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

✍ Scribed by Park, Jonathan P. ;McDermet, Malanie K. ;Doody, Ann M. ;Marin-Padilla, J. Miguel ;Moeschler, John B. ;Wurster-Hill, Doris H.

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 492 KB
Volume: 45
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320450113

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✦ Synopsis

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.

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