Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomic hybridization / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze genomic copy number variations in an infant with Cri du Chat syndrome, and to explore the underlying genetic cause.</p><p><b>METHODS</b>G-banding analysis was carried out on cultured peripheral blood sample from the patient. Copy number variation analysis was performed using microarray comparative genomic hybridization, and the result was verified with fluorescence in situ hybridization.</p><p><b>RESULTS</b>The infant was found to have a 46, XY, der(5) (p?) karyotype. By microarray comparative genomic hybridization, a 23.263 Mb deletion was detected in 5p14.2-p15.3 region in addition to a 14.602 Mb duplication in 12p31 region. A derivative chromosome was formed by rejoining of 12p31 region with the 5p14.2 breakpoint. The patient therefore has a karyotype of arr cgh 5p15.3p14.2 (PLEKHG4B>CDH12)× 1 pat, 12p13.33p13.1 (IQSEC3>GUC Y2C)× 3 pat. Loss of distal 5p and gain of distal 12p were verified with fluorescence in situ hybridization.</p><p><b>CONCLUSION</b>The Cri du Chat syndrome manifested by the patient was caused by deletion of distal 5p from an unbalanced translocation involving chromosome 5. Microarray comparative genomic hybridization is a powerful tool for revealing genomic copy number variations for its high-resolution, high-throughput and high accuracy.</p>

Posterior nutcracker syndrome associated with interrupted left inferior vena cava with azygos continuation and retroaortic right renal vein.

Various anatomic anomalies have been considered the causes of nutcracker syndrome (NCS). Posterior NCS refers to the condition, in which vascular narrowing was secondary to the compression of the retroaortic left renal vein while it is crossing between the aorta and the vertebral column. Here, we report an unusual case of posterior NCS associated with a complicated malformation of the interrupted left inferior vena cava with azygos continuation and retroaortic right renal vein, diagnosed by both color Doppler ultrasonography and CT angiography.

[Clinical application of 16-slice spiral CT coronary angiography].

OBJECTIVE: To assess the clinical value of multislice spiral CT coronary angiography (MSCTCA). METHODS: Totally 79 patients were examined with MSCTCA and the CT images were reconstructed by several methods to analyze the factors crucial for the image quality, the ability of MSCT displaying the coronary artery vessels, along with the nature and calcification degrees of the plaques. The presence as well as the degree of vascular stenosis, visualization of the bypass graft, implanted stents and patency of the vessels were evaluated. RESULTS: The left main coronary artery and the left anterior descending artery were all best visualized in 75% R-R phases while the right coronary artery and the left circumflex artery in 62.5% R-R phases. CT images obtained by volume rendering showed the best quality at 75% R-R phases. 16-slice spiral CT was able to display from the primary to the tertiary, and even the quaternary branches of the coronary artery, and clearly displayed the coronary plaques, stenosis, implanted stents and bypass grafts. CONCLUSION: MSCTCA has a good clinical value in the primary identification of coronary heart disease and reexamination after revascularization.