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The clinical characteristics of trisomy 1q41-qter have been described but there is not a delineation of the syndrome. Trisomy 1q and monosomy 3p deriving from a t(1 3) is an infrequent event. aCGH and QF-PCR help to delineate the genomic imbalance in prenatally detected de novo chromosome aberration, and the information acquired is useful for genetic counseling. In this case, aCGH has characterized a 3p deleted region with haploinsufficiency of the neurodevelopmental genes associated with cognitive deficit and mental retardation but without involvement of the congenital heart disease susceptibility locus, and QF-PCR has determined a paternal origin of the deletion. The pregnancy was subsequently terminated, and an 886-g female fetus was delivered with brachycephaly, hypertelorism, a short and thick nose, micrognathia and low-set ears. At 24 weeks of gestation, prenatal ultrasonography findings of the brain, heart, and other internal organs were unremarkable. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 46,XX,del(3)(p25.3). Polymorphic DNA marker analysis on uncultured amniocytes showed a paternal origin of the deletion. At 22 weeks of gestation, she underwent repeated amniocentesis, and aCGH investigation using CytoChip Oligo Array on uncultured amniocytes revealed a 9.29-Mb deletion of 3p26.3p25.3 encompassing the genes of CHL1, CNTN4, CRBN, LRRN1, ITPR1, and SRGAP3, but not involving the markers D3S1263 and D3S3594. Prenatal ultrasonography findings were unremarkable. Amniocentesis during this pregnancy revealed a distal deletion of chromosome 3p. She had experienced one intrauterine fetal death. The purpose of this case report is to present prenatal diagnosis and molecular cytogenetic characterization of pure partial monosomy 3p (3p25.3 → pter) by array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) on uncultured amniocytes.Ī 35-year-old, gravida 2, para 0, woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age.