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Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype
J P Park1, M K McDermet, A M Doody
1Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756.
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.
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