Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation.
- 1 February 1981
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 18 (1) , 68-71
- https://doi.org/10.1136/jmg.18.1.68
Abstract
A case of trisomy 14q mosaicism is described and compared with three other similar reported cases. The clinical picture is characterised by severe developmental retardation, failure to thrive, and somatic abnormalities including skeletal asymmetry, high arched or cleft palate, and low set dysplastic ears. The present chromosome imbalance probably resulted from dissociation of a balanced 14q15q translocation with subsequent formation of a 14q isochromosome.Keywords
This publication has 28 references indexed in Scilit:
- Partial trisomy 1q syndromeClinical Genetics, 2008
- Familial partial 14 trisomy.Journal of Medical Genetics, 1979
- Dissociation as probable origin of mosaic 45,XY,t(15;21)/46,XY,i(21q).Journal of Medical Genetics, 1978
- Delineation of robertsonian translocations in man by means of chromosome bandingEuropean Journal of Pediatrics, 1977
- 46,XX/47XX, + 14 mosaicism in a liveborn infant.Journal of Medical Genetics, 1977
- Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 → 14qter)American Journal of Medical Genetics, 1977
- Variable modes of Robertsonian fusionsCytogenetic and Genome Research, 1977
- Structure and inheritance of some heterozygous Robertsonian translocation in man.Journal of Medical Genetics, 1976
- Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21,+t(15q21q) and 46,XX,-21,+t(21q21q)Journal of Medical Genetics, 1974
- Three dicentric Y chromosomesAnnals of Human Genetics, 1970