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1.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781291

RESUMO

OBJECTIVE@#To assess the application value of chromosomal microarray analysis (CMA) for prenatal diagnosis of fetus with ultrasound abnormalities.@*METHODS@#For 293 fetuses with ultrasound abnormalities (including 168 with structural abnormalities and 125 with non-structured abnormalities) but no common chromosomal abnormalities, CMA assay was performed.@*RESULTS@#Sixteen pathogenic copy number variants (pCNVs) were detected by CMA with a detection rate of 5.46%. The detection rates were 5.95% (10/168) for those with structural abnormalities and 4.80% (6/125) for those with non-structural abnormalities.@*CONCLUSION@#Compared with conventional karyotyping analysis, CMA can improve the detection of fetal chromosomal abnormality and provide an effective means for prenatal diagnosis.


Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Variações do Número de Cópias de DNA , Feminino , Feto , Anormalidades Congênitas , Humanos , Análise em Microsséries , Padrões de Referência , Gravidez , Diagnóstico Pré-Natal , Métodos , Ultrassonografia Pré-Natal
2.
Rev. chil. endocrinol. diabetes ; 13(3): 102-104, 2020.
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1116921

RESUMO

La función ovárica depende de la expresión de múltiples genes, por lo que las anomalías del cromosoma X y los autosomas revisten gran importancia en la etiología de la insuficiencia ovárica primaria (IOP). Las translocaciones de autosomas en mujeres con IOP son muy raras y solo se han detectado tres casos: dos translocaciones entre los cromosomas 2 y 15 en dos mujeres con cariotipo 46, XX, t (2, 15) (q32.3, q13.3)2; una translocación entre los cromosomas 13 y 14 en una mujer con cariotipo 45, XX, t (13; 14)3; por lo que nuestro caso sería el cuarto reporte de mujeres con translocaciones de autosomas e IOP.


Ovarian function depends on the expression of multiple genes, so Xchromosome abnormalities and autosomes are of great importance in the etiology of primary ovarian insufficiency (IOP). Autosomal translocations in women with IOP are very rare and only three cases have been detected: two translocations between chromosomes 2 and 15 in two women with karyotype 46, XX, t (2, 15) (q32.3, q13.3)2; a translocation between chromosomes 13 and 14 in a woman with karyotype 45, XX, t (13; 14)3 , so our case would be the fourth report of women with autosomal translocations and IOP.


Assuntos
Humanos , Feminino , Adulto , Aberrações Cromossômicas , Insuficiência Ovariana Primária/genética , Amenorreia/genética , Translocação Genética , Cariótipo
3.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-762462

RESUMO

BACKGROUND: JL1, a CD43 epitope and mucin family cell surface glycoprotein, is expressed on leukemic cells. An anti-JL1 antibody combined with a toxic substance can have targeted therapeutic effects against JL1-positive leukemia; however, JL1 expression on bone marrow (BM) lymphoma cells has not been assessed using flow cytometry. We investigated JL1 expression on BM lymphoma cells from patients with non-Hodgkin lymphoma (NHL) to assess the potential of JL1 as a therapeutic target. METHODS: Patients with BM involvement of mature B-cell (N=44) or T- and natural killer (NK)-cell (N=4) lymphomas were enrolled from May 2015 to September 2016. JL1 expression on BM lymphoma cells was investigated using flow cytometry. Clinical, pathological, and cytogenetic characteristics, and treatment responses were compared according to JL1 expression status. RESULTS: Of the patients with NHL and BM involvement, 37.5% (18/48) were JL1-positive. Among mature B-cell lymphomas, 100%, 38.9%, 33.3%, 100%, and 25.0% of Burkitt lymphomas, diffuse large B-cell leukemias, mantle cell leukemias, Waldenstrom macroglobulinemia, and other B-cell lymphomas, respectively, were JL1-positive. Three mature T- and NK-cell NHLs were JL1-positive. JL1 expression was associated with age (P=0.045), complete response (P=0.004), and BM involvement at follow-up (P=0.017), but not with sex, performance status, the B symptoms, packed marrow pattern, cytogenetic abnormalities, or survival. CONCLUSIONS: JL1 positivity was associated with superior complete response and less BM involvement in NHL following chemotherapy.


