OBJECTIVE: To explore the phenotype and pathogenesis of a fetus with a rare chromosomal abnormality. METHODS: The fetus was analyzed by clinical prenatal ultrasonography, G-banding karyotyping and next generation sequencing (NGS). RESULTS: Prenatal ultrasonography of the fetus showed Dandy-Walker syndrome, growth restriction, and right-heart system dysplasia. The fetus had a chromosomal karyotype of 47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22). Duplication of 11q23.3q25 and 22q11.1q21 were also detected by NGS. The chromosomal translocation carried by the fetus was derived from his father. CONCLUSION Duplications of chromosome 11q23.3q25 and 22q11.1q11.21 segments probably underlie the Dandy-Walker syndrome, growth restriction, and hypoplasia of the right heart system in the fetus.
Chromosome Disorders ; Chromosomes, Human ; Female ; Fetus ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; Translocation, Genetic ; Trisomy

Objective: By implementing the best practice of bedtime and position after diagnostic adult lumbar puncture,we hope to establish a scientific and standardized nursing routine for lumbar puncture, shorten the bed-rest time after lumbar puncture, and improve the comfort of patients. Methods: By reviewing literatures related to positions after adult lumbar puncture and post-dural puncture headache, six best practice were concluded. By combining the best evidence and the clinical circumstances, the evidenced-based criteria were established and then applied in the Neurology Department. Results: After two rounds of reviews, the results showed that except the 93.3% compliance with the new evidence, all other four criteria had 100% complacence. Comparing before and after applying the evidence, there was no statistically significant difference for the occurrence of post-dural puncture headache or dizziness(P>0.05), there was a statistically significant reduction of back pain from 28.3%(30/106) to 15.1%(18/119)(χ² value was 5.799, P<0.05) when the evidence was applied. Conclusions The best practice shows that patients needn′t lie on bed for 4 to 6 hours after lumbar puncture, the occurrence of back pain is lowered and the comfort level of the patient is improved in those who rest with pillow or activities.