cases. Thus, all human autosomal deletions have virtually the same genetic pattern.

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Year:  1980        PMID: 7398109     DOI: 10.1111/j.1399-0004.1980.tb00167.x

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


  20 in total

1.  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

2.  Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.

Authors:  Danielle A Callaway; Ian M Campbell; Samantha R Stover; Andres Hernandez-Garcia; Shalini N Jhangiani; Jaya Punetha; Ingrid S Paine; Jennifer E Posey; Donna Muzny; Kevin P Lally; James R Lupski; Chad A Shaw; Caraciolo J Fernandes; Daryl A Scott
Journal:  J Pediatr Genet       Date:  2018-05-30

3.  Acute NelfA knockdown restricts compensatory gene expression and precipitates ventricular dysfunction during cardiac hypertrophy.

Authors:  Saleena Alikunju; Elena Severinova; Zhi Yang; Andreas Ivessa; Danish Sayed
Journal:  J Mol Cell Cardiol       Date:  2020-04-09       Impact factor: 5.000

4.  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

Review 5.  Toward the complete genomic map and molecular pathology of human chromosome 4.

Authors:  O Riess; B Winkelmann; J T Epplen
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

6.  Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

Authors:  Peter Hammond; Femke Hannes; Michael Suttie; Koen Devriendt; Joris Robert Vermeesch; Francesca Faravelli; Francesca Forzano; Susan Parekh; Steve Williams; Dominic McMullan; Sarah T South; John C Carey; Oliver Quarrell
Journal:  Eur J Hum Genet       Date:  2011-07-27       Impact factor: 4.246

7.  A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study.

Authors:  K Coles; M Mackenzie; J Crolla; J Harvey; J Starr; F Howard; P Jacobs
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

Review 8.  Epilepsy and chromosomal abnormalities.

Authors:  Giovanni Sorge; Anna Sorge
Journal:  Ital J Pediatr       Date:  2010-05-03       Impact factor: 2.638

9.  De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).

Authors:  J Lamb; P C Harris; A O Wilkie; W G Wood; J G Dauwerse; D R Higgs
Journal:  Am J Hum Genet       Date:  1993-04       Impact factor: 11.025

10.  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

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