Assuntos
Linfócitos B , Medula Óssea , Linfoma de Burkitt , Aberrações Cromossômicas , Citogenética , Tratamento Farmacológico , Citometria de Fluxo , Seguimentos , Humanos , Leucemia , Leucemia de Células B , Linfoma , Linfoma de Células B , Linfoma não Hodgkin , Glicoproteínas de Membrana , Mucinas , Usos Terapêuticos , Macroglobulinemia de Waldenstrom
4.
Cuad. Hosp. Clín ; 60(1): 37-40, jun. 2019. ilus.
Artigo em Espanhol | LILACS (Américas), LIBOCS | ID: biblio-1006870

RESUMO

La trisomía 9 es una enfermedad rara, que ha sido descrita por primera vez en 1970, a la fecha existen más de 150 casos reportados, caracterizados por dismorfias faciales, anomalías congénitas y retraso en el desarrollo psicomotor y/o discapacidad intelectual. Este es el primer caso reportado en nuestra población en un infante de sexo masculino con peso y talla bajos, fisura labiopalatina y retraso madurativo en varias áreas del desarrollo, en quien el cariotipo mostró un mosaico cromosómico con el 70% de sus células con la trisomía del cromosoma 9. El asesoramiento genético en estos casos es de vital importancia para orientar a los padres sobre posibles causas y explicar sobre la condición genética, su manejo y establecer pautas de seguimiento para hacer prevención terciaria


Assuntos
Humanos , Masculino , Pré-Escolar , Trissomia/patologia , Cariótipo , Anormalidades Congênitas , Corantes Azur , Aberrações Cromossômicas
5.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-819035

RESUMO

OBJECTIVE@#To conduct genetic analysis in a fetus with complex translocation of four chromosomes.@*METHODS@#G-banded chromosome karyotype analysis, single nucleotide polymorphism array (SNP array) and fluorescence hybridization (FISH) were performed in a fetus with multiple malformations. Peripheral blood chromosome karyotype and FISH were also carried out for the parents.@*RESULTS@#The fetal amniotic fluid karyotype was 46, XY, t(12; 13)(q22; q32). SNP array analysis showed that there were 20 192 kb duplication at 1q42.13q44 and 13 293 kb deletion at 15q26.1q26.3 in the fetus. The results of karyotype and SNP array were inconsistent. FISH analyses on the parental peripheral blood samples demonstrated that the mother was a cryptic 46, XX, t(1; 15)(q42.1; q26.1) translocation. The fetus had inherited 46, XY, t(12; 13)(q22; q32) from his father and der(15)t(1; 15)(q42.1; q26.1) from his mother.@*CONCLUSIONS@#The 1q42.13q44 duplication and 15q26.1q26.3 deletion may have contributed to the abnormal sonographic features of the fetus. The combination of cytogenetic, SNP array and FISH techniques was beneficial for providing an accurate genetic counseling.


Assuntos
Aberrações Cromossômicas , Feminino , Feto , Anormalidades Congênitas , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Polimorfismo de Nucleotídeo Único , Translocação Genética
6.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-819032

