OBJECTIVE: To determine the karyotype of a cryptic structural abnormality and explore the mechanism of apparent chromosomal terminal deletion. METHODS: Fluorescence in situ hybridization(FISH) with a whole chromosome ...OBJECTIVE: To determine the karyotype of a cryptic structural abnormality and explore the mechanism of apparent chromosomal terminal deletion. METHODS: Fluorescence in situ hybridization(FISH) with a whole chromosome 7 painting probe and a 7q subterminal probe (7q36-->qter), prepared by chromosome microdissection technique, was used to analyze a case with a history of spontaneous abortion and 7q terminal deletion detected by conventional G-banding technique. RESULTS: The case was a maternal cryptic insertional translocation between chromosome region 1p32 and 7q32-->q35. The region of chromosome 7q36-->qter was not inserted in to chromosome 1, and the abnormal chromosome 7 was not a terminal deletion but an interstitial deletion. CONCLUSIONS: Chromosome insertion of the terminal region retains its telomere, which is consistent with the concept of a three-break rearrangement. Interstitial deletion may be regarded as another mechanism for terminal deletion in the chromosome banding level. Combined with chromosome microdissection, FISH technique could be a powerful diagnostic tool for detecting chromosome structural abnormalities.展开更多
By using silicon-on-insulator(SOI) platform, 12 channel waveguides, and four parallel-coupling one-microring resonator routing elements, a non-blocking four-port optical router is proposed. Structure design and optimi...By using silicon-on-insulator(SOI) platform, 12 channel waveguides, and four parallel-coupling one-microring resonator routing elements, a non-blocking four-port optical router is proposed. Structure design and optimization are performed on the routing elements at 1 550 nm. At drop state with a power consumption of 0 m W, the insertion loss of the drop port is less than 1.12 d B, and the crosstalk between the two output ports is less than-28 d B; at through state with a power consumption of 22 m W, the insertion loss of the through port is less than 0.45 d B, and the crosstalk between the two output ports is below-21 d B. Routing topology and function are demonstrated for the four-port optical router. The router can work at nine non-blocking routing states using the thermo-optic(TO) effect of silicon for tuning the resonance of each switching element. Detailed characterizations are presented, including output spectrum, insertion loss, and crosstalk. According to the analysis on all the data links of the router, the insertion loss is within the range of 0.13—3.36 d B, and the crosstalk is less than-19.46 d B. The router can meet the need of large-scale optical network-on-chip(ONo C).展开更多
文摘OBJECTIVE: To determine the karyotype of a cryptic structural abnormality and explore the mechanism of apparent chromosomal terminal deletion. METHODS: Fluorescence in situ hybridization(FISH) with a whole chromosome 7 painting probe and a 7q subterminal probe (7q36-->qter), prepared by chromosome microdissection technique, was used to analyze a case with a history of spontaneous abortion and 7q terminal deletion detected by conventional G-banding technique. RESULTS: The case was a maternal cryptic insertional translocation between chromosome region 1p32 and 7q32-->q35. The region of chromosome 7q36-->qter was not inserted in to chromosome 1, and the abnormal chromosome 7 was not a terminal deletion but an interstitial deletion. CONCLUSIONS: Chromosome insertion of the terminal region retains its telomere, which is consistent with the concept of a three-break rearrangement. Interstitial deletion may be regarded as another mechanism for terminal deletion in the chromosome banding level. Combined with chromosome microdissection, FISH technique could be a powerful diagnostic tool for detecting chromosome structural abnormalities.
基金supported by the National Natural Science Foundation of China(Nos.61107021 and 61177027)the Ministry of Education of China(Nos.20110061120052 and 20120061130008)+2 种基金the China Postdoctoral Science Foundation(Nos.20110491299 and 2012T50297)the Science and Technology Department of Jilin Province of China(No.20130522161JH)the Special Funds of Basic Science and Technology of Jilin University(No.201103076)
文摘By using silicon-on-insulator(SOI) platform, 12 channel waveguides, and four parallel-coupling one-microring resonator routing elements, a non-blocking four-port optical router is proposed. Structure design and optimization are performed on the routing elements at 1 550 nm. At drop state with a power consumption of 0 m W, the insertion loss of the drop port is less than 1.12 d B, and the crosstalk between the two output ports is less than-28 d B; at through state with a power consumption of 22 m W, the insertion loss of the through port is less than 0.45 d B, and the crosstalk between the two output ports is below-21 d B. Routing topology and function are demonstrated for the four-port optical router. The router can work at nine non-blocking routing states using the thermo-optic(TO) effect of silicon for tuning the resonance of each switching element. Detailed characterizations are presented, including output spectrum, insertion loss, and crosstalk. According to the analysis on all the data links of the router, the insertion loss is within the range of 0.13—3.36 d B, and the crosstalk is less than-19.46 d B. The router can meet the need of large-scale optical network-on-chip(ONo C).
