Molecular cytogenetic characterization of de novo concomitant proximal 21q deletion of 21q11.2q21.3 and distal Xp deletion of Xp22.33p22.2 due to an unbalanced X;21 translocation detected by amniocentesis.

OBJECTIVE: We present molecular cytogenetic characterization of de novo concomitant proximal 21q deletion of 21q11.2q21.3 and distal Xp deletion of Xp22.33p22.2 due to an unbalanced X; 21 translocation detected by amniocentesis. CASE REPORT: A 35-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X,der(X)t(X; 21) (p22.2; q21.3),-21. Simultaneous array comparative genomic hybridization (aCGH) revealed the result of an 11.9-Mb Xp22.33p22.2 deletion encompassing HCCS, SHOX, AMELX and OFD1 and a 15.4-Mb 21q11.2q21.3 deletion encompassing NRIP1 and APP. The pregnancy was subsequently terminated, and a malformed fetus was delivered with craniofacial dysmorphism. The parental karyotypes were normal. Polymorphic DNA marker analysis by quantitative fluorescence polymerase chain reaction (QF-PCR) confirmed a paternal origin of the 21q proximal deletion. Cytogenetic analysis of cord blood confirmed the karyotype of 45,X,der(X)t(X; 21) (p22.2; q21.3),-21. aCGH analysis of the cord blood confirmed the prenatal diagnosis. CONCLUSION: QF-PCR analysis is useful for determination of the parental origin of a de novo unbalanced X; autosome translocation detected by prenatal diagnosis. The information acquired is useful for genetic counseling under such a circumstance.

Comparison of clinical outcomes between conventional in vitro fertilization and intracytoplasmic sperm injection in poor responders with only single oocyte retrieved.

OBJECTIVE: To compare the clinical outcomes between conventional insemination (IVF) and intracytoplasmic sperm injection (ICSI) in poor responders with only a single oocyte retrieved. MATERIALS AND METHODS: This is a retrospective case-control study. Couples who were treated with assisted reproductive technology (ART) with a single oocyte retrieved in Mackay Memorial Hospital from 1996 to 2016 were recruited. All data were categorized into three groups, according to their fertilization method and semen quality: group A, conventional insemination with non-male factor (IVF-NMF, n = 115), group B, ICSI with male factor (ICSI-MF, n = 30), and group C, ICSI with non-male factor (ICSI-NMF, n = 49). RESULTS: No statistically significant difference was observed between IVF and ICSI groups in pregnancy outcomes, including the chemical or clinical pregnancy rate, miscarriage rate, and live birth rate. Similar fertilization rates per oocyte obtained were observed in IVF and ICSI patients, but significantly lower per mature oocyte in the ICSI group (IVF: 91.5%, ICSI-MF: 75.0%, ICSI-NMF: 77.8%). Although there is no statistical significance, the lower live birth rate is observed in group C than others (A:11.5%, B:25%, C:5%, p = 0.187). CONCLUSION: In this study, pregnancy outcomes of conventional in vitro fertilization and ICSI in poor responders with only a single oocyte retrieved were similar. However, the fertilization rate of matured oocytes in ICSI groups is significantly lower than that in the IVF group, indicating that ICSI procedures might cause oocyte damage. Therefore, the choice of fertilization method should be based on semen quality. A randomized controlled trial should be performed to confirm our findings.

Perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome.

OBJECTIVE: We present perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome. CASE REPORT: A 38-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[2]/46,XY[6]. Level II ultrasound at 20 weeks of gestation was unremarkable, and the fetus had normal male external genitalia. Following genetic counseling, the woman decided to continue the pregnancy. At 39 weeks of gestation, a healthy male baby was delivered with a body weight of 3410 g and a body length of 54.5 cm. The male external genital organs were normal. The cord blood had a karyotype of 46, XY (40/40 cells). The umbilical cord had a karyotype of 45,X[1]/46,XY[39]. During follow-up at age one month, his body weight was 4.4 Kg (15th-50th centile), and his body length was 56 cm (50th-85th centile). The infant was doing well. Interphase fluorescence in situ hybridization analysis on 100 buccal mucosal cells revealed no abnormal Y-deletion cell, and all cells contained one Y signal. CONCLUSION: Perinatal cytogenetic discrepancy may occur in the pregnancy with mosaic 45,X/46, XY at amniocentesis.

Effects of topological characteristics on rhythmic states of the D-dimensional Kuramoto model in complex networks.

Synchronization is a ubiquitous phenomenon in engineering and natural ecosystems. While the dynamics of synchronization modeled by the Kuramoto model are commonly studied in two dimensions and the state of dynamic units is characterized by a scalar angle variable, we studied the Kuramoto model generalized to D dimensions in the framework of a complex network and utilized the local synchronous order parameter between the agent and its neighbors as the controllable variable to adjust the coupling strength. Here, we reported that average connectivity of networks affects the time-dependent, rhythmic, cyclic state. Importantly, we found that the level of heterogeneity of networks governs the rhythmic state in the transition process. The analytical treatment for observed scenarios in a D-dimensional Kuramoto model at D=3 was provided. These results offered a platform for a better understanding of time-dependent swarming and flocking dynamics in nature.

Rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction analysis in a pregnancy with fetal holoprosencephaly, premaxillary agenesis, postaxial polydactyly of left hand and overriding aorta.