RESUMO

OBJECTIVE@#To assess the clinical application of single nucleotide polymorphism microarray (SNP array) in prenatal genetic diagnosis for fetuses with absent nasal bone.@*METHODS@#Seventy four fetuses with absent nasal bone detected by prenatal ultrasound scanning were recruited from Women's Hospital, Zhejiang University School of Medicine during June 2015 and October 2018. The chromosome karyotypes analysis and SNP array were performed. The correlation between absent fetal nasal bone and chromosome copy number variants was analyzed.@*RESULTS@#Among 74 fetuses, 19 were detected to have chromosomal abnormalities, including 16 cases of trisomy-21, 1 case of trisomy-18 and two cases of micro-deletion/duplication. Among 46 cases with isolated absence of nasal bone, 3 had trisomy-21, and 1 had a micro-duplication. Absence of nasal bone in association with nuchal translucency thickening had a higher rate of abnormal karyotypes compared with isolated absence of nasal bone (=32.27,<0.01).@*CONCLUSIONS@#Fetuses with absent nasal bone and nuchal translucency thickening are likely to have chromosome abnormalities, and SNP array testing is recommended to exclude the chromosome abnormalities.


Assuntos
Aberrações Cromossômicas , Feminino , Feto , Humanos , Osso Nasal , Anormalidades Congênitas , Análise de Sequência com Séries de Oligonucleotídeos , Padrões de Referência , Polimorfismo de Nucleotídeo Único , Genética , Gravidez , Primeiro Trimestre da Gravidez , Diagnóstico Pré-Natal , Métodos
7.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-819031

RESUMO

OBJECTIVE@#To assess the clinical application of single nucleotide polymorphism microarray (SNP array) in patients with intellectual disability/developmental delay(ID/DD).@*METHODS@#SNP array was performed to detect genome-wide DNA copy number variants (CNVs) for 145 patients with ID/DD in Women's Hospital, Zhejiang University School of Medicine from January 2013 to June 2018. The CNVs were analyzed by CHAS software and related databases.@*RESULTS@#Among 145 patients, pathogenic chromosomal abnormalities were detected in 32 cases, including 26 cases of pathogenic CNVs and 6 cases of likely pathogenic CNVs. Meanwhile, 18 cases of uncertain clinical significance and 14 cases of likely benign were identified, no significant abnormalities were found in 81 cases (including benign).@*CONCLUSIONS@#SNP array is effective for detecting chromosomal abnormalities in patients with ID/DD with high efficiency and resolution.


Assuntos
Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Estudo de Associação Genômica Ampla , Humanos , Deficiência Intelectual , Diagnóstico , Genética , Análise de Sequência com Séries de Oligonucleotídeos , Padrões de Referência , Polimorfismo de Nucleotídeo Único
8.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-772031

RESUMO

OBJECTIVE@#To delineate laboratory and clinical characteristics of a case with chronic myelogenous leukemia (CML) and co-occurrence of t(9;22)(q34;q11) and t(8;21)(q22;q22).@*METHODS@#The patient was subjected to cytogenetic, molecular, morphological and immunophenotypic analyses.@*RESULTS@#Cytogenetic analysis revealed presence of t(8;21)(q22;q22) in addition to t(9;22)(q34;q11) in the patient. Chimeric BCR/ABL and AML1/ETO genes were detected by fluorescence in situ hybridization (FISH). Transcripts of BCR/ABL210 and AML1/ETO fusion genes were detected by relative quantity PCR. Morphological study suggested that the patient was at the chronic phase of CML. No significant immunophenotypic abnormality was detected by flow cytometry.@*CONCLUSION@#Co-occurrence of t(8;21)(q22;q22) and t(9;22)(q34;q11) is rare in CML. Only 5 similar cases have been described previously. This case suggested that chromosomal alterations may precede morphological, flow cytometric and clinical changes and accelerate progression of the disease.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos , Proteínas de Fusão bcr-abl , Humanos , Hibridização in Situ Fluorescente , Leucemia Mielogênica Crônica BCR-ABL Positiva , Genética , Translocação Genética
9.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-772020

