1.Evaluation of repeated testing with blood screening platform in confirmation of NAT non-discriminatory reactive samples
Mengfan LI ; Xuelian DENG ; Liang ZANG ; Lei ZHOU ; Xiaochun LIU ; Xiaohua LIANG ; Lunan WANG
Chinese Journal of Blood Transfusion 2026;39(4):458-464
Objective: To evaluate repeated testing on blood screening platforms in confirmation of non-discriminatory reactive (NDR) samples in nucleic acid testing (NAT). Methods: A total of 102 HBsAg-negative/NAT NDR samples were collected from voluntary blood donors at Dalian Blood Center between January 2021 and December 2023. Repeated testing was performed using two NAT platforms (Cobas s201 and Panther). For the first round of repeated testing, all samples were tested 12 times on each system; for the second round, the samples which were non-reactive or only reactive once in the first round were tested an additional 8 times. Anti-HBc and anti-HBs was detected using electrochemiluminescence assay (ECA). Meanwhile, blood donors were followed up. Results: The proportion of anti-HBc+ in 102 NDR samples was 88.2%. Forty-one samples (40.2%, 41/102) and 7 samples were confirmed HBV DNA+ in first-round and second-round repeated testing, respectively. The cumulative confirmation rate of HBV DNA+ was 47.1% (48/102) after repeated testing. Extra five blood donors detected HBV DNA+ in follow-up were identified as anti-HBc+ occult hepatitis B virus infection (OBI), while no window period infection was observed. Ultimately, there were 53 HBV infected donors confirmed, 46 HBV infection-unconfirmed, and 3 HBV uninfected. No significant difference was observed between the confirmation rate of the first-round testing and the cumulative confirmation rate after the second-round testing (P>0.05). The proportion of anti-HBc+ donors was quite high in both HBV infection-confirmed (98.1%) and unconfirmed group (82.6%), and donors with seronegative and anti-HBs-only occupied a high proportion in the latter (P<0.05). Conclusion: Numerous repeated testing of NDR samples using NAT platforms cannot achieve complete confirmation of HBV infection. Supplementary anti-HBc testing can minimize potential OBI risk among NDR donors, and is low-cost and efficient.
2.Sequence polymorphism and evolutionary analysis of HLA-A, -B, and -C loci in the northern Han Chinese population
Wenqian SONG ; Wanzhen YU ; Suning BAI ; Liying WANG ; Linnan SHAO ; Shihang ZHOU ; Xiaohua LIANG
Chinese Journal of Blood Transfusion 2026;39(6):743-749
Objective: To characterize the sequence polymorphism of HLA-A, -B, and -C loci in the northern Han Chinese population and to evaluate their selection signals and phylogenetic patterns based on long-read sequencing data. Methods: A total of 408 unrelated healthy blood donors were enrolled. Long-read sequencing of HLA-A, -B, and -C loci was performed using the PacBio Sequel II platform. The Ewens-Watterson neutrality test, sliding-window nucleotide diversity (π) and Tajima′s D analyses were conducted, together with genetic distance heatmaps, principal coordinates analysis (PCoA), and maximum likelihood phylogenetic analysis to assess polymorphism distribution, selection signals, and phylogenetic structure across the three loci. Results: The analyzed sequence lengths for the HLA-A, -B, and -C loci were 3 257 bp, 3 794 bp, and 3 831 bp, respectively; the numbers of locus-specific sequence types were 44, 82, and 56, with corresponding locus-specific sequence type diversities of 0.905 2, 0.964 9, and 0.939 8, respectively. The Ewens-Watterson test showed no significant deviation from neutrality (P>0.05). Sliding-window analysis revealed elevated π and Tajima′s D values in exons 2 and 3 as well as in certain intronic regions of HLA-A and HLA-B, whereas HLA-C exhibited relatively lower overall diversity. Genetic distance heatmaps, PCoA, and phylogenetic analysis consistently showed clear clustering in HLA-A and HLA-C, while HLA-B displayed the highest phylogenetic heterogeneity. Conclusion: HLA-A, -B, and -C gene sequences in the northern Chinese Han population exhibit high levels of polymorphism and marked regional heterogeneity. HLA-B shows greater diversity, stronger signals of selection, and more complex phylogenetic structure compared with HLA-A and HLA-C.
