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1.
Braz. j. med. biol. res ; 54(2): e9549, 2021. tab, graf
Article in English | ColecionaSUS, LILACS, ColecionaSUS | ID: biblio-1142579

ABSTRACT

Single nucleotide polymorphisms (SNPs) have important application value in the research of population genetics, hereditary diseases, tumors, and drug development. Conventional methods for detecting SNPs are typically based on PCR or DNA sequencing, which is time-consuming, costly, and requires complex instrumentation. In this study, we present a duplex probe-directed recombinase amplification (duplex-PDRA) assay that can perform real-time detection of two SNPs (rs6983267 and rs1447295) in four reactions in two tubes at 39°C within 30 min. The sensitivity of duplex-PDRA was 2×103-104 copies per reaction and no cross-reactivity was observed. A total of 382 clinical samples (179 prostate cancer patients and 203 controls) from northern China were collected and tested by duplex-PDRA assay and direct sequencing. The genotyping results were completely identical. In addition, the association analysis of two SNPs with prostate cancer risk and bone metastasis was conducted. We found that the TT genotype of rs6983267 (OR: 0.42; 95%CI: 0.23-0.78; P=0.005) decreased the risk of prostate cancer, while the CA genotype of rs1447295 (OR: 1.89; 95%CI: 1.20-2.96; P=0.005) increased the risk of prostate cancer. However, no association between the two SNPs (rs6983267 and rs1447295) and bone metastasis in prostate cancer was found in this study (P>0.05). In conclusion, the duplex-PDRA assay is an effective method for the simultaneous detection of two SNPs and shows great potential for widespread use in research and clinical settings.


Subject(s)
Humans , Male , Prostatic Neoplasms/genetics , Chromosomes, Human, Pair 8/genetics , DNA Mutational Analysis/methods , Polymorphism, Single Nucleotide , Case-Control Studies , China , Genetic Predisposition to Disease , Recombinases , Genotype
2.
Article in Chinese | WPRIM | ID: wpr-880050

ABSTRACT

OBJECTIVE@#To deeply understand the clinical manifestation, laboratory examination characteristics, diagnosis and treatment of an eight p11 myeloproliferative syndrome (EMS) with rare phenotypes.@*METHODS@#The clinical and laboratory characteristics and the process of allogeneic hematopoietic stem cell transplantation (allo-HSCT) were summarized in 1 rare EMS case involving T/B/myeloid cells. Meanwhile, 2 similar cases in the previous literature were also discussed.@*RESULTS@#The bone marrow examination indicated that the patient with B-cell acute lymphocytic leukemia. The lymph node biopsy showed that the patient was T lymphoblastic/myeloid lymphoma. The 8p11 abnormality was found by the examination of bone marrow chromosomes. The RT-PCR examination showed that the BCR-ABL fused gene was negtive. The FGFR1 breakage was found by using the FISH with FGFR1 probe in lymph node. The Mutation of FMNL3, NBPF1 and RUNX1 genes was found by using the whole exome sequencing. The patient received allo-HSCT under CR2. By the follow-up till to September 2019, the patient survived without the above-mentioned disease.@*CONCLUSION@#EMS manifest as neoplasms involving T-lineage, B-lineage, and myeloid-lineage simultaneously is extremely rare. Although the FGFR1 gene-targeted therapy can be conducted, allo-HSCT should be actively considered.


Subject(s)
Bone Marrow , Chromosomes, Human, Pair 8 , Formins , Hematologic Neoplasms , Humans , Myeloproliferative Disorders/genetics , Phenotype , Receptor, Fibroblast Growth Factor, Type 1/genetics , Translocation, Genetic
3.
Article in Chinese | WPRIM | ID: wpr-879568

ABSTRACT

OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of a fetus with structural anomaly detected by ultrasonography.@*METHODS@#The fetus and its parents were subjected to chromosomal karyotyping and CMA analysis.@*RESULTS@#The fetus was found to carry a 46,XN,t(8;11)(q21.2;q13) translocation which was inherited from its mother. CMA has found no copy number variations (CNVs) in both parents but a de novo 2.00 Mb microdeletion in the fetus at 8q13.3.@*CONCLUSION@#CMA is capable of detecting microdeletions and microduplications in fetuses with translocations detected by karyotyping analysis.


