Korean J Obstet Gynecol.  1999 May;42(5):1134-1137.

A Case of Combined Partial Monosomy 5p / Trisomy 13q Associated with Sonographic Abnormalities

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.

Keyword

Partial monosomy 5p; Partial trisomy 13q

MeSH Terms

Arm
Child
Chromosome Deletion*
Chromosomes, Human, Pair 5
Heart
Humans
Infant, Newborn
Postpartum Period
Single Umbilical Artery
Trisomy*
Ultrasonography*
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