Background Genomic imprinting at the 11p15.5 region is critically involved in fetal growth regulation. Disturbances in this region are primarily associated with two opposing growth disorders: Silver-Russell syndrome (SRS, growth restriction) and Beckwith-Wiedemann syndrome (BWS, overgrowth). While epigenetic alterations are well-characterized in SRS and BWS, copy number variants (CNVs) rearrangements remain incompletely understood, particularly in terms of how duplication size and parental origin shape the phenotypic spectrum. Methods We present a case series of three prenatally identified fetuses with 11p15.5 duplications, characterized by chromosomal microarray analysis and Methylation-Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA). Parental origin was determined by segregation analysis. Results Case A: A focal duplication of the maternally inherited allele encompassing only the ICR2/CDKN1C domain presented with severe isolated intrauterine growth restriction (IUGR), consistent with a SRS phenotype. Case B: A large duplication of the maternally inherited allele spanning both the ICR1/H19/IGF2 and ICR2/CDKN1Cdomains resulted in a complex phenotype of IUGR (SRS-like) with omphalocele (a BWS-associated anomaly), demonstrating a mixed and paradoxical presentation. Case C: A large duplication of the paternally inherited allele of the entire 11p15.5 region was associated with a BWS phenotype, presenting with macrosomia and other features, consistent with the predominant effect of paternal inheritance. Conclusion Our findings support a model in which parental origin shows a strong tendency to determine the direction of growth dysregulation (maternal allele duplications predominantly associate with SRS-like restriction; paternal allele duplications with BWS-like overgrowth), while duplication size contributes to phenotypic complexity, with larger rearrangements involving both ICRs more frequently associated with severe or blended features. However, exceptions to this generalization exist in the literature, highlighting that 11p15.5 duplication disorders exhibit variable penetrance and expressivity.

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID). However, its diagnostic rate needs to be improved by screening for specific populations. Here, we determined the genetic cause of three ID patients in the affected pedigree and derived diagnostic insights for FXS. Enrolled at Henan Provincial People’s Hospital in April 2025, the family underwent multiple diagnostic tests. Whole-exome sequencing failed to detect causative variants—consistent with its inability to identify dynamic trinucleotide repeat expansions. Expanded pedigree analysis showed the inheritance did not fit typical autosomal dominant/recessive or X-linked models. This raised suspicion of FXS. Trinucleotide repeat primed PCR with capillary electrophoresis (TP-PCR/CE) confirmed proband III-1 as an FXS full-mutation individual, and comprehensive FXS analysis (CAFXS) validated this result while identifying counselee III-2 as a female pre-mutation carrier. All three ID cases harbored FMR1 full-mutation, with ID severity correlating with CGG repeat length. Notably, the maternal pre-mutation carrier (152 CGG repeats) had offspring with variable repeat dynamics: full-mutation (427 repeats) and reduced pre-mutation (71 repeats in III-2). These findings confirm FXS as the ID etiology and emphasize the clinical necessity of FXS-targeted screening in ID families with atypical inheritance patterns.

Introduction: Primary coenzyme Q10 (CoQ10) deficiency is a rare mitochondrial disorder with multisystem involvement, often undiagnosed in prenatal stages because of phenotypic variability and ambiguous genetic findings. Here, we report a prenatal case of primary CoQ10 deficiency type 1 diagnosed using amniocentesis, identifying compound heterozygous COQ2 variants (a maternally inherited novel splice-site variant c.779-2A>G and paternally inherited c.973A>G) in a fetus exhibiting growth restriction and cardiac anomalies. Methods: Through family-based whole-exome sequencing, we identified compound heterozygous COQ2 variants in a fetus with severe growth restriction. Pathogenicity was confirmed via minigene splicing assays and yeast complementation. Results: Minigene splicing assays demonstrated that the c.779-2A>G splice-site variant induced complete exon 5 skipping, generating a frameshift truncation (p.Leu261Glnfs∗4) that abolished the polyprenyltransferase domain. Functional studies in coq2Δ yeast revealed that both alleles impaired respiratory growth, with the truncation variant (c.779-2A>G) showing complete loss of function, whereas the missense variant (c.973A>G) exhibited partial residual activity (OD600 = 0.52 vs. wild-type 0.59). Structural modeling of p.Thr325Ala highlighted destabilization of the substrate-binding pocket because of disrupted hydrogen bonds (Thr325- Gly322/His303). Conclusion: To the best of our knowledge, this study provided the first experimental evidence for the hypomorphic nature of c.973A>G, observed in Asian cohorts with nephropathy but previously classified as a variant of uncertain significance. The variant has a minor allele frequency of 0.00071 in the gnomAD East Asian population, compared with < 0.00001 globally. This study expanded the screening spectrum of COQ2 and provided mechanistic insights into genotype-phenotype correlations in primary CoQ10 deficiency.

