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Pallister-Killian syndrome diagnosed by chorionic villus sampling |
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| Authors: | Dr Michael Sharland MRCP Lucille Hill Rashmi Patel Michael Patton |
| Institution: | 1. Departments of Genetics, St George's Hospital Medical School, Cranmer Terrace, Tooting, London SW170RE, U.K.;2. Obstetrics and Gynaecology, St George's Hospital Medical School, Cranmer Terrace, Tooting, London SW170RE, U.K. |
| Abstract: | The first prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism. |
| Keywords: | Fetal hydrops Pallister-Killian syndrome Chorionic villus sampling |