RESUMO

OBJECTIVE@#To explore the genetic basis and pregnancy outcome of fetuses with urinary system anomalies.@*METHODS@#Ultrasonographic features, genetic testing and pregnancy outcomes of 337 fetuses with urinary system anomalies identified by prenatal ultrasonograhy were collected for analysis.@*RESULTS@#Ultrasonographic features of the fetuses were mainly characterized by hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia. Thirty four fetuses (10.1%) were found to harbor a genetic defect, including 14 numerical chromosomal disorders, 10 structural chromosomal aberrations, and 10 pathogenic copy number variations (CNVs). In 31 cases, the parents elected induced labor. For the 303 fetuses with negative findings, 142 were born by spontaneous delivery or Caesarean section, 48 cases underwent induced labor, 1 case had miscarriage, and the remaining 112 cases had unknown or missed pregnancy outcomes.@*CONCLUSION@#Hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia are the most common findings among fetuses with urinary system anomalies. Approximately 10.1% of such fetuses are positive by genetic testing.


Assuntos
Cesárea , Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Feminino , Feto , Testes Genéticos , Humanos , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
10.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771997

RESUMO

OBJECTIVE@#To study the correlation of hematomorphology, bone marrow cytogenetics and clinical biochemical parameters with the prognosis of non-Hodgkin's lymphoma with bone marrow invasion.@*METHODS@#Morphological analysis of bone marrow cells was performed by routine bone marrow puncture.Chromosome samples were prepared by short-term bone marrow culture. Karyotype analysis was carried out by R-banding in 28 patients. P53 gene was detected by fluorescence in situ hybridization (FISH). Serum lactate dehydrogenase (LDH) of all patients was determined and compared.@*RESULTS@#In all patients, bone marrow morphology showed invasion of lymphoma. Chromosome analysis revealed abnormal karyotypes in 19 cases, which yielded an incidence of 67.85%. The proportion of lymphoma cells in bone marrow among those with an abnormal karyotype was much higher than those with a normal karyotype (60.2% vs. 33.5%, P<0.05). FISH assay showed that 9 (32.14%) patients had P53 gene deletion. And the deletion was much more common among those with an abnormal karyotype (42.11% vs. 11.11%, P<0.05). The serum LDH level in patients with an abnormal karyotype was significantly higher compared with whose with a normal karyotype (1464.37 U/L vs. 294.33 U/L, P<0.05).@*CONCLUSION@#Patients with abnormal karyotypes have a higher rate of P53 gene deletion, and their LDH level is significantly higher than those with a normal karyotype, which predicted a relatively poor prognosis.


Assuntos
Adulto , Medula Óssea , Criança , Aberrações Cromossômicas , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Linfoma não Hodgkin
11.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771975

RESUMO

OBJECTIVE@#To assess the value of copy number variation analysis based on next generation sequencing (CNV-seq) in prenatal diagnosis for women at advanced maternal age.@*METHODS@#A prospective analysis was carried out for women who underwent amniocentesis at 18~36 weeks of gestation for fetal CNV-seq for advanced maternal age.@*RESULTS@#For 1461 unrelated Chinese women with a singleton pregnancy, CNV-seq was performed for all samples successfully. The proportion of chromosomal abnormalities was 2.3% (34/1461), of which 44.12% were submicroscopic copy number variations (<5 Mb).@*CONCLUSION@#Pregnant women at an advanced maternal age should be informed for not only common trisomies but all pathogenic chromosomal aberrations. NGS was a sensitive and accurate approach for detecting CNVs.


Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Variações do Número de Cópias de DNA , Feminino , Humanos , Idade Materna , Gravidez , Diagnóstico Pré-Natal , Estudos Prospectivos
12.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771974