GREB1-like retinoic acid receptor coactivator (GREB1L) gene is associated with autosomal dominant renal hypodysplasia/aplasia 3 (RHDA3) and deafness, autosomal dominant 80 (DFNA80). Among the GREB1L variants reported, most of them are missense or frameshift, while no pathogenic synonymous variants have been recorded. Classical theory paid little attention to synonymous variants and classified it as nonpathogenic; however, recent studies suggest that the variants might be equally important. Here, we report a 7-year-old girl with new symptoms of clitoromegaly, uterovaginal, and ovarian agenesis as well as right kidney missing. A novel de novo GREB1L synonymous variant (NM_001142966: c.4731C>T, p.G1577=) was identified via whole exome sequencing. The variant was predicted to be disease-causing through in silico analysis and was classified as likely pathogenic. Minigene splicing assays confirmed a 6 bp deletion in mutant cDNA comparing with the wild type, leading to two amino acids lost in GREB1L protein. Secondary and tertiary structure modeling showed alterations in protein structure. Our finding reveals a novel GREB1L variant with a new phenotype of urogenital system and is the first to report a pathogenic synonymous variant in GREB1L which affects mRNA splicing, suggesting synonymous variants cannot be ignored in prenatal diagnosis and genetic counseling.

OBJECTIVE:To explore the value of whole exome sequencing for the inferential analysis of recessive genetic disease carrier status for couples with a child died of Primary immunodeficiency (PID).METHODS:Clinical data was collected from four couples with a childbearing history of PID who had sought genetic counseling and undergone genetic testing at Henan Provincial People's Hospital from February 2017 to December 2021. Whole exome sequencing (WES) was performed on both partners of each couple, and candidate variants were validated by Sanger sequencing and fluorescent quantitative PCR. Prenatal diagnosis was conducted on fetuses of these couples after confirming the variants.RESULTS:A total of six variants were detected in four genes including IL2RG, BTK, CYBB, and DUOX2. Among these, the c.1265G>A and c.3329G>A variants of the DUOX2 gene and the c.676C>T variant of the IL2RG gene were previously known as pathogenic variants. On the other hand, the Exon5_8del variant of the IL2RG gene, the c.184_185delAC variant of the BTK gene, and the c.472A>T variant of the CYBB gene were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics, the IL2RG: Exon5_8del, BTK: c.184_185delAC and CYBB: c.472A>T variants were classified as likely pathogenic (PVS1+PM2_Supporting+PP4).Prenatal diagnosis was conducted for three couples during their subsequent pregnancies, and the results revealed that the fetuses had the wild-type genotypes at the c.184_185 position of the BTK gene, the c.472 position of the CYBB gene, and the c.676 position of the IL2RG gene. Follow-up examinations one year after birth has found no abnormality in the infants.CONCLUSION:WES is an important tool to infer and analyze the carrier status for couples who had given births to children died of PID and improve the positive detection rate.

N6-methyladenosine methylated modification has been shown to play roles in recurrent spontaneous abortion. We aimed to explore role of heterogeneous nuclear ribonucleoprotein C in the occurrence of recurrent sponta-neous abortion. We collected embryonic villous tissues from 3 patients with recurrent spontaneous abortion (RSA group) and 3 normal control pregnancy patients. Methylated RNA immunoprecipitation sequencing, RNA sequencing, methylated RNA immunoprecipitation quantitative PCR were conducted to detect the differentially expressed m6A methylation modification gene and regulatory gene in patients with recurrent spontaneous abortion. Methylated RNA immunoprecipitation sequencing and RNA sequencing results showed that the mRNA expression level of heterogeneous nuclear ribonucleoprotein C significantly decreased in RSA group and mRNA expression level of 5-methyltetrahydrofolate-homocysteine methyltransferase increased. Real-time quantitative PCR confirmed the differential expression of heterogeneous nuclear ribonucleoprotein C and 5-methyltetrahy-drofolate-homocysteine methyltransferase. Methylated RNA immunoprecipitation quantitative PCR result showed that mRNA m6A modification level of 5-methyltetrahydrofolate-homocysteine methyltransferase decreased in RSA group. The results of western blotting, real-time quantitative PCR, immunofluorescence, matrigel invasion and wound healing assays indicated that heterogeneous nuclear ribonucleoprotein C might regulate the expression of 5-methyltetrahydrofolate-homocysteine methyltransferase by mediating m6A modi-fication, thereby reducing the proliferation and migration of trophoblast cell line, ultimately leading to the occurrence of recurrent spontaneous abortion.