3.Analysis of repeated nucleic acid test results in blood donors with dual-reactive enzyme-linked immunosorbent assay results and nonreactive nucleic acid test results
Liang ZANG ; Lei ZHOU ; Xiaochun LIU ; Peng SUN ; Yaxin FAN ; Xiaohua LIANG
Chinese Journal of Blood Transfusion 2026;39(6):757-761
Objective: To investigate the impact of current laboratory testing models and screening strategies on blood safety by analyzing repeat nucleic acid testing (NAT) results obtained from blood donors who had dual-reactive enzyme-linked immunosorbent assay (ELISA) results but were initially nonreactive by NAT. Methods: Samples from blood donors with dual-reactive ELISA results and initially nonreactive NAT results collected at Dalian Blood Center from 2017 to 2025 were included. Repeated testing was performed using two NAT systems: transcription-mediated amplification (TMA) and polymerase chain reaction (PCR). The results were analyzed in terms of the frequency of reactive NAT results and the testing strategies, including minipool and individual donation testing. Results: A total of 199 samples with dual-reactive ELISA results and initially nonreactive NAT results were included,comprising 66 HBsAg-reactive samples,130 anti-HCV-reactive samples,and 3 HIV Ag/Ab-reactive samples. Among the HBsAg-reactive samples,57(57/66,86.4%)showed at least one reactive NAT result upon repeated testing,and 49 showed two or more repeat reactive results. Anti-HBc was reactive in 64 samples(64/66,97.0%)and nonreactive in 2 samples(2/66,3.0%);both anti-HBc-nonreactive samples remained nonreactive in repeated NAT. No stable repeat nucleic acid reactivity was observed in anti-HCV- or HIV Ag/Abreactive samples. The TMA system detected 50 reactive samples(50/66,75.8%)through three combined assays plus one discriminatory assay, whereas the PCR system detected 51 reactive samples (51/66, 77.3%) through four rounds of individual-donation testing. Fortyfour samples were reactive on both systems, 6 were reactive only on the TMA system, and 7 were reactive only on the PCR system. Conclusion: Among blood donors with dual-reactive ELISA results and initially non-reactive NAT results, HBsAg-reactive samples contain a high proportion of low viral load HBV-related cases, with intermittent and probabilistic nucleic acid detectability. Both testing frequency and detection strategy significantly affect the detection of low viral load samples. These findings highlight the importance of recognizing the detection characteristics of low viral load HBV-related samples in order to optimize blood screening strategies and improve blood safety.
4.Analysis of associated factors of two pertussis cluster outbreaks in primary schools of Yangzhong City in 2025
LI Taiyue, TONG Haiyuan, SHI Xiaohua, HUO Xiang, CHEN Qiang, QIN Si, ZHOU Yin
Chinese Journal of School Health 2026;47(8):1184-1188
Objective:
To analyze the epidemiological characteristics, associated factors, and vaccine effectiveness of two pertussis cluster outbreaks in two primary schools in Yangzhong City in 2025, so as to provide evidence for school based epidemic prevention and control.
Methods:
From August 26 to 30, 2025, a pertussis questionnaire was administered to the epidemic affected classes of two primary schools (school A and school B) in Yangzhong City. A descriptive epidemiological retrospective analysis was used to characterize the pertussis cluster outbreaks in Yangzhong City from March to July 2025. A 1∶5 matched case control study (79 cases, 395 controls) was performed. Multivariate Logistic regression was used to identify associated factors, and the clinical symptom incidence rates, types of pertussis containing vaccines, and timeliness of vaccination were compared between groups using Fisher s exact test.
Results:
From March to July 2025, a total of 79 pertussis cases were reported in the two schools, with attack rates of 1.33% and 1.01%, respectively. Cases were predominantly aged 7-8 years (85.37% in school A, 73.68% in school B), and the main clinical manifestation was productive cough (63.29%). The pneumonia incidence rate among hospitalized cases ( 57.14 %) was higher than that among nonhospitalized cases(4.17%)(Fisher s exact test, P <0.01). The interval from the last dose to onset was concentrated at 6 to <7 years (44 cases). Logistic regression showed that children exposed to secondhand smoke in daily life ( OR = 3.86 ), those whose desk mates or front/back desk mates took leave due to cough ( OR =4.67), and those whose dining table mates or front/back table mates took leave due to cough ( OR =3.67) had significantly higher risks of pertussis (all P <0.05). A high proportion of both the case group and the control group received the acellular DTaP vaccine (97.47% and 96.96%, respectively),while a low proportion received the pentavalent vaccine (1.27% and 3.04%, respectively). Additionally, one case received only three doses of the acellular DTaP vaccine.The difference in vaccine type distribution between the two groups was not statistically significant (Fisher s exact test, P =0.31).
