Diagnosis of Bloom's syndrome by sister chromatid exchange evaluation in chorionic villus cultures |
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Authors: | R T Howell Teresa Davies |
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Institution: | South Western Regional Cytogenetics Centre, Southmead Hospital, Bristol BS10 5NB, U.K. |
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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 10μM 5′;-bromodeoxyuridine for the final 48 h of incubation. This result demonstrates the feasibility of early prenatal diagnosis of Bloom's syndrome. |
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Keywords: | Bloom's syndrome sister chromatid exchange chorionic villus sampling chromosome breakage |
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