Literature DB >> 8149646

Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH).

M J Pettenati1, R Hayworth, K Cox, P N Rao.   

Abstract

Fluorescence in situ hybridization (FISH) with a chromosome-region-specific DNA probe was used prospectively on uncultured amniocyte interphase cells to detect an unbalanced chromosome abnormality that resulted in cri du chat or 5p- syndrome. Confirmation was performed by routine cytogenetics.

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Year:  1994        PMID: 8149646     DOI: 10.1111/j.1399-0004.1994.tb03983.x

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


  2 in total

1.  Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.

Authors:  E Reid; N Morrison; L Barron; E Boyd; A Cooke; D Fielding; J L Tolmie
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

Review 2.  Cri du Chat syndrome.

Authors:  Paola Cerruti Mainardi
Journal:  Orphanet J Rare Dis       Date:  2006-09-05       Impact factor: 4.123

  2 in total

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