Conclusions
The outbreaks represent breakthrough infections under high vaccine coverage. Close contact and secondhand smoke exposure are the main risk factors. A booster immunization strategy with diphtheria-tetanus-pertussis vaccine should be implemented for school aged children.
5.Comparison of SEC-RI-MALLS and SEC-RID methods for determining molecular weight and molecular weight distribution of PLGA
WANG Baocheng ; ZHANG Xiaoyan ; ZHOU Xiaohua ; ZHAO Xun ; MA Congyu ; GAO Zhengsong ; SHI Haiwei ; YUAN Yaozuo ; HANG Taijun
Drug Standards of China 2025;26(1):110-116
Objective: To establish a method for determining the molecular weight and molecular weight distribution of Poly(Lactide-co-Glycolide Acid) (PLGA) using Size Exclusion Chromatography-Refractive Index-Multiangle Laser Light Scattering (SEC-RI-MALLS) and Size Exclusion Chromatography-Refractive Index (SEC-RID), and to compare the results obtained from these two methods.
Methods: For SEC-RI-MALLS, tetrahydrofuran was used as the mobile phase, Shodex GPC KF-803L was employed as the chromatographic column with a flow rate of 1 mL·min-1, column temperature at 30 ℃, and an injection volume of 100 μL. For SEC-RID, tetrahydrofuran was also used as the mobile phase, Agilent PLgel 5 μm MIXD-D was used as the chromatographic column with a flow rate of 1 mL·min-1, column temperature at 30 ℃, differential detector temperature at 35 ℃, and an injection volume of 20 μL. The molecular weight and molecular weight distribution were calculated using Agilent’s GPC software. The newly established methods were validated methodologically, and the molecular weight and molecular weight distribution of 13 batches of samples were determined.
Results: The precision, accuracy, stability, and repeatability tests for SEC-RI-MALLS showed RSD values of 1.35%, 1.58%, 1.53%, and 1.26%, respectively. The SEC-RID method exhibited good linearity (r=0.999 9), with RSD values for precision, accuracy, stability, and repeatability tests (n=6) of 2.05%, 1.62%, 1.30%, and 2.97%, respectively. The results obtained from SEC-RI-MALLS were lower than those from SEC-RID, and the molecular weight distribution coefficient was smaller, but the results from the paired T-test performed with the value measured by SEC-RID method and the value measured by SEC-RI-MALLS method multiplied a conversion coefficient of 1.5 showed no significant difference between the two methods.
Conclusion: Both methods are stable and reliable, and can be used for the determination of PLGA molecular weight and molecular weight distribution based on the specific situations.
6.Effects of a multidisciplinary integrated weight management intervention in Beilun District
XU Chunxia ; Ding Yajun ; YUAN Yunyun ; ZHOU Yachun ; PAN Xiaohua ; ZHANG Jingjing ; CHEN Lili
Journal of Preventive Medicine 2025;37(11):1103-1107,1112
Objective:
To evaluate the effects of a multidisciplinary weight management intervention, so as to provide a reference for the formulation of overweight and obesity intervention measures.
Methods:
From April to September 2025, overweight and obese residents aged 18-60 years who participated in a weight loss competition at the Health Management Center of Beilun People's Hospital in Ningbo City were selected as study subjects. They were divided into a control group and an intervention group. The control group received conventional weight management, while the intervention group received the multidisciplinary integrated weight management in addition to the conventional weight management, for a total intervention period of 8 weeks. Weight, body mass index (BMI), waist circumference, hip circumference, waist-to-hip ratio, fasting blood glucose (FBG), triglycerides (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and blood pressure were collected before and after the intervention through physical examinations and laboratory tests. The generalized estimating equations (GEE) method was employed to analyze the differences in indicators between the two groups before and after the intervention.
