OBJECTIVE: To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods. METHODS: Four patients presented at Northwest Women's and Children's Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022). RESULTS: The chromosomal karyotypes of the patients were mos 46,XX,fra(16)(q22)[26]/47,XX,del(16)(q22),+chrb(16)(q22)[4]/46,XX,del(16)(q22)[3]/46,XX[91], mos 46,XY,fra(16)(q22)[21]/46,XY,del(16)(q22)[3]/46,XY[76], mos 46,XX,fra(16)(q22)[21]/ 46,XX,del(16)(q22)[4]/46,XX[75] and mos 46,XX,fra(16)(q22)[16]/46,XX,del(16)(q22)[7]/47,XX,del(16)(q22),+chrb(16)(q22)[6]/47,XX,fra(16)(q22),+chrb(16)(q22)[3]/46,XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16. CONCLUSION Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.
Humans ; Chromosome Fragile Sites/genetics* ; Chromosomes, Human, Pair 16/genetics* ; DNA Copy Number Variations/genetics* ; Karyotyping

Purpose/Significance To explore the training path of smart medical compound talents with both medical knowledge and artificial intelligence(AI)engineering technology under the background of education digital transformation.Method/Process By apply-ing the methods of educational practice and literature research,the paper analyzes the challenges faced by education digital transforma-tion,expounds the construction method of the"real-virtual"digital transformation model of smart medical education,and puts forward the training path of smart medical talents.Result/Conclusion Under the background of education digital transformation,it is necessary to reshape the concept of smart medical education and innovate the evaluation mode of smart medical education,realize the reform of"teach-ing""learning"and"management"through the smart campus system.

metastatic breast cancer , and analyze the correlation between illness uncertainty and coping style . Methods A total of 98 patients with recurrent or metastatic breast cancer were investigated using Chinese version of Mishel′s uncertainty in illness scale ( MUIS ) and medical coping mode questionnaire ( MCMQ ) . Results The average score of illness uncertainty in patients with recurrent or metastatic breast cancer was (62.50 ±10.89), and the level of illness uncertainty was intermediate .The score of coping style in patients with recurrent or metastatic breast cancer were higher than domestic norm .The scores of avoidance in coping style between two groups was significantly different (P<0.01).Partial correlation analysis indicated that the total score of illness uncertainty was negatively correlated with avoidance in coping style (P<0.05), positively correlated with resignation in coping style (P<0.01) and not correlated with confrontation in coping style (P>0.05).Conclusions Coping style of patients with recurrent or metastatic breast cancer is correlated with their illness uncertainty .Nurses should evaluate illness uncertainty in patients with recurrent or metastatic breast cancer and help them to take effective coping style so as to decrease illness uncertainty and improve therapeutic adherence and confidence in these patients .