RESUMO

OBJECTIVE@#To explore the suitable process for prenatal screening and diagnosis for women with advanced maternal age.@*METHODS@#From January 2014 to November 2017, the indications and distributions of prenatal diagnosis for women with advanced maternal age only or accompanying with positive maternal serum test screening and non-invasive prenatal testing (NIPT), abnormal fetal ultrasound, one harboring chromosomal abnormalities or anomalous reproductive history were analyzed. The rate of fetal chromosomal abnormalities was compared between different groups.@*RESULTS@#The 351 pregnant women with fetal chromosomal abnormalities have included 196 cases with advanced maternal age, 26 with positive maternal serum test, 96 with high-risk by NIPT, 14 with abnormal fetal ultrasound, 15 with one partner harboring chromosomal abnormalities, and 4 with anomalous reproductive history. Assuming that all pregnant women had undergone maternal serum test screening or NIPT without amniocentesis, the detection rate of fetal chromosome abnormality would be 51.0% and 69.2%, respectively. However, should these women have received both tests, the detection rate would be as high as 84.6%. Should those with one partner harboring chromosomal abnormalities undergone maternal serum test screening or NIPT without amniocentesis, the detection rate of fetal chromosomal abnormality would only be 6.7%.@*CONCLUSION@#Should pregnant women with advanced maternal age undergo both maternal serum test and NIPT, the detection rate of fetal chromosomal abnormality will be higher than those receiving only maternal serum test screening or NIPT. Couples with one partner harboring chromosomal abnormalities should undergo prenatal diagnosis by amniocentesis.


Assuntos
Amniocentese , Aberrações Cromossômicas , Transtornos Cromossômicos , Feminino , Humanos , Idade Materna , Gravidez , Diagnóstico Pré-Natal
13.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771972

RESUMO

OBJECTIVE@#To explore the prevalence and characteristics of chromosomal abnormalities in abortuses during early pregnancy with single nucleotide polymorphism microarray (SNP-array).@*METHODS@#For 520 abortuses, copy number variations (CNVs) in chorionic villi were analyzed with SNP-array.@*RESULTS@#In 510 (98.1%) of the samples, the analysis was successful. Among these, 57.6% (294/510) of the samples were found to harbor clinically significant chromosomal abnormalities. 38.8% of the samples (198/510) had a normal result. 2.4% (12/510) of the samples harbored benign CNVs, and 1.2% (6/510) harbored variants of uncertain significance (VOUS). Aneuploidies, polyploidies, pathogenic CNVs and uniparental disomies (UPD) had accounted for 75.2% (221/294), 13.9% (41/294), 8.2% (24/294), and 2.7% (8/294) of the samples, respectively. 45,XO was the most common finding, which was followed by trisomy 16 and trisomy 22. 69,XXY was the most common polyploidy.@*CONCLUSION@#Chromosomal abnormalities are the main cause for early miscarriage, among which aneuploidies are most common. The prevalence of aneuploidies is significantly increased among women over 35. SNP-array analysis has the advantage of high success rate, high resolution and great accuracy, but the clinical significance of microdeletions/microduplications found by SNP-array can be difficult for interpretation.


Assuntos
Vilosidades Coriônicas , Aberrações Cromossômicas , Transtornos Cromossômicos , Variações do Número de Cópias de DNA , Feminino , Testes Genéticos , Humanos , Cariotipagem , Polimorfismo de Nucleotídeo Único , Gravidez
14.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771971

RESUMO

OBJECTIVE@#To characterize cytogenetic changes and prognosis of patients with acute myeloid leukemia (AML) from different age groups.@*METHODS@#The karyotypes of 515 AML patients were analyzed by using short-term culture of bone marrow cells and R-banding technique. Combined with FAB typing and genetic testing, cytogenetic changes and prognosis of different age groups were analyzed.@*RESULTS@#The abnormal cloning rate was 54.6% among the 515 patients. The abnormal cloning rate and adverse risk karyotype proportion of those with myeloproliferative syndromes (MDS) and secondary AML were higher than those with de novo AML (P = 0.027; P<0.01). A significant difference was found in the number of structural abnormalities and proportion of favorable risk karyotypes among different age groups (P = 0.026; P = 0.004). And there was also a significant difference in the abnormal cloning rate between different FAB types (P<0.01). In those with non-acute promyelocytic leukemia (APL), the expression level of WT1 gene seemed to affect the prognosis. The survival rate of patients with karyotypes of adverse risk was lower than those with karyotypes of favorable risk (P = 0.015). The survival rate of the ≥60-year-old group was lower than the ≤30-year-old and 31 to 59-year-old groups (P<0.01, P<0.01).@*CONCLUSION@#The karyotypes of AML patients have different age distribution characteristics. The survival rate of ≥60-years-old group and karyotype of poor prognosis is low. Patients with MDS with secondary AML have a poor prognosis.


Assuntos
Adulto , Aberrações Cromossômicas , Análise Citogenética , Citogenética , Humanos , Cariótipo , Cariotipagem , Leucemia Mieloide Aguda , Pessoa de Meia-Idade , Síndromes Mielodisplásicas , Prognóstico
15.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771955

RESUMO

OBJECTIVE@#To explore the genetic etiology for a child with ocular dysplasia.@*METHODS@#Clinical examination was carried out. Medical history of the child was collected. Genomic DNA was extracted from peripheral blood samples. Chromosomal microarray analysis (CMA) was used to detect potential genomic copy number variations.@*RESULTS@#Ultrasonography revealed cataracts in both eyes of the child. MRI showed increased extracranial space, supratentorial ventricular dilatation, reduced white matter volume, increased T2WI signal and a large occipital cisterna. CMA showed that the patient carried a 249 kb microdeletion at Xq25q26.1 region, namely [hg19]arrXq25q26.1 (128 652 372 - 128 901 629)×0.@*CONCLUSION@#The child was diagnosed with Lowe syndrome, for which the 249 kb microdeletion at Xq25q26.1 is probably accountable.


Assuntos
Criança , Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Humanos , Análise em Microsséries , Síndrome Oculocerebrorrenal
16.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771941

RESUMO

OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) for the analysis of abortic tissues.@*METHODS@#A total of 242 samples of spontaneous abortion were collected and tested by CMA or NGS.@*RESULTS@#The detection was successfully in 238 cases (98.35%). In total 143 cases of chromosomal abnormalities were detected, which accounted for 60.08% of all cases. Numerical chromosomal abnormalities were found in 133 cases(93.01%), structural abnormalities were found in 9 cases (6.29%), and uniparental disomy was found in 1 case(0.70%).@*CONCLUSION@#Both CMA and NGS have the advantages of high-throughput, good coverage, high resolution and rapid analysis. They can be used for the detection of the causes of spontaneous abortions. CMA is more useful for the detection of aneuploidies and uniparental disomy, while NGS has advantages in its throughput, capacity in detecting low percentage chimerism and cost, which can provide more options for clinicians.


Assuntos
Aborto Espontâneo , Genética , Aberrações Cromossômicas , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Análise em Microsséries , Gravidez
17.
Journal of Experimental Hematology ; (6): 1717-1721, 2019.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781407

RESUMO

OBJECTIVE@#To investigate the efficacy and prognosis of acute myeloid leukemia (AML) patients with chromosome karyotype abnormalities.@*METHODS@#The clinical features and treatment responses of 91 patients with AML were collected and analyzed retrospectively. The efficacy and survival rate of the AML patients with normal and abnormal chromosome karyotype were compared.@*RESULTS@#Chromosome translocations and monosomal karyotypes were the main heterogeneity of AML. There was no significant difference in complete remission rate and overall response rate between the normal and abnormal karyotype groups, but the recurrence rate was higher in abnormal karyotype group. There was no significant difference in response of AML patients received the standard "3+7 regimen" and pre-excitation chemotherapy in the treatment of normal and abnormal karyotype groups. The relapse free survival time (RFS) was longer in the normal karyotype group, but there was no significant difference in overall survival time (OS).@*CONCLUSION@#The abnormal karyotype of AML is an independent prognostic factor, monosomal karyotype shows a poor prognosis, and the recurrence rate in AML patients with monosomal karyotype is higher.