Results:
The control group comprised 241 participants, including 161 females (66.80%), with a mean age of (35.66±7.80) years. The intervention group consisted of 127 participants, including 86 females (67.72%), with a mean age of (36.80±7.05) years. No statistically significant differences were observed between the two groups at baseline in terms of age, gender, weight, BMI, or waist-to-hip ratio (all P>0.05). Results from the GEE analysis indicated significant interactions between group and time for weight, BMI, waist circumference, and hip circumference (all P<0.05) with greater reductions in these parameters observed in the intervention group compared to the control group before and after the intervention. Similarly, significant interactions between group and time were observed for FBG, TG, TC, and LDL-C (all P<0.05), with the intervention group demonstrating larger decreases in these markers compared to the control group. However, no statistically significant interactions between group and time were observed for waist-to-hip ratio, HDL-C, systolic blood pressure, and diastolic blood pressure (all P>0.05). Following the intervention, a weight loss exceeding 10% was achieved by 13 participants (5.39%) in the control group and 62 participants (48.82%) in the intervention group. The proportion of individuals with a weight loss exceeding 10% was significantly higher in the intervention group compared to the control group (P<0.05).
Conclusion
Compared to conventional weight management, multidisciplinary integrated weight management demonstrated greater efficacy in improving weight-related indicators and blood glucose, blood lipids, and enhancing weight loss outcomes among overweight and obese residents.
7.Changes in reported cases and distribution of infectious disease under the grading diagnosis and treatment model in Minhang District, Shanghai
Long CHEN ; Linjuan DONG ; Yibin ZHOU ; Tingqin CHENG ; Dunjia WANG ; Zhiyin XU ; Wanli CHEN ; Wei ZHONG ; Xiaohua LIU
Shanghai Journal of Preventive Medicine 2025;37(9):795-801
ObjectiveTo analyze the reported cases of infectious diseases across different tiers of public medical and healthcare institutions in Minhang District, Shanghai from 2013 to 2023, to investigate the status and changes in reported infectious diseases in this district from a temporal, etiological, and demographic perspectives, so as to provide a scientific basis for the construction of a hierarchica early-warning surveillance system under the grading diagnosis and treatment model in medical institutions, as well as for optimizing sentinel surveillance at facilities of different levels. MethodsA retrospective analysis was performed using surveillance data from the China Disease Prevention and Control Information System in Minhang District from 2013 to 2023. Reported infectious diseases were categorized into three categories based on transmission routes: respiratory infectious diseases, intestinal infectious diseases, and sexually transmitted and blood borne infectious diseases. According to the implementation phase of the grading diagnosis and treatment policy, the research time was divided into four time periods: 2013‒2016, 2017‒2019, 2020‒2022, and 2023. The distribution and temporal changes of reported cases of infectious diseases were compared across community health service centers (CHCs), secondary hospitals, tertiary grade-A hospitals and tertiary grade-B hospitals. Chi-square test was used for univariate analysis of differences in the number of reported cases. Quantitative data with normal distribution were analyzed using parametric tests, otherwise, Kruskal⁃Wallis H tests were used. ResultsThe proportions of total reported cases of infectious diseases in medical institutions at all levels in Minhang District, Shanghai from 2013 to 2023 were 10.66% in CHCs, 9.10% in secondary hospitals, 64.95% in tertiary grade-B hospitals, and 15.29% in tertiary grade-A hospitals, with an overall decline and then rebound trend in the reported cases. After the implementation of grading diagnosis and treatment policy, the number of reported cases in CHCs and secondary hospitals showed a trend of first decreasing and then increasing, while that in tertiary grade-B hospitals showed a steady decreasing trend and that in tertiary grade-A hospitals showed an increasing trend. In terms of the research periods divided above, a total of 10 392 cases were reported in 2013‒2016 (70.34% from tertiary grade-B hospitals and 12.59% from CHCs), including 2 922 cases of respiratory infectious diseases, 1 241 cases of intestinal infectious diseases, and 6 229 cases of sexually transmitted and blood-borne infectious diseases. Between 2017 and 2019, a total of 6 967 cases were reported (73.49% from tertiary grade-B hospitals and 11.84% from tertiary grade-A hospitals), including 2 983 cases of respiratory infectious diseases, 279 cases of intestinal infectious diseases, and 3 705 cases of sexually transmitted and blood-borne infectious diseases. Between 2020 and 2022, a total of 4 599 cases were reported (69.92% from tertiary grade-B hospitals and 24.57% from tertiary grade-A hospitals), including 1 627 cases of respiratory infectious diseases, 123 cases of intestinal infectious diseases, and 2 849 cases of sexually transmitted and blood-borne infectious diseases. In 2023, a total of 4 648 cases were reported (35.20% from tertiary grade-B hospitals and 27.50% from tertiary grade-A hospitals), including 3 165 cases of respiratory infectious diseases, 69 cases of intestinal infectious diseases, and 1 414 cases of sexually transmitted and blood-borne infectious diseases. The proportion of reported cases from tertiary grade-B hospitals was the highest in all the four research periods, but exhibited an obvious decrease in 2023. The differences in the reported cases of infectious diseases with different transmission routes among medical institutions at all levels were statistically significant (χ²=3 225.628, P<0.05). The differences in the mean age of patients among medical institutions at all levels were statistically significant (H=1 325.927, P<0.05). ConclusionThere are significant differences in the number of reported cases of infectious disease in the medical institutions at different levels. Tertiary grade-B hospitals have historically dominated the number of reported cases, but its share has declined recently. Whereas, CHCs and tertiary grade-A hospitals have played an increasingly important role in the surveillance and early warning of respiratory and intestinal infectious diseases. Therefore, it is recommended to leverage the strengths of grading diagnosis and treatment to establish targeted sentinel sites and deploy specialized teams tailored to the epidemiological characteristics of specific disease categories.
