Literature DB >> 7762585

Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes".

L L Estabrooks1, W R Breg, M R Hayden, D H Ledbetter, R M Myers, H E Wyandt, T L Yang-Feng, K Hirschhorn.   

Abstract

The following is a summary of presentations given during an ancillary meeting to the 1993 American Society of Human Genetics Meeting in New Orleans, LA. This ancillary meeting, entitled "Recent Research on Chromosome 4p Syndromes and Genes," reviewed the history of the Wolf-Hirschhorn syndrome (WHS), the natural history of patients with WHS, and the smallest region of deletion associated with the WHS. The proximal 4p deletion syndrome and the duplication 4p syndrome were also described and advice was offered regarding detection of chromosome 4p deletions, duplications, and rearrangements. The current status of the physical map of chromosome 4p with emphasis on the genes that map to the 4p16 region was presented along with a preliminary phenotypic map of 4p16. The goal of this format was to provide a comprehensive review of the clinical presentations, diagnostic capabilities, and genetic mapping advances involving chromosome 4p.

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Year:  1995        PMID: 7762585     DOI: 10.1002/ajmg.1320550412

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.

Authors:  L A Christ; C A Crowe; M A Micale; J M Conroy; S Schwartz
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

Review 2.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

3.  New overgrowth syndrome and FGFR3 dosage effect.

Authors:  M M Cohen; G Neri
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

4.  Molecular characterization of patients with 18q23 deletions.

Authors:  G Strathdee; R Sutherland; J J Jonsson; R Sataloff; M Kohonen-Corish; D Grady; J Overhauser
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

5.  An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality.

Authors:  N L Shannon; E L Maltby; A S Rigby; O W Quarrell
Journal:  J Med Genet       Date:  2001-10       Impact factor: 6.318

  5 in total

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