Assuntos
Adulto , Aberrações Cromossômicas , Humanos , Cariótipo , Cariotipagem , Leucemia Mieloide Aguda , Prognóstico , Estudos Retrospectivos
18.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781324

RESUMO

OBJECTIVE@#To apply high-throughput whole genome sequencing (WGS) and short tandem repeat (STR) typing to detect aneuploidies, heteroploidies and copy number variations(CNVs) in spontaneous abortic tissues.@*METHODS@#Chorionic villus samples from 145 patients with spontaneous abortion were subjected to detection of aneuploidies, heteroploidies and copy number variations by WGS and STR typing.@*RESULTS@#All testing was successful and the rate of chromosomal abnormalities among the patients was 22.07%. Among these, there were 11 trisomies, 3 monosomies, 2 triploidies, 5 autosomal mosaicisms, 4 sex chromosomal mosaicisms, 7 structural abnormalities (including 1 mosaicism). In 89 cases, there were 130 CNVs of uncertain significance, 47 likely benign CNVs, and 2 loss of one copy of pathogenic AR gene. One sample contained 6 fragment duplications and deletions. Only 24 samples had no abnormal finding.@*CONCLUSION@#The most important reason for spontaneous abortions is embryonic chromosomal abnormality. Combined STR typing and WGS is both comprehensive and fast, and may become a major means for the detection of chorionic villi tissue from spontaneous abortions.


Assuntos
Aborto Espontâneo , Genética , Coreia , Genética , Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Feminino , Humanos , Repetições de Microssatélites , Gravidez , Sequenciamento Completo do Genoma
19.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781311

RESUMO

OBJECTIVE@#To explore the clinical significance of a prenatal case with two small supernumerary marker chromosomes (sSMC) through identification of their origins.@*METHODS@#G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peripheral blood samples from both patients. Fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-array (SNP-array) were used to analyze the component and size of the sSMCs.@*RESULTS@#The karyotype of the fetus was determined as 47, XX, +mar[53]/48, XX, +2 mar[31]/46, XX[14]. SNP-array has revealed four copies of chromosome 2q11.1q11.2 with a size of 2.6 Mb and three copies of 10p11.23q11.23 with a size of 20.6 Mb. The results was confirmed by FISH.@*CONCLUSION@#A rare chromosomal abnormality with two sSMCs was identified by combined karyotype analysis, SNP-array and FISH, which provided valuable information for prenatal diagnosis.


Assuntos
Aberrações Cromossômicas , Bandeamento Cromossômico , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Polimorfismo de Nucleotídeo Único , Gravidez , Diagnóstico Pré-Natal
20.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765003

RESUMO

BACKGROUND: Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal plasma for fetal aneuploidy identification is expanding worldwide. The objective of this study was to evaluate the clinical utility of NIPT for the detection of trisomies 21, 18, and 13 of high-risk fetus in a large Korean population. METHODS: This study was performed retrospectively, using stored maternal plasma from 1,055 pregnant women with singleton pregnancies who underwent invasive prenatal diagnosis because of a high-risk indication for chromosomal abnormalities. The NIPT results were confirmed by karyotype analysis. RESULTS: Among 1,055 cases, 108 cases of fetal aneuploidy, including trisomy 21 (n = 57), trisomy 18 (n = 42), and trisomy 13 (n = 9), were identified by NIPT. In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomy 21, and 92.9% sensitivity and 100% specificity for trisomy 18, and 100% sensitivity and 99.9% specificity for trisomy 13. The overall positive predictive value (PPV) was 98.1%. PPVs for trisomies 21, 18, and 13 ranged from 90.0% to 100%. CONCLUSION: This study demonstrates that our NIPT technology is reliable and accurate when applied to maternal DNA samples collected from pregnant women. Further large prospective studies are needed to adequately assess the performance of NIPT.


Assuntos
Aneuploidia , Aberrações Cromossômicas , DNA , Síndrome de Down , Feminino , Feto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cariótipo , Plasma , Gravidez , Gestantes , Diagnóstico Pré-Natal , Estudos Prospectivos , Estudos Retrospectivos , Sensibilidade e Especificidade , Trissomia
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