Subject(s)
Chromosome Aberrations , Chromosome Deletion , Chromosomes, Human, Pair 8 , DNA Copy Number Variations , Female , Fetus , Humans , Karyotyping , Microarray Analysis , Pregnancy , Prenatal Diagnosis
4.
Article in Chinese | WPRIM | ID: wpr-879542

ABSTRACT

OBJECTIVE@#To explore the genetic etiology for a newborn with corneal opacity.@*METHODS@#The neonate and her parents were subjected to routine G-banding chromosomal karyotyping analysis. Copy number variation (CNV) was analyzed with low-coverage whole-genome sequencing (WGS) and single nucleotide polymorphism microarray (SNP array).@*RESULTS@#No karyotypic abnormality was found in the newborn and her parents. Low-coverage WGS has identified a de novo 5.5 Mb microdeletion at chromosome 8q21.11-q21.13 in the neonate, which encompassed the ZFHX4 and PEX2 genes. The result was confirmed by SNP array-based CNV analysis.@*CONCLUSION@#The newborn was diagnosed with chromosome 8q21.11 deletion syndrome. ZFHX4 may be one of the key genes underlying this syndrome.


Subject(s)
Chromosome Banding , Chromosomes, Human, Pair 8/genetics , DNA Copy Number Variations , Female , Genetic Testing , Homeodomain Proteins/genetics , Humans , Infant, Newborn , Karyotyping , Monosomy/genetics , Peroxisomal Biogenesis Factor 2/genetics , Polymorphism, Single Nucleotide , Transcription Factors/genetics
5.
Article in Chinese | WPRIM | ID: wpr-781297

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a family affected with congenital heart defects.@*METHODS@#G-banding karyotyping, chromosomal microarray analysis (CMA) and multiplex ligation-dependent probe amplification (MLPA) were carried out to detect copy number variants in a patient with left ventricular noncompaction (LVNC) and his fetus.@*RESULTS@#G-banding karyotyping showed the patient was 45,XY,rob(15;21)(q10;q10)[36]/46,XY[64], while the fetus had an normal karyotype. CMA revealed that both had arr[hg19]8p23.1(11 232 919-11 935 465)×1. MLPA showed both had deletion of all exons of the GATA4 gene.@*CONCLUSION@#The LVNC of the patient and the ventricular septal defect(VSD) of his fetus may result from the same 8p23.1 deletion, for which GATA4 is probably the key gene.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 8 , Genetics , GATA4 Transcription Factor , Genetics , Genetic Testing , Heart Defects, Congenital , Genetics , Humans , Karyotyping
6.
Article in Chinese | WPRIM | ID: wpr-776761

ABSTRACT

OBJECTIVE@#To explore the nature and origin of chromosomal copy number variants (CNVs) in a pedigree affected with mental retardation.@*METHODS@#Genomic CNVs of the proband were analyzed by next generation sequencing (NGS). Chromosomal karyotypes of the proband and his relatives were analyzed with high-resolution karyotyping and fluorescence in situ hybridization (FISH).@*RESULTS@#Clinical phenotypes of the proband and other patients from the pedigree included mental retardation and mild dysmorphism. The results of NGS revealed that the proband carried a 16.24 Mb microduplication at 4p16.3-15.32 and a 2.2 Mb microdeletion at 8p23.3-23.2. Other patients of the pedigree harbored the same variants, while those without the phenotypes did not harbor the variants. The results of high-resolution karyotyping and FISH revealed that the mother of the proband carried a reciprocal translocation between 4p and 8p, and her karyotype was 46,XX,t(4;8)(p16;p23). No karyotypic abnormality was detected in his father.@*CONCLUSION@#The abnormal phenotypes of this pedigree may be attributed to 4p microduplication in conjunct with 8p microdeletion derived from a maternal balanced translocation between 4p and 8p.


