Format

Send to:

Choose Destination
See comment in PubMed Commons below
Prenat Diagn. 1994 Nov;14(11):1071-3.

Diagnosis of Bloom's syndrome by sister chromatid exchange evaluation in chorionic villus cultures.

Author information

  • 1South Western Regional Cytogenetics Centre, Southmead Hospital, Bristol, U.K.

Abstract

Cultures of a chorion biopsy taken from a pregnancy at risk of Bloom's syndrome revealed the high sister chromatid exchange frequency diagnostic of this rare disorder. To obtain the result, cultures were grown under standard conditions, with the addition of 10 microM 5'-bromodeoxyuridine for the final 48 h of incubation. This result demonstrates the feasibility of early prenatal diagnosis of Bloom's syndrome.

PMID:
7877955
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk