Chromosome 10p deletion (partial monosomy 10p) is rare chromosomal disorder. It was fi rst reported in 1970. Since then, as far as we know, about 45 patients have been described. The main feature of this syndrome are craniofacial dysmorphism, congenital heart disease, vesicoureteral abnormalities, and developmental delay. We have experienced a prenatal case of Chromosome 10p terminal deletion by doing cytogenetic study due to high Down syndrome risk on quadruple test and cleft lip on prenatal ultrasonography. Conventional cytogenetic result from cord blood was 46,XY,del(10)(p13), molecular cytogenetic techniques using bacterial artifi cial chromosome array comparative genomic hybridization and fl uorescence in situ hybridization analysis result was 46,XY,del(10)(p14)(NEBL-). To our knowledge, this karyotype may be the fi rst report in Korea. We present this case with brief review of literature.
The frequency of thromboembolism is 0.3-1.2% in pregnant women, in most cases occur in veins. Especially, ovarian vein thromboses present rarely that occur in 0.02-0.18% of pregnancy. Ovarian vein thromboses are diagnosed mainly on right side, rarely bilateral or left side involvement. Ovarian vein thromboses are caused by physiologic hypercoagulability, endothelial injury, and compression of uterus during pregnancy. Mostly it occurs at postpartum. In the cases of ovarian vein thrombosis after abortion, it is very rarely reported in domestic and foreign. We report the case of bilateral ovarian vein thrombosis that was presented after abortion in early pregnancy with brief review of literature.
The trisomy 7 is rare autosomal aneuploidy worldwide, which accounts for 4%−10% of all trisomies, and most of the cases are mosaicism. The partial trisomy 7 mosaicism demonstrates facial deformities, short neck, hypotonia, developmental delay, severe growth retardation, renal anomalies, cardiac defect, skeletal anomalies with a wide range of characteristics and severities. The cases of full trisomy 7 are even rarer and the characteristics are not known well. Recently we have experienced a case of full trisomy 7 mosaicism with omphalocele, cleft palate, lower set of ears, single eye, scoliosis, upper limb deformity. It was prenatally diagnosed by chorionic villi sampling based on abnormal ultrasonographic findings at 12 weeks of gestation, using conventional karyotyping and bacterial artificial chromosome array comparative genomic hybridization. We report this case with brief review of literature.
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