Subject(s)
Chromosome Aberrations , Chromosome Duplication , Chromosomes, Human, Pair 4 , Chromosomes, Human, Pair 8 , Female , Genetic Testing , Humans , In Situ Hybridization, Fluorescence , Intellectual Disability , Genetics , Karyotyping , Pedigree , Phenotype
7.
Journal of Experimental Hematology ; (6): 1598-1603, 2018.
Article in Chinese | WPRIM | ID: wpr-773050

ABSTRACT

OBJECTIVES@#To explore the clinical significance of clonal evolution of additional chromosomal 8 in CML progression.@*METHODS@#An unusual case with the clonal evolution from trisomy 8 to tetrasomy 8 accompanied by 2 time of CML blast crisis (BC) was reported.@*RESULTS@#This patient suffered from 2 time of CML blast crisis and the additional chromosome 8 aberrations were accompanied. Trisomy 8 and tetrasomy 8 were detected at first CML blast crisis and second CML blast crisis, respectively. After tetrasomy 8 was developed, the c-Myc was over-expressed and the central nervous system leukemia happened in this case. Only high dose Ara-C and MTX regimen could induce remission for a short period.@*CONCLUSION@#These findings suggested that additional chromosome 8 aberrations are important marker for poor prognosis of CML patients and contribute to a poor prognosis.


Subject(s)
Blast Crisis , Chromosome Aberrations , Chromosomes, Human, Pair 8 , Clonal Evolution , Disease Progression , Humans , Leukemia, Myelogenous, Chronic, BCR-ABL Positive
9.
Colomb. med ; 47(3): 172-175, Sept. 2016. tab, graf
Article in English | LILACS | ID: biblio-828604

ABSTRACT

Abstract Case Description: It is presented the phenotype of a new compound heterozygous mutation of the genes R384X and Q356X encoding the enzyme of 11-beta-hydroxylase Clinical Findings: Severe virilization, peripheral hypertension, and early puberty. Treatment and Outcome: Managed with hormone replacement therapy (corticosteroid) and antihypertensive therapy (beta-blocker), resulting in the control of physical changes and levels of arterial tension. Clinical Relevance: According to the phenotypic characteristics of the patient, it is inferred that the R384X mutation carries an additional burden on the Q356X mutation, with the latter previously described as a cause of 11-beta-hydroxylase deficiency. The description of a new genotype, as in this case, expands the understanding of the hereditary burden and deciphers the various factors that lead to this pathology as well as the other forms of congenital adrenal hyperplasia (CAH), presenting with a broad spectrum of clinical presentations. This study highlights the importance of a complete description of the patient's CAH genetic profile as well as their parents' genetic profile.


Resumen Descripción del Caso: Se presenta el fenotipo de una nueva mutación heterocigota compuesta en los genes Q356X y R384X que codifican la enzima 11-beta-hidroxilada Hallazgos Clínicos: Virilización severa, pubertad precoz periférica e hipertensión. Tratamiento y Resultados: Manejo con terapia de reemplazo hormonal con corticoide y antihipertensivo con beta-bloqueador con lo que se logró controlar los cambios físicos y los niveles de tensión arterial. Relevancia Clínica: Según las características fenotípicas del paciente se infiere que la mutación R384X acarrea una carga adicional a la mutación Q356X, esta última descrita como causa de deficiencia de 11-beta-hidroxilasa. La descripción de nuevos genotipos, como en este caso, permite ampliar la comprensión de la carga hereditaria y descifrar los diversos factores que llevan a que esta patología, así como las demás formas de hiperplasia suprarrenal congénita (HSC), se presenten con un amplio espectro de cuadros clínicos. Esto permite resaltar la importancia de una descripción completa del perfil genético del paciente con HSC y de sus padres.


Subject(s)
Humans , Adrenal Hyperplasia, Congenital , Child, Preschool , Chromosome Mapping , Chromosomes, Human, Pair 8 , Desoxycorticosterone Acetate , Genotype
12.
Article in Chinese | WPRIM | ID: wpr-360030

