Intrauterine growth restriction associated with paternal isodisomy of chromosome 5: a clinical report and literature survey

摘要

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. The proband was prenatally detected with paternal isodisomy 5 and birth was induced at 38 weeks of gestation due to intrauterine growth restriction. There was also confined placental mosaicism along with the isodisomy. Results: No major phenotypic correlation observed. This is the first case of paternal isodisomy 5 with phenotypically normal child. Conclusions: The present case supports the reports that genes on chromosome 5 are nonimprinted. The implications of abnormal genetic findings on genetic counseling are discussed.