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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 1031-1034, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598954

RESUMO

OBJECTIVE: To emphasize the clinical significance of copy number variations (CNVs) detection by describing a case misdiagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis. METHODS: A girl with obesity and short stature was diagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis. Considering the discrepancy of her karyotype with her phenotype, genomic CNVs was detected by next-generation sequencing and the result was verified by quantitative PCR (qPCR). RESULTS: A microduplication of 16p11.2: 29 642 339-29 775 631 (133.292 kb) was detected. qPCR assay for QPRT and SPN located in the duplicated region confirmed the finding of CNVs assay. Meanwhile, her parents did not present similar duplication in 16p11.2. CONCLUSION: The 16p11.2 microduplication was a novel genomic structural variation in the girl, though it may not be associated with her clinical manifestations. Chromosomal microarray or next-generation sequencing-based CNVs detection can accurately determine the origin of small supernumerary marker chromosome and reduce the chance of misdiagnosis.


Assuntos
Cromossomos Humanos Par 21/genética , Erros de Diagnóstico , Síndrome de Down , Cariotipagem , Trissomia/diagnóstico , Bandeamento Cromossômico , Variações do Número de Cópias de DNA , Feminino , Humanos
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 813-816, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400135

RESUMO

OBJECTIVE: To carry out prenatal diagnosis for a fetus with ultrasonographic abnormality. METHODS: Chromosomal karyotyping and array comparative genomic hybridization (array-CGH) analysis were applied for the diagnosis. Peripheral blood samples were also taken from the parents for chromosome karyotyping analysis. RESULTS: The fetal karyotype showed additional material of unknown-origin attached to Yq. Array CGH analysis confirmed that the material was derived from 3q22.1q29. The father was found to carry a balanced translocation 46, X, t(Y;3)(q12;q23) (which was diagnosed as 46,XY,Y≥18 elsewhere), whilst the mother was found to be normal. CONCLUSION: 3q partial trisomy may present as malformation of multiple systems. Combination of chromosome karyotyping and array-CGH can provide reliable diagnosis for fetuses with abnormalities by ultrasonography.


Assuntos
Cromossomos Humanos Par 3/genética , Diagnóstico Pré-Natal , Trissomia , Hibridização Genômica Comparativa , Feminino , Feto , Humanos , Cariotipagem , Masculino , Gravidez
3.
Zhonghua Xue Ye Xue Za Zhi ; 40(6): 507-511, 2019 Jun 14.
Artigo em Chinês | MEDLINE | ID: mdl-31340625

RESUMO

Objective: To analyze clonal evolution and clinical significance of trisomy 8 in patients with acquired bone marrow failure. Methods: The clinical data of 63 patients with acquired bone marrow failure accompanied with isolated trisomy 8 (+8) from June 2011 to September 2018 were analyzed retrospectively, the clonal evolution patterns and relationship with immmunosuppressive therapy were summarized. Results: Totally 24 male and 39 female patients were enrolled, including 39 patients with aplastic anemia (AA) and 24 patients with relatively low-risk myelodysplastic syndrome (MDS) . Mean size of+8 clone in MDS patients[65% (15%-100%) ]was higher than that of AA patients[25% (4.8%-100%) , z=3.48, P=0.001]. The patients were was divided into three groups (<30%, 30%-<50%,and ≥50%) according to the proportion of+8 clone. There was significant difference among the three groups between AA[<30%:55.6% (20/36) ; 30-50%: 22.2% (8/36) ; ≥50%22.2% (8/36) ]and MDS patients[<30%:19.0% (4/21) ; 30%-<50%:19.0% (4/21) ; ≥50%61.9% (13/21) ] (P=0.007) . The proportion of AA patients with+8 clone <30% was significantly higher than that of MDS patients (P=0.002) ; and the proportion of AA patients with+8 clone ≥50%was significantly lower than that of MDS patients (P=0.002) . The median age of AA and MDS patients was respectively 28 (7-61) years old and 48.5 (16-72) years old. Moreover, there was no correlation between age and+8 clone size in AA or MDS (r(s)=0.109, P=0.125; r(s)=-0.022, P=0.924, respectively) . There was statistical difference in total iron binding capacity, transferrin and erythropoietin between high and low clone group of AA patients (P=0.016, P=0.046, P=0.012, respectively) , but no significant difference in MDS patients. The immunosuppressive therapy (IST) efficacy of AA and MDS patients was respectively 66.7% and 43.8% (P=0.125) . Comparing with initial clone size (27.3%) , the +8 clone size (45%) of AA patients was increased 1-2 year after IST, but no statistical difference (z=0.83, P=0.272) . Consistently, there was no significant change between initial clone size (72.5%) and 1-2 year clone size (70.5%) after IST in MDS patients. There was no significant difference in IST efficient rate between +8 clone size expansion and decline group of in AA patients at 0.5-<1, 1-2 and>2 years after IST. We found four dynamic evolution patterns of +8 clone, which were clone persistence (45%) , clone disappearance (30%) , clone emergence (10%) and clone recurrence (15%) . Conclusions: AA patients had a low clone burden, while MDS patients had a high burden of +8 clone. The +8 clone of AA patients didn't significantly expanded after IST, and the changes of +8 clone also had no effect on IST response.