ABSTRACT

<p><b>OBJECTIVE</b>To explore the clinical features and prognosis of primary acute myeloid leukemia (AML) with trisomy 8.</p><p><b>METHODS</b>The clinical data of 24 cases diagnosed as primary AML with trisomy 8 were collected. The clinical characteristics such as sex, age, subtype of FAB, blood routine and bone marrow blast at the first visit were analyzed and the relationship of the characteristics with CR rate and the prognosis was explored.</p><p><b>RESULTS</b>12 out of 24 AML patients were diagnosed as M5 (50%), while M2, M3, M4 and M6 had 3 cases, respectively (12.5%); one case did not receive the chemotherapy. 23 cases received 1-2 cycles of standard induction chemotherapy. Among them 3 cases of M3 achieved complete response (CR) and survived until the last following up with 100% 5-year OS rate. Among 20 cases of non-M3, 12 cases achieved CR1 (60%), 4 cases achieved partial response (PR) (20%), 4 cases did not respond (NR); 5 cases relapsed in follow-up for 3 years after CR1 (41.7%), 3 cases achieved CR2 after re-induction chemotherapy, and 2 cases remained NR. Among 20 cases of non-M3, 1 case failed to be followed-up after diagnosis within 1 month. The mean follow-up time of 19 cases was 26.2 (1.5-84) months, 9 cases died (6 cases of M5, 1 case of M4 and 2 cases of M2), who achieved PR and NR, or relapsed after CR1; the 3-year DFS and OS were 21%, 31.5% respectively. 2 cases of non-M3 accepted allo-HSCT with HLA-matched sibling donor and kept disease-free survival until the last following up, and survived for 58 and 66 months respectively. Except for 3 cases of M3, 2 cases received allo-HSCT and the cases without chemotherapy, the other 18 cases with initial WBC count less than 10×10(9)/L had OS and DFS longer than those of 10 cases with initial WBC count no less than 10×10(9)/L (P<0.05, P<0.01). The OS of 10 cases with CR1 was longer than OS of those cases without CR1 (P<0.01).</p><p><b>CONCLUSION</b>The incidence of trisomy 8 in M5 is higher than the other AML subtypes, and the prognosis of M5 is poor. The initial WBC count above 10×10(9)/L is a high-risk factor. M3 with trisomy 8 and RARA gene has a very good prognosis. Trisomy 8 may increase the risk of primary AML except for M3, so allo-HSCT with HLA-matched sibling donor should be carried out as much as possible after CR1. The gene mutation of FLT3, MLL, HOX11, C-kit, NPM1 may possess an important significance on prognosis.</p>


Subject(s)
Bone Marrow , Pathology , Chromosomes, Human, Pair 8 , Disease-Free Survival , Hematopoietic Stem Cell Transplantation , Humans , Induction Chemotherapy , Leukemia, Myeloid, Acute , Diagnosis , Genetics , Therapeutics , Leukocyte Count , Prognosis , Remission Induction , Trisomy
13.
Article in Chinese | WPRIM | ID: wpr-287962

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the clinical application of fluorescent in situ hybridization (FISH) for the differential diagnosis of myelodysplastic syndromes (MDS) and aplastic anemia (AA).</p><p><b>METHODS</b>A FISH kit capable of detecting the chromosomal abnormalities related to MDS was used to analyze 94 patients who were suspected to have AA by bone marrow morphology.</p><p><b>RESULTS</b>Cytogenetic abnormalities were detected in 11 of the 94 patients, which included trisomy 8 (5 cases), 20q- (1 case) and -Y (1 case). There were 4 cases related to MDS, which included 3 cases of 5q-, in which 1 case carry 20q- at the same time, and 7q- (1 case). No significant difference was found between the MDS and AA groups in terms of age, sex or routine blood examination including absolute neutrophil count, hemoglobin content and platelet count.</p><p><b>CONCLUSION</b>FISH can detect certain cytogenetic abnormalities related to MDS in patients morphologically diagnosed as AA.</p>


Subject(s)
Adolescent , Adult , Aged , Anemia, Aplastic , Diagnosis , Genetics , Bone Marrow Cells , Cell Biology , Child , Chromosome Aberrations , Chromosomes, Human, Pair 7 , Genetics , Chromosomes, Human, Pair 8 , Genetics , Female , Humans , In Situ Hybridization, Fluorescence , Methods , Karyotyping , Male , Middle Aged , Trisomy , Genetics
14.
Yonsei Medical Journal ; : 358-364, 2016.
Article in English | WPRIM | ID: wpr-147354

