PRENATALLY DIAGNOSED PARTIAL TRISOMY 3Q22.2→3QTER, PARTIAL MONOSOMY 11Q25→11QTER AND INTERSTITIAL DELETION 10Q25.1-10Q25.2: A CASE REPORT AND REVIEW OF LITERATURE

Abstract

A 19-year-old pregnant woman was admitted to our ultrasound department at 20.4 weeks of gestation. Prenatal sonography identified a fetus with trigonocephaly, an omphalocele protruding out of the abdominal wall, on the right side of the umbilical cord, that contained the liver and bowel, claw hand and bot foot. Amniocentesis revealed an unbalanced chromosome constitution 46,XX,der(11)t(3,11)(q22.2,q24.3) resulting in a deletion of 11q24.3 to 11qter and a duplication of 3q22.2 to 3qter product of a “de novo imbalanced translocation”; the parents’ karyotypes were normal. The chromosome microarray results for the proband revealed a 63.07 Mb duplication in the chromosome 3 located at 3q22.2 to terminal 3q29; a 4.08 Mb deletion in the chromosome 11 located at 11q25, and a 5.66 Mb loss in the chromosome 10 located at 10q25.1 to 10q25.2. To the best of our knowledge, this is the first report of this combination of chromosomal abnormalities.