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

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.

• Authors: M J Pettenati, R Hayworth, K Cox, P N Rao
• Journal: Clinical genetics (Clin Genet) Vol. 45 Issue 1 Pg. 17-20 (Jan 1994) ISSN: 0009-9163 [Print] Denmark
• PMID: 8149646 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA Probes

Topics

• Adult
• Cell Line
• Chromosome Aberrations
• Chromosome Disorders
• Cri-du-Chat Syndrome (diagnosis, genetics)
• DNA Probes
• Female
• Humans
• In Situ Hybridization, Fluorescence
• Prenatal Diagnosis