Translocation, t(4q−;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation

The karyotype of a child with severe mental retardation, microcephaly, minor facial anomalies, and urinary tract outflow obstruction was found to be 46,XY,13q+mat. Trypsin-Giemsa banding studies showed an inherited translocation, t(4q−;13q+), in several asymptomatic members of the family including t...

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Published in:Journal of medical genetics Vol. 11; no. 2; pp. 201 - 205
Main Authors: Schrott, Helmut G., Sakaguchi, Sumiko, Francke, Uta, Luzzatti, Luigi, Fialkow, Philip J.
Format: Journal Article
Language:English
Published: England BMJ Publishing Group Ltd 01-06-1974
BMJ Publishing Group LTD
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Summary:The karyotype of a child with severe mental retardation, microcephaly, minor facial anomalies, and urinary tract outflow obstruction was found to be 46,XY,13q+mat. Trypsin-Giemsa banding studies showed an inherited translocation, t(4q−;13q+), in several asymptomatic members of the family including the propositus' mother. This indicates that the propositus had partial trisomy for the distal one-third of the long arm of chromosome 4. Review of the literature suggests that urinary tract and genital anomalies may be a consistent feature of this partial trisomy.
Bibliography:Department of Internal Medicine, University of Iowa, University Hospitals, Iowa City, Iowa 52240, USA.
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Departments of Medicine (Division of Medical Genetics) and Genetics, University of Washington, Seattle, Washington 98195, USA.
Department of Pediatrics, School of Medicine, University of California at San Diego, La Jolla, California 92037, USA.
Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305, USA.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.11.2.201