Prenatal diagnosis of ring chromosome 6 |
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| Authors: | A J Dawson S L Marles C R Harman S Phillips S Menticoglou |
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| Institution: | 1. Department of Pediatrics and Child Health, Health Sciences Centre, University of Manitoba, Winnipeg, Manitoba, Canada;2. Department of Obstetrics and Gynecology, Health Sciences Centre, University of Manitoba, Winnipeg, Manitoba, Canada;3. Department of Pathology, Health Sciences Centre, University of Manitoba, Winnipeg, Manitoba, Canada |
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| 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. |
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| Keywords: | ring chromosome 6 prenatal |
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