OBJECTIVETo analyze partial deletion of the long arm of X chromosome in a family and explore the mechanism underlying its phenotypes.

METHODSG-banding technique was employed to analyze the karyotypes of the subjects, and fluorescence in situ hybridization (FISH) was used to analyze their X chromosomes with Xpter, Xqter and WCPX probes.

RESULTSThe karyotypes of the proband, her mother and her fetus were all 46,X,del(X)(q24). Combined FISH and karyotyping analysis suggested that the proband and her fetus both carried a Xq24q27.3 deletion.

CONCLUSIONThe Xq24q27.3 deletion carried by the family is closely related with premature ovarian failure but not with short stature, gonadal dysgenesis and primary amenorrhea.

Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, X ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Primary Ovarian Insufficiency ; genetics

OBJECTIVE: To assess the application value of combined detection of HbA2 and HbF for the screening of thalassemia among a population of childbearing age in Quanzhou, Fujian, and determine the optimal cut-off values for the region. METHODS: Capillary hemoglobin electrophoresis and genetic testing for α and β globin gene mutations were simultaneously carried out on 11 428 patients with suspected thalassemia. Statistical methods were used to analyze the distribution of various types of thalassemia and compare the performance of HbA2 and HbF measurement for the screening of various types of thalassemia. The optimal cut-off values for HbA2 and HbF were determined with the ROC curves. RESULTS: 4591 patients with α, β, and αβ compound thalassemia were identified by genetic testing. The most common genotypes for α and β thalassemia included --SEA/αα and β654/βN, β41-42/βN, and β17/βN. The ROC curves were drawn to compare the performance of HbA2 screening for α-, β-, αβ-compound, static α-, mild α-, and intermediate α-thalassemia, and the maximum area under the curves was 0.674, 0.984, 0.936, 0.499, 0.731, 0.956, and the optimal cut-off values for HbA2 were 2.45%, 3.25%, 3.65%, 2.95%, 2.55%, 1.75%, respectively. CONCLUSION HbA2 is an efficient indicator for identifying intermediate types of α-, β-, and αβ compound thalassemia. The combination of HbA2 and HbF measurement can effectively detect carriers for β-thalassemia mutations.
Genotype ; Hemoglobin A2/genetics* ; Heterozygote ; Humans ; Mass Screening ; Mutation ; alpha-Thalassemia ; beta-Thalassemia/genetics*

Objective To investigate the screening and gene test of thalassemia in couples of childbearing age in Quanzhou City Fujian Province.Methods A prospective design was used to collect 41 026 pairs of marriage and excellent blood samples from 12 counties in Quanzhou City,Fujian Province from July 2017 to July 2018.To analyze screened the genetic test results and genotyping of positive thalassemia couples.Firstly,the erythrocyte mean corpuscular volume (MCV) and erythrocyte mean corpuscular hemoglobin (MCH) were used for primary screening.Both sides of the couple were performed hemoglobin electrophoresis when at least one of the couples was screened positive.Couples were performed thalassemia gene detection when blood routine or hemoglobin electrophoresis of the couples was positive.The characteristics of genotypes,homologous carriers and distribution of gene mutations in Quanzhou City were analyzed.Results Among 41 026 couples of childbearing age,4 470 couples had abnormal blood routine examination results in at least one of the couples,the rate of positive screening was 10.90％.There were 952 couples who represented abnormal blood routine or hemoglobin abnormal electrophoresis.Totally 658 cases were diagnosed as thalassemia after thalassemia gene detection,and the diagnosis rate was 34.56％.Totally 493 cases of α-thalassemia were detected,and the higher genotypes were:--SEA/αα,-α3.7/αα and ααQS/αα;and 155 cases of β-thalassemia were detected,and the higher genotypes were:IVS-Ⅱ-654/N,CD41-42/N,CD17/N,βE/N,-28/N;10 cases of α complex β thalassemia were detected.Totally 56 high-risk couples with homologous thalassemia gene were detected,including 50 pairs of homologous α-thalassemia,4 pairs of homologous β-thalassemia,and 2 pairs of homologous couples with α complex β thalassemia.The rate of diagnosis and detection rate of homologous thalassemia in different counties of Quanzhou were quite different (x2 =41.939,21.129,P ＜ 0.05).Among them,the rate of diagnosis in Dehua County was the highest (53.13％,85/160),followed by Yongchun County (39.38％,63/160) and Nan'an City (37.73％,123/326).In addition,the detection rate of homologous thalassemia in Dehua County was the highest (15.00％,12/80),followed by Anxi County (8.44％,13/154) and Yongchun County (7.50％,6/80).Conclusions The incidence of thalassemia in couples of childbearing age in Quanzhou is higher,mainly due to α-thahssemia.The high-risk type of homologous carrier is present in α-thalassemia,which should be paid attention to the prevention and control of thalassemia.

