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Korean Journal of Obstetrics & Gynecology 1999;42(5):1134-1137.
Published online January 1, 2001.
A Case of Combined Partial Monosomy 5p / Trisomy 13q Associated with Sonographic Abnormalities.
S J Cho, S W Jung, W S An, K J Kim, M H Park, I T Hwang
Abstract
We report here a case of partial monosomy of the short arm of chromosome 5 combined with partial trisomy 13q due to reciprocal maternal translocation t[5;13]. The newborn demonstrated Tetralogy of Fallot[TOF], and single umbilical artery. Conspicuous sonographic findings offering the chance of prenatal detection included heart anomaly and single umbilical artery. The child died 1 month postpartum.
Key Words: Partial monosomy 5p, Partial trisomy 13q


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