De novo 13q paracentric inversion in a boy with cleft palate and mental retardation
- 1 November 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 52 (2), 211-215
- https://doi.org/10.1007/bf00271575
Abstract
Summary A paracentric inversion in chromosome 13, inv(13)(q12q22), is described in a boy with mild mental retardation and multiple minor anomalies. Bromodeoxyuridine-late replication studies showed no changes in the replication pattern of bands in the abnormal chromosome 13. The relation between the proband's phenotype and his inv(13) is unclear.Keywords
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