Microhaplotypes (MHs), small sets of linked single nucleotide polymorphisms (SNPs), are becoming a valuable tool for paternity testing, personal identification and other different forensic purposes due to their advantages of both short tandem repeats (STRs) and SNPs. However, only a small part of MHs with small segments have been developed and reported so far. And the current population genetic data of MHs are still insufficient. MHs with small segments possess unique advantages in mixture deconvolution, degradation material identification, noninvasive prenatal paternity testing and even medical tumor diagnostic applications. In the present study, a set of 90 autosomal MHs whose PCR amplicon lengths are from 90-150 bp, of which 58 MHs are less than or equal to 100 bp are selected, and assembled into an amplification multiplex system optimized for Ion S5™ System for forensic application. Genetic diversity study of 90 MHs in the populations from different intercontinental regions shows that the polymorphism information content (PIC) values of 83 MHs are greater than 0.4 in populations from East Asia (EAS), and the average PIC value of 90 MHs is greater than 0.5. A total of EAS populations shows the highest cumulative match probability (CMP) and cumulative probability of exclusion (CPE) values in five intercontinental populations. The CMP and CPE values of 90 MHs in EAS are 1.1688 × 10-54 and 0.999999999998954. The informativeness for assignment (In) values of the 90 MHs are calculated based on data from five intercontinental populations, and the In values of 20 MHs have greater than 0.1, indicating that the 20 MHs are high effectiveness in distinguishing different intercontinental populations, which can be used as candidate ancestry informative markers. Further, we have studied the polymorphisms of the 90 MHs based on 224 unrelated individuals of Henan Han population, China, and obtained the frequency data of the 90 MHs. In the Henan Han population, the effective number of alleles (Ae) of the 90 MHs ranges from 1.7649 (MH45) to 3.9792 (MH50), and the Ae values of 10 MHs reach to 3.0; the Ae values of 80 MHs are greater than 2, and the average Ae value for these MHs is 2.422. The average expected heterozygosity, observed heterozygosity, PIC, matching probability, discrimination power and probability of exclusion values of 90 MHs in the Henan Han population are 0.5788, 0.5851, 0.5039, 0.2608, 0.7392 and 0.2806, respectively. The CMP value of 90 MHs in the study population is less than 10-54, and their CPE value reaches 0.999999999999999923. Moreover, the results of the depth of coverage, allele coverage ratio and noise level indicate that the 90 MH amplification system has well sequencing performance, and the sequencing results are reliable. The results indicate the 90 MHs show higher polymorphisms in the study population. The present panel can be well used in paternity testing and individual identification in the study population and even the populations from EAS.

