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. 1996 Jul;33(7):615–617. doi: 10.1136/jmg.33.7.615

Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation.

C P Chen 1, F F Liu 1, S W Jan 1, C P Chen 1, C C Lan 1
PMCID: PMC1050675  PMID: 8818953

Abstract

We describe a female stillbirth with duplication of 3q21-->qter and deletion of 11q23-->qter resulting from an unbalanced segregation of a maternal t(3;11) reciprocal translocation. The proband had some of the clinical features consistent with those seen in patients with dup(3q) syndrome or distal del(11q) syndrome. Prenatal sonographic examination showed short limbs, intrauterine growth retardation, and an omphalocele containing the liver.

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Selected References

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