Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype

1 January 1993

journal article
case report
Published by Wiley in American Journal of Medical Genetics

Vol. 45 (1) , 46-48
https://doi.org/10.1002/ajmg.1320450113

Abstract

Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation. This case supports the causal association of duplication 11q with neural tube defects.

Keywords

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