Objective To analyze the clinical data of two fetuses with suspected Meckel-Gruber syndrome(MKS)and their parents,and to investigate the characteristics of gene mutation.Methods One couple with two suspected MKS fetuses received genetic counseling in Henan Provincial People's Hospital in March 2021.The pregnancy history of the mother and ultrasound image data of her two fetuses during pregnancy were collected,and the fetal renal cysts,brain structure abnormalities,facial structure abnormalities,and amniotic fluid volume were recorded.Genomic DNA was extracted from the peripheral blood of the parents and the skin tissues of two fetuses.Microduplications/deletions above 100 kb were detected by chromosome microarray analysis,and were compared with Human Genome Variation and DECIPHER database.The whole exome of fetus 2 was sequenced by high-throughput sequencing to determine the gene mutations,and fetus 1 and their parents were verified by PCR-Sanger sequencing.Bioinformatics software was used to predict the pathogenicity of mutations and to analyze the conserved nature of mutation sites.The mutations were graded and evaluated for pathogenicity according to ACMG guidelines.Results The mother experienced 4 pregnancies,in which 2 fetuses were diagnosed with MKS,and the other two fetuses ceased development.The typical characteristics of MKS infetus 1 and 2 included brain structure abnormalities and polycystic kidneys.Fetus 1 was complicated with facial structure abnormality and oligoamniotic fluid.No chromosome deletion/duplication of above 100 kb was detected in fetus 1 and 2 and their parents.Compound heterozygous variants c.978+1G＞A and c.1175C＞G(p.Pro392Arg)in TMEM67(NM_153704)were detected in fetus 1 and 2,in which c.978+lG＞A was from the father,which was a splice site mutation and was rated as pathogenic by ACMG;c.1175C＞G was derived from the mother and was a missense mutation with ACMG rating as likely pathogenic.Unipro UGENE software indicated that TMEM67 gene c.1175 was highly conserved in 6 species.Meanwhile,SIFT,Polyphen and Mutationtaster softwares showed that TMEM67 gene c.1175C＞G was pathogenic.Conclusion The compound heterozygous variants c.978+1G＞A and c.1175C＞G(p.Pro392Arg)in TMEM67(NM_153704)gene may be the genetic pathogenicity for the pedigree with MKS.

This study is to identify the pathogenic mutation of a child with Sots syndrome and provide prenatal diagnosis for his pregnant mother. Chromosome microarray technology was used to detect whether there were minor deletions/duplication in patients’ chromosomes. The gene mutation of patients was screened by next-generation sequencing technology, and it was verified by Sanger sequencing. Prenatal diagnosis of the fetus was conducted according to the selected pathogenic sites, and genetic counseling was conducted for her parents. Chromosome microarray results showed that there was no minor deletion in a chromosome 5q35 region, and the second-generation sequencing results showed that there was a c.4138delG heterozygous mutation in the patient’s NSD1 gene, and the pathogenic of this mutation was not reported in related databases. Sanger sequencing found that there was a c.4138delG heterozygous mutation in the NSD1 gene of the patient and her parents’ genotype at this locus was wild type. The prenatal gene test results indicated that there was heterozygous mutation of NSD1 gene c.4138delG in the fetus, so it was suggested to terminate the pregnancy. Gentling results indicated that the fetus and the patient inherited the same maternal chromosome 5. The heterozygous mutation of NSD1 gene c.4138delG is the pathogenic mutation of this Sots syndrome patient, and the mother may be germinal mosaicism.

OBJECTIVE:To analyze the clinical features and genetic variant in a patient with Usher syndrome.METHODS:Whole exome sequencing was carried out for the patient. Suspected variants were validated by Sanger sequencing of her parents and fetus.RESULTS:The proband was found to harbor compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene (NM_033056), which were respectively inherited from her father and mother. The same variants were not detected in 100 healthy controls. Based on the guidelines of the American Society of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PM2+PP4). By prenatal diagnosis, her fetus was found to carry the c.4095_4096insA variant. After birth, the child has passed neonatal hearing screening test, and no abnormal auditory and visual function was found after the first year.CONCLUSION:The compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene probably underlay the Usher syndrome is this proband.

OBJECTIVE:To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH).METHODS:PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree.RESULTS:The proband was found to harbor a novel variant of c.1352delA (p.N451Mfs*13) of the ADAR (NM_001111) gene. The same variant was found in her affected mother and sister, but not in her unaffected father, uncle, and 100 healthy individual.CONCLUSION:The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.

Objective:To investigate the prenatal diagnosis and genetic analysis of 9p24 microdeletion in six fetuses.Methods:Genetic data of six pregnant women with positive results of serological Down's syndrome screening at Henan Provincial People's Hospital from January 2018 to January 2020 were retrospectively collected and analyzed. Amniotic fluid and the parents' peripheral blood samples were subjected to G banding and array comparative genomic hybridization (aCGH) analysis. Detected copy number variation (CNV) were classified based on the American College of Medical Genetics and Genomics (ACMG) scoring standard.Results:Six fetuses showed no abnormalities in ultrasound during the second trimester as well as in karyotyping. A chromosome deletion of 1 019~6 001 kb at 9p24 was found in all six fetuses by aCGH, referring to disease-related genes DMRT1, SMARCA2, DOCK8, etc. The deletion of case 3 was inherited from the asymptomatic father, and the other fetal five were all de novo mutations. Cases 1, 2, 5, and 6 were pathogenic/likely pathogenic CNV carriers and cases 3 and 4 were CNV of unknown clinical significance carriers. After genetic counseling, cases 1, 2, 5, and 6 chose to terminate the pregnancies; cases 3 and 4 continued and gave birth to normal offspring. Conclusions:Fetuses with 9p24 microdeletion lack specific phenotypes before born. DMRT1 and SMARCA2 may be the key genes in this region.