ABSTRACT

PURPOSE: The objective was to determine the characteristics and prognostic factors of 86 Chinese patients with trisomy 8 aberrations and compare the prognostic value of International Prognostic System (IPSS) and Revised IPSS (IPSS-R) in this cohort. MATERIALS AND METHODS: A total of 86 cases diagnosed with primary myelodysplastic syndromes (MDS) with isolated tr8 or with tr8 and other additional cytogenetic aberrations diagnosed and treated at the Union Hospital, Tongji Medical College of Huazhong University of Science and Technology between July 2002 and March 2013 were reviewed. RESULTS: The median survival of the entire group was 23.0 months, and acute myeloid leukemia (AML) developed in 43% (37/86) patients within the follow up time. The univariate analysis revealed that overall survival (OS) was correlated with age, thrombocytopenia, absolute neutrophil count, marrow blasts, cytogenetic status and red blood cell transfusion at diagnosis, and the multivariate analysis revealed that age, marrow blasts, cytogenetic status and transfusion dependence were independent parameters for the OS. The cytogenetic complexity and marrow blasts had the strongest impact on the AML transformation by multivariate analysis. Comparing the two prognostic systems, both two systems could successfully discriminate risk groups for survival. IPSS-R was more refined than IPSS for predicting OS, but had no advantage in predicting the risk of AML development. CONCLUSION: This study confirmed the influence of clinical factors on the prognosis of 86 Chinese MDS patients with trisomy 8. In addition, IPSS-R can further refine prognostic discrimination in the IPSS risk categories.


Subject(s)
Adolescent , Adult , Aged , Asian Continental Ancestry Group/genetics , Chromosome Aberrations , Chromosomes, Human, Pair 8 , Disease Progression , Female , Humans , Leukemia, Myeloid, Acute/genetics , Male , Middle Aged , Multivariate Analysis , Myelodysplastic Syndromes/ethnology , Prognosis , Retrospective Studies , Trisomy
15.
Article in Chinese | WPRIM | ID: wpr-346190

ABSTRACT

<p><b>OBJECTIVE</b>To study the relationship between loss of sex chromosomes and prognosis in children with acute myeloid leukemia (AML) M2 subtype.</p><p><b>METHODS</b>According to cytogenetic characteristics, 106 children with AML were divided into three groups: patients with normal karyotype (Group A, n=26), patients with abnormal karyotype who had no loss of sex chromosomes (Group B, n=52), and patients with abnormal karyotype who had loss of sex chromosomes (Group C, n=28). Prognosis was compared between the three groups.</p><p><b>RESULTS</b>The 5-year event-free survival (EFS) rates of Groups A, B, and C were (38.9±11.2)%, (59.3±7.3)%, and (66.5±10.5)%, respectively; the EFS of Group C was significantly higher than that of Group A (P=0.035). The 5-year overall survival (OS) rates of Groups A, B, and C were (54.3±13.5)%, (68.1±7.7)%, and (77.9±9.8)%, respectively (P>0.05). The 5-year EFS of 58 patients with t(8;21) was (63.3±7.3)%, significantly higher than that of patients with normal karyotype (P=0.015). All the 28 cases in Group C had t(8;21), and their 5-year EFS was not significantly different from that of patients with t(8;21) in Group B (P>0.05).</p><p><b>CONCLUSIONS</b>Loss of sex chromosomes is a favorable karyotype in children with AML M2 subtype and the patients in this group mostly have t(8;21). Why loss of sex chromosomes indicates a favorable prognosis is probably because it is accompanied by t(8;21) in the patients.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Chromosomes, Human, Pair 21 , Chromosomes, Human, Pair 8 , Female , Humans , Karyotype , Leukemia, Myeloid, Acute , Genetics , Mortality , Male , Prognosis , Sex Chromosome Aberrations , Translocation, Genetic
16.
Chinese Journal of Pediatrics ; (12): 198-202, 2015.
Article in Chinese | WPRIM | ID: wpr-254731

