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Prenatal diagnosis of ring chromosome 6
A J Dawson1, S L Marles, C R Harman
1Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
Prenatal Diagnosis
|September 1, 1995
Abstract:
An amniocentesis was performed on a gravida 1, para 0 23-year-old female because of high maternal serum alpha-fetoprotein and nuchal thickening/cystic mass apparent on the fetal ultrasound. Detailed ultrasound examination revealed multiple anomalies including brain abnormalities. The fetus was found to have a mosaic female karyotype: 45,XX, - 6/46,XX,r(6) (p25q27) (62 per cent:38 per cent). This is the first report of a prenatally diagnosed case of ring chromosome 6.