目的:分析一例产前超声提示先天性白内障胎儿的遗传学病因。方法:抽取孕妇羊水、孕妇及其丈夫的外周血样，对胎儿及其父母行家系全外显子组测序，对候选致病变异用Sanger测序法进行验证。结果:胎儿 GJA8基因(NM_005267)存在c.136G>C(p.Gly46Arg)错义杂合变异，其父母该位点均为野生型。 结论:GJA8基因(NM_005267)c.136G>C(p.Gly46Arg)错义杂合变异可能是胎儿罹患先天性白内障的原因。

Objective:To explore the genetic etiology of fetuses with high suspicion of congenital skeletal malformation detected by prenatal ultrasound.Methods:This retrospective study collected 21 pregnant women with highly suspected fetal skeletal malformation indicated by ultrasound (the couples had no skeletal malformation) at Institute of Medical Genetics, Henan Provincial People's Hospital from January 2019 to August 2020. Amniotic fluid/umbilical cord blood of the fetus and peripheral blood of the couples were obtained for karyotype analysis, chromosomal microarray analysis, and whole-exome sequencing. Sanger sequencing was performed for the "pathogenic" "suspected pathogenic" "variants of uncertain significance" variants detected by whole exome sequencing. Genetic etiology of the 21 fetuses was described.Results:A total of five chromosomal abnormalities were detected, including four cases of trisomy 21 and one trisomy 18. Chromosome microarray analysis detected one case of abnormal copy number variation, 16 p11.2 microdeletion syndrome. Ten cases of monogenic diseases were found by whole exome sequencing and eight genes were involved ( SGMS2, FGFR3, DYNC2H1, WDR35, TBX5, COL2A1, FGFR2, and ALPL). Totally, 14 variations were detected, among which seven were novel variations (c.8129T>A, c.7126G>A, c.10307_10320del, and c.2641G>T in DYNC2H1 gene; c.3085G>A and c.491G>A in WDR35 gene; c.1070G>T in COL2A1 gene). Conclusions:For fetus, whose parents have no skeletal malformation, highly suspected of congenital malformation of skeletal system by prenatal ultrasound, genetic factor is the primary reason, including chromosomal abnormalities, copy number variations, and monogenic mutations.

目的 观察和分析河南地区汉族人群23个短串联重复序列(STR)基因座在亲子鉴定案例中的突变现象,并分析该复合扩增系统在法医物证中的应用价值.方法 收集1051例亲子鉴定案件的2696份样本,采用Chelex-100方法提取样本的基因组DNA,使用的PowerPlex? Fusion System荧光检测试剂盒进行PCR扩增,3500Dx遗传分析仪进行电泳分析,并用Genemapper ID-X软件进行基因分型.结果 1051例亲子鉴定案例中认定案例1013例(96.38％).1051例中观察到22例突变案例共发生23次突变,其中一步突变21例,两步突变1例;其中父源突变17例,母源突变3例,父母双向突变2例.以FGA和D5S818基因座突变率最高(0.0019),在9个基因座(D3S1358、D2S441、D2S1338、TH01、D7S820、TPOX、DYS391、D19S433和 D22S1045)中没有发生突变,突变率为0.0649％～0.1948％.结论 获得了河南地区汉族人群22个常染色体STR基因座的突变案例,本结果不仅为司法鉴定服务案例中突变情况下的亲权指数计算提供了数据支持,而且为法医学遗传标记的选择提供了客观依据.该扩增系统中所包括的23个STR基因座在河南汉族群体中具有较低的突变率,可满足日常亲子鉴定以及河南汉族群体的亲子鉴定、个体识别以及DNA数据库建设的需要.

