Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21 |
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| Authors: | Mary C Phelan PhD Robert A Saul Thompson A Gailey Jr Steven A Skinner |
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| Institution: | 1. Greenwood Genetic Center, Greenwood, South Carolina, U.S.A.;2. Greenville Hospital System, Greenville, South Carolina, U.S.A. |
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| Abstract: | Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21. |
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| Keywords: | Wolf–Hirschhorn syndrome del(4)(p16) 4p – mosaicism trisomy 21 prenatal diagnosis |
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