ABSTRACT

<p><b>OBJECTIVE</b>To apply single nucleotide polymorphism (SNP) microarray for delineation of small supernumerary marker chromosome (sSMC) in two newborns.</p><p><b>METHOD</b>Chromosome karyotyping was performed on newborns who were born in Jan. 2013 and Jan. 2014 in Haidian Maternal and Child Health Hospital because of the abnormalities found in pregnancy checkups. SNP microarray analysis was carried out on 2 newborns with de novo sSMCs (one was mos 47,XY, + mar[45]/46,XY[5] and the other was mos 47, XY, + mar [30]/46, XY [20]), which could not be determined by conventional banding techniques. Genomic DNA was extracted from cord blood samples, amplified, tagged and hybridized following the manufacturer' s protocol. Data were collected and analyzed.</p><p><b>RESULT</b>There was a 78. 6 Mb duplication in chromosome 8 for Newborn A, which was associated with 8p22 duplication syndrome; and a 32. 7 Mb duplication in chromosome 13 for Newborn B, which was not yet reported definitely as pathogenic. The newborn A was identified with agenesis of the corpus callosum, obvious right eyelid drooping, the onset of low muscle tone and mental developmental lag behind their peers, while the newborn B had normal findings on physical and mental evaluation.</p><p><b>CONCLUSION</b>SNP-array can identify sSMCs of newborns at the DNA level, and can be used as an important supplement to the conventional karyotype analysis, but the pathogenicity of positive outputs need further verification.</p>


Subject(s)
Chromosome Duplication , Chromosomes, Human, Pair 8 , Genetic Markers , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Karyotyping , Oligonucleotide Array Sequence Analysis , Polymorphism, Single Nucleotide
17.
Article in Chinese | WPRIM | ID: wpr-288051

ABSTRACT

<p><b>OBJECTIVE</b>To identify the candidate chromosomal region for congenital preauricular fistula (CPF) through analysis of an affected Chinese family.</p><p><b>METHODS</b>Conventional linkage analysis using short tandem repeats (STR) markers was performed to investigate three chromosomal regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q31.3.</p><p><b>RESULTS</b>None of 16 STRs could attain a LOD score of more than -2.0 (theta=0). Therefore, the three regions were all excluded as the candidate region for the disease.</p><p><b>CONCLUSION</b>CPF features high genetic heterogeneity. The family may have a causative gene elsewhere. Whole-genome-based study is needed to identify its genetic etiology.</p>


Subject(s)
Adult , Asian Continental Ancestry Group , Genetics , China , Chromosomes, Human, Pair 1 , Genetics , Chromosomes, Human, Pair 14 , Genetics , Chromosomes, Human, Pair 8 , Genetics , Craniofacial Abnormalities , Genetics , Female , Humans , Lod Score , Male , Microsatellite Repeats , Pedigree
18.
Article in Chinese | WPRIM | ID: wpr-288036

ABSTRACT

<p><b>OBJECTIVE</b>To explore the value of next-generation sequencing for the non-invasive prenatal testing of fetal chromosomal aneuploidies.</p><p><b>METHODS</b>Plasma from 4004 women with singleton pregnancy at a gestational age between 12-35(+5) weeks was collected prior to amniocentesis between April 19th 2011 and December 31st 2013. The samples were divided into three groups: (1) High risk for Down syndrome by biochemical screening; (2) Advanced maternal age; (3) Abnormalities by ultrasound or other methods. Plasma DNA extracted from above samples was sequenced at low coverage. Positive results were verified against the karyotypes of the fetuses. For those with negative results, the fetuses were followed up by telephone call for at least six months after birth.</p><p><b>RESULTS</b>Among 4003 samples subjected to non-invasive prenatal diagnosis, 66 (1.65%) had a positive result. In group 1, 22 cases of trisomy 21 (T21), 3 cases of trisomy 18 (T18), 1 case of 13 trisomy (T13), 8 cases of 45,X and 2 cases of other chromosomal abnormality were detected. In group 2, 13 cases of T21, 2 cases of T18, 1 case of T13, 5 cases of 45,X, 2 cases of 47,XXN and 1 case of other chromosomal abnormality were detected. In group 3, 1 case of T21, 1 case of T18, 1 case of T13, and 3 cases of 47,XXN were detected. For 55 samples underwent prenatal diagnosis, 30 cases of T21 and 4 cases of T18 were discovered, which was consistent with the results of non-invasive prenatal diagnosis. For the 13 cases indicated as 45,X, 3 were verified by karyotype analysis, 2 were verified as mosaicism (45,X/46,XN), 8 were 46,XN (false positives). For the 5 cases indicated as 47,XXN, 2 were verified by karyotype analysis, the other 3 were 46,XN (false positives). Karyotypes of 3 cases suspected for other chromosomal abnormalities were all verified as 46,XN (false positive). Until May 1st 2014, telephone follow-up for those with negative screening results only identified a boy with facial abnormalities and developmental delay, which was similar to his older sister, combined karyotyping and fluorescence in situ hybridization analysis has verified the karyotype of the boy as 46,XY,rec(14)dup(14q)inv(14)(p12q14)pat.</p><p><b>CONCLUSION</b>Our results indicated that sequencing of plasma free DNA can rapidly detect fetal chromosomal aneuploidies. The method is non-invasive, and the results are highly consistent with karyotype analysis in terms of accuracy and specificity. Non-invasive testing can be used as an effective adjunct to conventional prenatal diagnostic methods, which can greatly reduce unnecessary invasive prenatal diagnosis. However, the sensitivity and accuracy for aneuploidy detection other than chromosome 13/18/21 still need to be improved.</p>