8.Status of tuberculosis prevention and control knowledge with perceived stress among college and middle school students with pulmonary tuberculosis in Yantai
Chinese Journal of School Health 2025;46(12):1706-1710
Objective:
To understand the current status of tuberculosis prevention and control knowledge and perceived stress among college and middle school students with pulmonary tuberculosis (PTB) in Yantai City, and to analyze the related factors, so as to provide a basis for the school to carry out health education and psychological counseling.
Methods:
A matched case control study was conducted, with 100 PTB student patients in junior high school and above who were diagnosed at designated medical institutions from October 2020 to October 2024. Four healthy control students of the same gender, same dormitory, or same class were selected for each case. Therefore, 100 cases and 400 controls were investigated by questionnaire. The following information was collected: personal basic information; tuberculosis prevention and control awareness; and scores of the Chinese Perceived Stress Scale (CPSS). Conditional Logistic regression model and mixed linear models were used to compare the PTB prevention and control awareness rate, as well as the perceived stress between the case and control groups. Multiple linear regression analysis was used to analyze the factors that may affect the perceived stress of students with PTB.
Results:
The awareness rates of four tuberculosis knowledge items (symptoms of PTB, main causes of onset after infection, consequences of PTB patients not receiving standardized and complete treatment, the most important method to prevent PTB) were higher in the case group (40.00%, 72.00% , 38.00%, 49.00%) than the control group (21.50%, 57.50%, 22.25%, 31.25%) and the differences were statistically significant ( Wald χ 2=18.44, 8.78, 13.20, 16.89, all P <0.01). The tension score (10.49±4.20), loss of control score ( 11.21± 4.58), and total score (21.70±6.88) in the case group were higher than the control group (9.35±4.73, 9.75±5.60, 19.09±8.36) and the differences were statistically significant ( t =2.21, 2.42, 2.88, all P <0.05). The results of multiple linear regression analysis showed that age ≥ 18 years and family history of tuberculosis were the related factors affecting the overall perceived stress and tension of college and middle school students with PTB ( B total scores =4.50, 5.91; B tension score =2.39, 3.23, all P <0.05).
Conclusions
The tuberculosis prevention and control awareness rate, and the perceived stress of college and middle school students with PTB in Yantai are both higher than students without tuberculosis. Moreover, the perceived stress of students with PTB who are aged ≥18 years or have a family history of tuberculosis is even higher.
