Single coronary artery diagnosed in the perinatal period: A case report.

OBJECTIVE: Having a single coronary artery (SCA) is a rare congenital anomaly in which a single artery arises from the aorta. Although most cases of SCA are asymptomatic and incidental, its effects during the perinatal period remain unknown. Herein, we report a case of pregnant woman with suspected SCA, based on transthoracic echocardiography (TTE) findings. CASE REPORT: A 33-year-old multiparous woman presented with preterm premature rupture of the membrane at 29 weeks gestation. The patient's preoperative electrocardiogram (ECG) showed slight ST changes. TTE showed dilated right coronary artery and hypoplastic left coronary artery. Cesarean section was performed at 30 weeks of gestation due to non-reassuring fetal status. Although poor oxygenation was observed postoperatively, the patient was managed appropriately. She was diagnosed with SCA based on coronary computed tomographic angiography findings one month after delivery. CONCLUSION: Pregnant women with SCA require careful perinatal care.

Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.

Jacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no mosaicism in either parent but the mother showed uniparental disomy encompassing the deleted region found in the two siblings. The pattern of X chromosome inactivation was almost completely skewed in the mother. These data suggested that the mother was a carrier of the 11q23.3-qter deletion but that this had been rescued by disomy formation during early embryogenesis except for her germinal cells.