Literature DB >> 3066220

Complex de novo rearrangement involving four chromosomes and ten break points with interstitial deletions and duplication.

R S Muneer1, J Himes, O M Rennert.   

Abstract

We describe an unusual de novo case of two interstitial deletions (5q22----5q31; 9q13----9p22) and one duplication (9q22----9p34) resulting from a 10-breakpoint, complex chromosome rearrangement of chromosomes 1, 5, 8, and 9 in a profoundly retarded woman.

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Year:  1988        PMID： 3066220     DOI： 10.1002/ajmg.1320310107

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


  2 in total

1.  Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.

Authors:  Christine Fauth; Susan M Gribble; Keith M Porter; Montserrat Codina-Pascual; Bee Ling Ng; Jürgen Kraus; Sabine Uhrig; Jürgen Leifheit; Thomas Haaf; Heike Fiegler; Nigel P Carter; Michael R Speicher
Journal:  Hum Genet       Date:  2006-01-03       Impact factor: 4.132

2.  Remarks on constitutional 5q deletions.

Authors:  H Rivera
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025
  2 in total

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