OBJECTIVE: To delineate a small supernumerary marker chromosome (sSMC) derived from chromosome 9 with combined cytogenetic and molecular methods. METHODS: For a pregnant woman with fetal ultrasound revealing left ventricular punctate hyperechoic echo, and a high risk for monosomy or partial deletion of chromosome 8, chromosome 9 trisomy, monosomy or partial deletion of chromosome 11 by non-invasive prenatal testing, and an abnormal MOM value revealed by mid-term serum screening, amniocentesis was performed for G banded chromosomal analysis and single nucleotide polymorphism array (SNP-array) assay. Peripheral blood samples of the woman and her spouse were also collected for the above tests. In addition, the woman was further subjected to C banding karyotyping analysis and fluorescence in situ hybridization (FISH) assay. RESULTS: The G-banded karyotype of the pregnant women was 47,XX,+mar[20]/46,XX[80], whilst C-banding analysis showed a deep stain in the middle of the sSMC (suggestive of centromeric region) and light stain at both ends (suggestive of euchromatism). FISH combined with DAPI banding analysis using 9pter/9qter probes revealed a karyotype of 47,XX,+mar.ish i(9)(9p10)(9p++)[2]/46,XX[18], whilst SNP-array has revealed a 68.1 Mb duplication in the 9p24.3q13 region. A database search has suggested the duplication to be likely pathogenic. No abnormality was found in her fetus and spouse by karyotyping and SNP-array analysis. CONCLUSION Through combined cytogenetic and molecular genetic analysis, a sSMC derived from chromosome 9 was delineated, which has enabled genetic counseling for the couple.
Female ; Humans ; Pregnancy ; Biomarkers ; Chromosomes, Human, Pair 9/genetics* ; Genetic Testing ; In Situ Hybridization, Fluorescence ; Monosomy

Objective:This study examines the application of echocardiography in the prenatal diagnosis of copy number variation (CNV) associated with fetal congenital heart disease (CHD).Methods:A retrospective analysis was conducted on 447 singleton pregnancies from Quanzhou Maternal and Child Care Hospital (Quanzhou Children's Hospital) from January 2019 to August 2022. These individuals underwent echocardiographic assessments suggestive of fetal CHD and subsequently received invasive prenatal diagnoses. Comprehensive karyotype analysis and chromosome microarray analysis (CMA) were performed for each case. The discrepancies in the chromosomal abnormality detection were analyzed between the results produced by CMA and karyotype analysis. Furthermore, differences in the detection of pathogenic copy number variation (pCNV) between the two methods in CHD cases with diverse cardiac phenotypes, including the presence or absence of extracardiac structural malformations, the type, and quantity of cardiac structural anomalies, were explored. Statistical analysis was conducted using the Chi-square test. Results:Compared with conventional karyotype analysis, CMA demonstrated a higher detection rate of fetal chromosomal abnormalities [10.5% (47/447) vs. 20.6% (92/447), χ 2=161.56, P<0.001]. In terms of distinct cardiac phenotypes, CHD cases with extracardiac structural anomalies displayed an escalated pCNV detection rate in comparison to isolated CHD cases [11.4% (45/394) vs. 32.1% (17/53), χ 2=16.68, P<0.001]. Within the cardiac structural anomaly subgroups, increased pCNV detection rates were observed in the septal defect subgroup, conotruncal malformation subgroup, and left ventricular malformation subgroup [18.4%(29/158), 25.9%(7/27), and 25.0%(7/28) vs. 7.6%(16/210); χ 2=9.15, 9.68, and 8.55, respectively, all P<0.05]. The CMA-identified pCNV correlated with CHD included 22q11.2 deletions/duplications in eight cases, 4p16.3 deletions in two cases, 11q23.3 microduplications in two cases, 1q21.1 microdeletions/microduplications in two cases, 4q28.3 microduplications in one case, and 10p15.3 microdeletions in one case. Conclusions:CMA technology exhibited an enhanced ability to detect pCNV in fetuses with CHD. Echocardiography can guide targeted CMA screening, thereby facilitating prenatal genetic assessment of CHD.