Article
Intrauterine growth restriction associated with paternal isodisomy of chromosome 5: a clinical report and literature survey.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 Mar 2020
Kunwar Fulesh, Pabst Rebecca, Bakshi Sonal
Abstract excerpt
Background: Uniparental disomy (UPD) is a condition where both the chromosomes are inherited from the same parent. The consequences of UPD can be ranging from normal to congenital anomaly depending on the parental origin and chromosome involved.Case characteristics: Here, we describe a case of 2-year-old male with central hypotonia, torticollis, and delayed motor skills born to a nonconsanguineous healthy parent....
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