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A Family with a Balanced C/C Translocation Carrier and an Unbalanced 47, XY, (Cq−) + Son1

Published online by Cambridge University Press:  01 August 2014

G. Guanti ,
E. Battaglia ,
P. Petrinelli  and
N. Riggillo
G. Guanti*
Affiliation:
Institute of Genetics of the, University of Bari Institute of Clinical Pediatrics of the, University of Bari
E. Battaglia
Affiliation:
Institute of Genetics of the, University of Bari Institute of Clinical Pediatrics of the, University of Bari
P. Petrinelli
Affiliation:
Institute of Genetics of the, University of Bari Institute of Clinical Pediatrics of the, University of Bari
N. Riggillo
Affiliation:
Institute of Genetics of the, University of Bari Institute of Clinical Pediatrics of the, University of Bari
*
Istituto di Genetica dell'Università, Via Amendola 165a, 70126 Bari, Italy

Summary

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An account is given of a family identified by a newborn malformed male. The chromosome anomalies described are interpreted as indicating that the father has a balanced translocation with a reciprocal exchange between no. 9 and no. 12. The supernumerary chromosome resembling a group F element, which is found in the propositus, is in fact one of the two rearranged chromosomes present in the father. The propositus therefore is trisomic for part of no. 9 and no. 12. His brother has a normal karyotype. Possible meiotic situations leading to the formation of the observed karyotypes are discussed.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 20 , Issue 3 , July 1971 , pp. 245 - 255
Copyright
Copyright © The International Society for Twin Studies 1971

Footnotes

1

This work was supported by a research grant from the National Council of Research (C.N.R.).

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