After the introduction of origin and significance of field medical card,this paper mainly analyses the field medical card in such aspects as preferable user,information demand,function demand and structure demand.Moreover,this paper briefly introduces the technologies of two-dimensional barcode,magnetic card,IC card,optical card,radiofrequency identification and blue tooth.The radiofrequency identification technology is feasible.

OBJECTIVETo delineate the nature and origin of chromosomal copy number variants (CNVs) in a boy with mental retardation and multiple congenital malformation.

METHODSThe karyotypes of the patient and his parents were analyzed with routine G-banded chromosomal analysis. Genome DNA was analyzed by next generation sequencing (NGS).

RESULTSThe patient was found to harbor a structural aberration involving chromosome 3p. The karyotype of his father was 46,XY,t(3;7)(p26;q31), while his mother was found to be normal. NGS analysis of the patient revealed a 2.16 Mb microdeletion at 3p26.3-pter and a duplication at 7q31.33-qter.

CONCLUSIONThe structural aberration of 3p carried by the patient has derived from his father whom carried a balanced translocation of t(3;7), and his karyotype was finally determined as 46,XY,der(3) t(3;7)(p26.3;q31.33)pat. The abnormal phenotype of the patient can probably be attributed to the presence of 3p26.3-pter microdeletion and 7q31.33-qter duplication.

We reported one fetus who was identified with significantly short humeri and femora,bulging abdomen and narrowed chest at 22+2 weeks' gestation,which was consistent with clinical findings at birth.Genetic analysis revealed that this was a case of short-rib thoracic dysplasia syndrome (type Ⅲ) caused by compound heterozygous mutation in DYNC2H1.We summarized the features of prenatal ultrasound imaging and results of postpartum genetic analysis of this case to provide information for prenatal ultrasound diagnosis and postpartum consultation.

Objective To summarize the prenatal diagnosis and genetic counseling of Turner syndrome fetuses with 46,X,i(X)(q10).Methods Two gravidas admitted to the Obstetrics and Gynecology Hospital of Dalian were enrolled in this study.One gravida,who was admitted in October 2016,was classified as high risk of Down syndrome based on prenatal serologic screening and systematic ultrasonography,which found remarkably shorter humeri and femora than fetus of the same gestations.The other was suggested to be monosomy X after non-invasive prenatal testing and admitted in November 2017.Fluorescence in situ hybridization (FISH) and karyotyping were performed for prenatal diagnosis.Peripheral blood karyotyping was also offered to the two women and their partners.Results FISH test for amniotic fluid did not find numerical abnormality in 13,18,21,and sex chromosomes in these two fetuses.Karyotype analysis showed that the two fetuses were both 46,X,i(X) (q10),while their parents were normal.Both cases were terminated after genetic counseling.Conclusions Prenatal serological screening,systematic ultrasonography and non-invasive prenatal testing may help to identify Turner syndrome fetus of 46,X,i(X) (q10).Timely and accurate prenatal diagnosis may prevent the affected fetus from being born.

Objective To analyze the etiological characteristics of human Brucella strains isolated, and to improve the precision in control and prevention of brucellosis. Methods In 2016, blood samples were collected from patients in Jingyuan County Gansu Province, and tested via the Rose-Bengal Plate Agglutination Test (RBPT) and the tube agglutination test methods,and serological positive blood samples were inoculated to bidirectional blood culture bottle for culturing, and further identified by traditional biological classification method and the Brucella abortus, Brucella melitensis, Brucella ovis, and Brucella suis species-specific PCR (AMOS-PCR). Multiple-locus variable number tandem repeat sequence analysis (MLVA) -16 was used to detect molecular typing and do cluster analysis. Results The isolated strain was identified by the traditional biological classification method, bacteria could grow in thionine and reddened dye, A and M factors agglutination tests were positive, Bk2phage treatment of bacterial strain cracking, but Tb, Wb phages were not cracked. AMOS-PCR amplification result showed a 731 bp band, which was a strain of Brucella melitensis. The results of MLVA-16 showed that there was a difference in the number of repeats on some Variaable Number of Tandem Repeat(VNTR)sites of the isolated strain. Clustering analysis showed that, the isolated strain was clusted into the same clade with the clustering of Brucella melitensis type 3 from GS-201605 in Gansu. And the clustering was similar compared with that of Zhejiang, Guangdong, Fujian and Yunnan. Conclusion Human brucellosis is a inputting transmission in Gansu Province, there is a genetic variation of genotype 3 sheep Brucella between Gansu Province and other domestic provinces.