Partial trisomy 19p13.3-p13.2 from antenatal diagnosis to 7-year follow-up: case report and literature review

Partial trisomy of the short arm of chromosome 19 (19p) is a rare chromosomal abnormality with significant clinical implications. We report the prenatal diagnosis and 7-year follow-up of a boy with partial trisomy 19p13.3-p13.2 and multiple congenital anomalies including microcephaly, unilateral hydronephrosis, mild bilateral hearing loss, failure to thrive, and global developmental delay. The pregnancy was complicated by antenatal findings of severe oligohydramnios and severe intrauterine growth restriction. Amniocentesis with chromosomal microarray analysis identified a 6.8 Mb copy number gain involving chromosome 19p13.3-p13.2, arr [GRCh37] 19p13.3-p13.2 (260,911_7,089,557)x3. Maternal cytogenetic analysis revealed an apparently balanced reciprocal translocation involving chromosome 13 and 19, supporting inheritance through unbalanced chromosomal segregation. The cytogenetic and clinical findings of our patient are discussed in this report. To our knowledge, this is the first report of partial trisomy 19p13.3–p13.2 as a result of maternal reciprocal translocation in the Middle East.