Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation.
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.
Chen
C P
CP
Department of Obstetrics and Gynaecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
Liu
F F
FF
Jan
S W
SW
Chen
C P
CP
Lan
C C
CC
D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D005260:Female; D005313:Fetal Death; D006554:Hernia, Umbilical / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008099:Liver / Q000002:abnormalities; D005810:Multigene Family / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics; D014463:Ultrasonography