ObjectiveAntinuclear antibodies (ANAs) have been reported to be associated with cancers. However, the role of different ANA patterns in cancers is poorly understood, especially in leukemia. This study aimed to investigate the association between ANA patterns and the outcome of leukemia in a retrospective cohort.MethodsA total of 429 adult patients initially diagnosed with leukemia at Henan Provincial People’s Hospital from January 2014 to December 2018 were included in this study, including information on patients without positive ANAs at the time of initial diagnosis, preexisting autoimmune diseases, infectious diseases, etc. The data were retrieved up to December 2020. The final sample included 196 adult patients. The risk of death outcome according to ANA patterns was estimated using multivariable Cox proportional hazards models and the overall survival for ANA patterns was analyzed using Kaplan–Meier curve.ResultsANAs with a nucleolar pattern versus negative ANA were associated with a two-fold increased risk of death outcome in leukemia, independent of sex, age, leukemia immunophenotype, cytogenetic abnormality, treatment, and blood transfusion. Further analysis revealed that the association was more significant in elder patients (≥60 years) and patients treated with tyrosine kinase inhibitor or chemotherapy (P for interaction = 0.042 and 0.010). Notably, the patients with a nucleolar pattern had shorter survival than the patients with a non-nucleolar pattern or without ANA (p < 0.001).ConclusionANAs with a nucleolar pattern are a significant predictor of poor prognosis, providing clues for prognostic assessment in patients with leukemia.

Objective:To investigate the genetic etiology of a child with epilepsy accompanied by motor retardation.Methods:A patient with epilepsy and motor retardation in Henan Provincial People′s Hospital in January 2020 and his parents′ peripheral blood 2 mL were collected.G-banded karyotyping and array-based comparative genomic hybridization (aCGH) were used to analyze the duplication / deletion of chromosome segments in child and her pa-rents.Results:The karyotype of the patient revealed 46, XX, and add(19)(p13.3→qter), whereas aCGH detected a 9.50 Mb duplication at 19q13.33q13.43[arr(hg19)(49593920_59092570)×3]. This region contains 471 genes.No abnormality was discovered in the karyotyping and aCGH analysis of the patient′s parents.The phenotypes of the patient conformed to the previously reported clinical characteristics of 19q13.3 duplication.Conclusions:The de novo 19q13.3 duplication is the cause of epilepsy and motor development retardation for the patient.Combined with aCGH, the traditional G banding is valuable to diagnose the patient with developmental delay.

目的:调查河南地区汉族人群21个短串联重复序列(STR)基因座的遗传多态性,并对该21个STR基因座的检测效能进行验证.方法:选取河南地区304例汉族无关个体,使用GoldeneyeTM DNA身份鉴定系统22NC对D4S2366等21个常染色体STR基因座多态性进行检测,用Genemapper ID-X软件进行基因分型,统计各基因座遗传学参数.选取21例二联体和存在突变位点的亲权鉴定对GoldeneyeTM DNA身份鉴定系统进行检测验证.结果:21个常染色体STR基因座的基因频率分布均符合Hardy-Weinberg平衡(P>0.05).21个STR基因座在304例河南汉族无关个体中的个体识别率介于0.8510～0.9670,多态性信息含量介于0.6600～0.8600,观察杂合度介于0.1120～0.2680,期望杂合度介于0.7320～0.8880,非父排除率介于0.4800～0.7710,典型父权指数介于1.9200～4.4700.对二联体和存在突变位点的亲权鉴定利用GoldeneyeTM DNA身份鉴定系统进行检测,均能得出明确的结论.结论:GoldeneyeTM DNA身份鉴定系统22NC扩增体系所包含的21个常染色体STR在河南汉族人群中具有高度多态性,该鉴定系统可用于河南汉族群体的亲子鉴定、个体识别以及DNA数据库建设.

OBJECTIVE:To explore the genetic basis for a child with supravalvular aortic stenosis.METHODS:The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) analysis.RESULTS:No karyotypic abnormality was detected in the child and his parents. aCGH has identified a de novo 278 kb deletion encompassing the ELN gene in 7q11.23, which overlapped with the critical region of Williams-Beuren syndrome (WBS). MLPA has confirmed above findings.CONCLUSION:The proband was diagnosed with atypical WBS. Deletion of the ELN gene may predispose to supravalvular aortic stenosis in the proband.