Publication: Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta
Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta
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Balmer, D., Baumer Wolz, A., Röthlisberger, B., & Schinzel, A. (1999). Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta. Prenatal Diagnosis, 19, 1061–1064. https://doi.org/10.1002/(sici)1097-0223(199911)19:11<1061::aid-pd687>3.0.co;2-q
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We report on a maternal uniparental disomy of chromosome 22 in a patient with severe intra-uterine growth retardation. Karyotyping of a placental tissue revealed non-mosaic trisomy 22, whereas lymphocyte chromosomes from the newborn were normal 46,XY. Microsatellite analysis using DNA extracted from white blood cells showed maternal uniparental heterodisomy for chromosome 22. Thus, the conceptus started as maternal trisomy due to meiotic non-disjunction, and trisomy rescue occurred subsequently through loss of the paternal homologue r
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- Schinzel, Albert
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Balmer, D., Baumer Wolz, A., Röthlisberger, B., & Schinzel, A. (1999). Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta. Prenatal Diagnosis, 19, 1061–1064. https://doi.org/10.1002/(sici)1097-0223(199911)19:11<1061::aid-pd687>3.0.co;2-q
