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
This publication has 10 references indexed in Scilit:
- A mentally and physically retarded girl with a familial balanced reciprocal translocation t(7; 13)Hereditas, 2009
- Assignment of aberration breakpoints in banded chromosomesNature, 1977
- De novo balanced reciprocal translocation 46,XY,t(6;8)(q13;q22).Journal of Medical Genetics, 1977
- Two reciprocal translocations associated with microcephaly and retardation.Journal of Medical Genetics, 1977
- Apparently balanced de novo translocations in patients with abnormal phenotypes: Report of 6 casesClinical Genetics, 1977
- High Resolution of Human ChromosomesScience, 1976
- Paracentric inversion of a human chromosome 7Human Genetics, 1976
- [Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].1973
- Incidence and mutation rates of structural rearrangements of the autosomes in manAnnals of Human Genetics, 1972