OBJECTIVE: We present rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) in a pregnancy with multiple fetal abnormalities. CASE REPORT: A 35-year-old, primigravid woman was referred for amniocentesis at 24 weeks of gestation because of multiple congenital anomalies in the fetus. Prenatal ultrasound at 23 weeks of gestation revealed holoprosencephaly, premaxillary agenesis, postaxial polydactyly of the left hand and overriding aorta. Amniocentesis was performed subsequently, and QF-PCR analysis using the polymorphic DNA markers of D13S789 (13q22.3), D13S790 (13q31.1) and D13S767 (13q31.3) on the DNA extracted from uncultured amniocytes and parental bloods showed trisomy 13 of maternal origin. Conventional cytogenetic analysis on the cultured amniocytes confirmed trisomy 13. The pregnancy was subsequently terminated, and a malformed fetus was delivered with multiple anomalies consistent with the prenatal diagnosis. CONCLUSION: QF-PCR analysis is useful for rapid confirmation of trisomy 13 and the parental origin when prenatal ultrasound findings are suspicious of fetal trisomy 13.

Prenatal diagnosis of mosaicism for trisomy 12 in a single colony at amniocentesis in a pregnancy with a favorable outcome.

OBJECTIVE: We present prenatal diagnosis of mosaicism for trisomy 12 in a single colony at amniocentesis with a favorable outcome. CASE REPORT: A 36-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+12[1]/46,XY[14]. In 15 colonies of cultured amniocytes, all three cells in one colony had the karyotype of 47,XY,+12, while the rest 14 colonies had the karyotype of 46,XY. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Polymorphic DNA marker analysis using the DNAs extracted from cultured amniocytes and parental bloods excluded uniparental disomy (UPD) 12. At 37 weeks of gestation, a healthy 2,828-g male baby was delivered with no phenotypic abnormality. The cord blood had a karyotype of 46,XY in 40/40 lymphocytes. Postnatal interphase fluorescence in situ hybridization (FISH) analysis on buccal cells and urinary cells revealed normal signals in 72/72 buccal cells, and trisomy 12 signals in 1/47 (2.1%) urinary cells compared with 0% (0/75 cells) of trisomy 12 signals in the normal control. CONCLUSION: Mosaicism for trisomy 12 in a single colony at amniocentesis without UPD 12 and fetal ultrasound abnormalities can be associated with a favorable outcome.

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interchromosomal insertion of ins(1;8)(p22.1;q22q23).

OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a de novo interchromosomal insertion of ins(1; 8)(p22.1; q22q23) at amniocentesis. CASE REPORT: A 34-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Conventional cytogenetic analysis revealed a chromosome 1p22.1 interstitial duplication and a chromosome 8q22-q23 interstitial deletion. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis using the DNA extracted from cultured amniocytes revealed no genomic imbalance. Metaphase fluorescence in situ hybridization (FISH) analysis on cultured amniocytes showed an interchromosomal insertion of ins(1; 8)(p22.1; q22q23) or ins(1; 8) (1pter→1p22.1::8q23→8q22::1p22.1→1qter; 8pter→8q22::8q23→8qter). The long arm of chromosome 8 between bands 8q22 and 8q23 had been directly inserted into the short arm of chromosome 1 at band 1p22.1. The karyotype was 46,XY,ins(1; 8)(p22.1; q22q23) or 46,XY,ins(1; 8)(1pter→1p22.1::8q23→8q22::1p22.1→1qter; 8pter→8q22::8q23→8qter). After genetic counseling, the parents decided to continue the pregnancy. A phenotypically normal male baby was delivered at term. CONCLUSION: FISH and aCGH are useful for genetic counseling and molecular cytogenetic characterization of a de novo interchromosomal insertion detected by amniocentesis.

Theoretical analysis and simulation of phase separation in a driven bidirectional two-lane system.

The two-lane driven system is a type of important model to research some transport systems, and also a powerful tool to investigate properties of nonequilibrium state systems. This paper presents a driven bidirectional two-lane model. The dynamic characteristics of the model with periodic boundary are investigated by Monte Carlo simulation, simple mean field, and cluster mean field methods, respectively. By simulations, phase separations are observed in the system with some values of model parameters. When the phase separation does not occur, cluster mean field results are in good agreement with simulation results. According to the cluster mean field analysis and simulations, a conjecture about the condition that the phase separation happens is proposed. Based on the conjecture, the phase boundary distinguishing phase separation state and homogeneous state is determined, and a corresponding phase diagram is drawn. The conjecture is validated through observing directly the spatiotemporal diagram and investigating the coarsening process of the system by simulation, and a possible mechanism causing the phase separation is also discussed. These outcomes maybe contribute to understand deeply transport systems including the congestion and efficiency of the transport, and enrich explorations of nonequilibrium state systems.

Theoretical analysis and simulation for a facilitated asymmetric exclusion process.

Driven diffusive systems are important models in nonequilibrium state statistical mechanics. This paper studies an asymmetric exclusion process model with nearest rear neighbor interactions associated with energy. The exact flux expression of the model is obtained by a cluster mean-field method. Based on the flux expression, the properties of the fundamental diagram have been investigated in detail. To probe the energy's influence on the coarsening process of the system, Monte Carlo simulations are carried out to acquire the monotonic phase boundary in energy-density space. Above the phase boundary, the system is inhomogeneous and the normalized residence distribution p(s) is nonmonotonically decreasing. Under the phase boundary, the system is homogeneous and p(s) is monotonically decreasing. Further study comparatively shows that the system has turned into a microscopic inhomogeneous state from a homogeneous state before the system current arrives at maximum, if nearest rear neighbor interactions are strong. Our findings offer insights to deeply understand the dynamic features of nonequilibrium state systems.