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Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype |
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| Authors: | Jonathan P Park Malanie K McDermet Ann M Doody J Miguel Marin-Padilla John B Moeschler Doris H Wurster-Hill |
| 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. © 1993 Wiley-Liss, Inc. |
| Keywords: | chromosome cytogenetic dup(11q) dup(13q) neural tube defects translocation |