Literature DB >> 1840874

Contiguous deletion syndromes.

A Ballabio1.   

Abstract

In the past few years, clinical, cytogenetic and molecular analysis of patients with complex phenotypes has led to the identification of syndromes caused by deletions of adjacent disease genes on a chromosome. These conditions, referred to as contiguous deletion syndromes, are an important component of the syndromes recognized in medical genetics, and the DNA from patients affected by these disorders is useful for the mapping and cloning of disease genes.

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Year:  1991        PMID: 1840874     DOI: 10.1016/0959-437x(91)80036-l

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  3 in total

1.  Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11.

Authors:  K Muroya; E Kinoshita; T Kamimaki; N Matsuo; T Yorifugi; T Ogata
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

2.  Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

Authors:  R C Hennekam; M Tilanus; B C Hamel; H Voshart-van Heeren; E C Mariman; S E van Beersum; M J van den Boogaard; M H Breuning
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

3.  A chromosomal deletion map of human malformations.

Authors:  C Brewer; S Holloway; P Zawalnyski; A Schinzel; D FitzPatrick
Journal:  Am J Hum Genet       Date:  1998-10       Impact factor: 11.025

  3 in total

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