9.Association Between Obstructive Sleep Apnea and Behavioral Problems in Children
Xin ZHAO ; Wanshu LI ; Jin ZHOU ; Liqiong JIANG ; Xiaomei WANG ; Xiaohua OU ; Xiaoqing ZHANG
Journal of Sichuan University (Medical Sciences) 2025;56(5):1373-1379
Objective To investigate the effect of obstructive sleep apnea(OSA)on behavioral problems in children and the association between them.Methods A simple random sampling method was used to select 100 children aged 4 to 12 years for the case group.All of them were diagnosed with OSA through overnight polysomnography at the Sleep Medicine Center,West China Fourth Hospital,Sichuan University between October 2022 and October 2023.An additional 100 children without snoring symptoms and clinically evaluated and confirmed as not having OSA were enrolled as the control group.General demographic data of the participants were collected.The Caregiver Report Form of the Achenbach Child Behavior Checklist(CBCL)was used for behavioral problem assessment,and polysomnography data were collected.The chi-square/t test was used to analyze the inter-group differences in general data,the total score of behavioral problems,and scores for each dimension.Linear regression was performed to analyze the relationship between OSA and the total score for children's behavioral problems and those for the different dimensions.Logistic regression was applied to analyze the relationship between the obstructive apnoea-hypopnea index(OAHI)and behavioral problems in children with OSA.A logistic regression model integrating the OAHI×sex interaction term was constructed to evaluate the moderating effect of sex on the association between OAHI and behavioral problems.Results No significant differences were observed in general demographic data between the case and control groups.The total score for behavioral problems and those for each dimension were higher in the case group than those in the control group,with the total score of the case group being 24.60±1.55 and that of the control group being 8.85±0.75(P<0.001).The results of the linear regression analysis showed a positive association between OSA and both the total score for behavioral problems(b=16.01;95%CI,12.56-19.47)and those for each dimension.The results of the logistic regression analysis showed that,after adjusting for covariates,OAHI was a risk factor for behavioral problems in children with OSA(odds ratio[OR]=1.17;95%CI,1.04-1.31).After stratification by sex and adjustment for covariates,the OR value of the effect of OAHI on behavioral problems was slightly higher in female participants(1.57)than that in male participants(1.21).The interaction effect analysis showed that sex moderated the association between OAHI and behavioral problems(OR=1.64;95%CI,1.02-2.64;P=0.04).Conclusion Children with OSA are prone to developing behavioral problems.OAHI is a risk factor for behavioral problems in children with OSA,with a potentially greater effect observed in girls.
10.Genetic analysis of a Chinese pedigree with rare mosaic 11q partial duplication and a literature review.
Lili ZHOU ; Chenyang XU ; Hao WU ; Sheng HUANG ; Xueqin XU ; Xiaohua TANG
Chinese Journal of Medical Genetics 2025;42(1):94-101
OBJECTIVE:
To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
METHODS:
A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree. Peripheral blood samples from the parents, amniotic fluid from the fetus, and peripheral blood sample from the neonate were obtained. Genetic testing was carried out by using G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) technology. Relevant literature was searched in the CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases to summarize the clinical phenotypes of patients with 11q partial duplication. This study was approved by the Medical Ethics Committee of Wenzhou Central Hospital (Ethics No. L2024-07-080).
RESULTS:
The pregnant woman (G3) had a history of adverse pregnancy outcomes. During her first pregnancy (G1), prenatal ultrasound indicated intrauterine growth restriction and a Dandy-Walker variant. Follow-up at 8 years of age showed developmental delays and mild intellectual disability. During her second pregnancy (G2), prenatal ultrasound revealed nasal bone hypoplasia, and the pregnancy was terminated at 23rd gestational week. During her third pregnancy (G3), all prenatal tests were normal, and the neonate showed normal growth and development at 4 months of age. The karyotype of amniotic fluid of her first pregnancy was 46,X?, and the SNP-array analysis of neonatal peripheral blood showed arr[GRCh37/hg19]11q13.4q25(70432450_134607121)×2~3, with a mosaicism rate being approximately 40%. The karyotype for her second pregnancy was 46,X?,rec(11)dup(11q)inv(11)(p15q13)dmat[6]/46,X?[27], and the SNP-array result was arr[GRCh38]11q13.4q25(71406636_135067522)×2~3, with a mosaicism rate being approximately 75%. The karyotype for her third pregnancy was 46,X?,inv(11)(p15q13)mat, and the SNP-array result was arr(XN)×1,(1~22)×2. The karyotype of the woman was 46,XX,inv(11)(p15q13), and that of her husband was 46,XY. A review of 12 similar cases (including G1) from the literature revealed that the common clinical phenotypes of 11q partial duplication included intellectual disability (12/12), developmental delay (12/12), ear abnormalities (12/12), microcephaly (10/12), seizures (8/12), hypotonia (8/12), and congenital heart malformations (7/12).
CONCLUSION
Mosaic partial duplication of 11q may underlie the genetic etiology of this pedigree. The pregnant woman is a carrier of an inversion on chromosome 11, which might have formed the mosaic 11q partial duplication through meiotic errors and mitotic trisomy rescue mechanisms during reproduction.
Adult
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Female
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Humans
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Male
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Pregnancy
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China
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Chromosome Duplication
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Chromosomes, Human, Pair 11/genetics*
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East Asian People/genetics*
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Karyotyping
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Mosaicism
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Pedigree
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Polymorphism, Single Nucleotide
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Prenatal Diagnosis


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