Subject(s)
Adult , Aneuploidy , Asian Continental Ancestry Group , Genetics , China , Chromosomes, Human, Pair 18 , Genetics , Chromosomes, Human, Pair 21 , Genetics , Chromosomes, Human, Pair 8 , Genetics , Down Syndrome , Diagnosis , Embryology , Genetics , Female , Fetal Diseases , Diagnosis , Genetics , High-Throughput Nucleotide Sequencing , Methods , Humans , Infant , Male , Pedigree , Pregnancy , Prenatal Diagnosis , Methods
19.
Article in Chinese | WPRIM | ID: wpr-288009

ABSTRACT

OBJECTIVE To explore the clinical and laboratory features of a patient with 8p11 myeloproliferative syndrome (EMS) and CEP110-FGFR1 fusion. METHODS Combined bone marrow cytology, fluorescence in situ hybridization, fusion gene detection was used to analyze the patient. RESULTS Clinically, the patient had many features similar to those with chronic myelomonocytic leukemia, which included hyperleukocytosis, marked eosinophilia, monocytosis, myeloid hyperplasia and hyperplasia. Fluorescence in situ hybridization analysis for FGFR1 gene rearrangement was positive. Further study of the mRNA also confirmed an in-frame fusion between exon 38 of the CEP110 gene and exon 9 of FGFR1 gene. CONCLUSION EMS with CEP110-FGFR1 fusion is a very rare and distinct myeloproliferative neoplasm. FISH and molecular studies may improve its diagnosis.


Subject(s)
Cell Cycle Proteins , Genetics , Chromosomes, Human, Pair 8 , Female , Humans , Middle Aged , Myeloproliferative Disorders , Genetics , Oncogene Proteins, Fusion , Genetics , Receptor, Fibroblast Growth Factor, Type 1 , Genetics
20.
Article in Chinese | WPRIM | ID: wpr-287979

ABSTRACT

<p><b>OBJECTIVE</b>To verify the diagnosis of Angelman syndrome(AS) in a proband in order to provide prenatal diagnosis for his family.</p><p><b>METHODS</b>Array comparative genome hybridization(array-CGH) and fluorescence in situ hybridization(FISH) on metaphase chromosomes were performed.</p><p><b>RESULTS</b>The karyotype of the proband was normal, and a regional deletion of 15q11.1-11.2 was detected by array-CGH. FISH analysis has confirmed loss of heterozygosity in 15q11.2. No positive results were obtained by array-CGH or karyotype analysis. Amniotic fluid sample was taken from the proband's mother upon her subsequent pregnancy. The karyotype of the fetus was normal, but SNP microarray chip analysis has identified loss of heterozygosity in 8p23.1-p22. As no abnormality was observed by ultrasound and other prenatal examinations, the pregnancy was recommended to continue to full-term, and a healthy infant was born.</p><p><b>CONCLUSION</b>Clinically suspected AS can be diagnosed by array-CGH and FISH. The result may facilitate accurate genetic counseling and prenatal diagnosis for the affected family.</p>


Subject(s)
Adult , Angelman Syndrome , Diagnosis , Genetics , Chromosome Aberrations , Chromosome Deletion , Chromosomes, Human, Pair 15 , Genetics , Chromosomes, Human, Pair 8 , Genetics , Comparative Genomic Hybridization , Female , Fetal Diseases , Diagnosis , Genetics , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Karyotyping , Loss of Heterozygosity , Oligonucleotide Array Sequence Analysis , Polymorphism, Single Nucleotide , Pregnancy , Pregnancy Outcome , Prenatal Diagnosis , Methods
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