Assuntos
Anemia Aplástica , Evolução Clonal , Adolescente , Adulto , Idoso , Medula Óssea , Criança , Cromossomos Humanos Par 8 , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Trissomia , Adulto Jovem
4.
Cuad. Hosp. Clín ; 60(1): 37-40, jun. 2019. ilus.
Artigo em Espanhol | LILACS, 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.
Z Geburtshilfe Neonatol ; 223(5): 297-303, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31132797

RESUMO

We aimed to configure impaired/altered metabolomic profiles of pregnant women carrying Down syndrome (DS) fetuses. The study involved 21 and 32 pregnant women with DS and euploid fetuses, respectively, as determined by prenatal screening and diagnosis as part of an antenatal care program. Metabolomic analyses were carried out using gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-quadrupole time-of-flight mass spectrometry (LC-qTOF-MS) methods. A total of 95 metabolites were identified. GC-MS analysis indicated that levels of 2-hydroxybutyric acid, benzoic acid, nonanoic acid, 3-hydroxybutyric acid, and 2-ketoisocaproic acid were increased in the DS group, where beta-alanine, threonic acid, oxalic acid, alpha-tocopherol, uracil, 2-piperidone, and creatinine were decreased. However, LC-qTOF-MS analysis showed that lipid-related metabolites were decreased in women carrying DS fetuses, whereas creatine, N4-phosphoagmatine, citrate, 2,5-dioxopentanoate, 2-furoate, pyruvate, and fructose levels were increased. Pathway analysis was also performed using metabolites whose levels were significantly altered (p<0.05) between the groups, and the findings indicated that the biosynthesis pathways of aminoacyl-tRNA and "valine-leucine-isoleucine", and metabolism pathways of "glycine-serine-threonine", nitrogen, "alanine-aspartate-glutamate", propanoate, glycerophospholipid, cysteine, methionine, and phenylalanine were significantly altered. Our findings indicate a special type of metabolic status/syndrome in pregnant women with Down syndrome fetuses. It could be speculated that altered metabolic status might influence both gametogenesis and embryogenesis. Down syndrome is a complex genetic disorder that is important to detect prenatally, but may also be prevented by taking necessary precautions prior to pregnancy.


Assuntos
Síndrome de Down , Cromatografia Gasosa-Espectrometria de Massas/métodos , Metabolômica , Diagnóstico Pré-Natal , Biomarcadores/sangue , Síndrome de Down/sangue , Síndrome de Down/diagnóstico , Feminino , Feto , Humanos , Metabolômica/métodos , Gravidez , Diagnóstico Pré-Natal/métodos , Trissomia/diagnóstico , Trissomia/genética
6.
Cytogenet Genome Res ; 158(2): 74-82, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31141803

RESUMO

Deletion of distal 9p is associated with a rare clinical condition characterized by dysmorphic features, developmental delay, and ambiguous genitalia. The phenotype shows variable expressivity and is related to the size of the deletion. 8q24 duplication has been reported in only few cases to date, all showing dysmorphic features and mild psychomotor developmental delay. A case of chromosomal aberration involving a 9p terminal deletion with an 8q duplication has never been reported. Here, we describe a child with a female phenotype, male karyotype, dysmorphic features, ambiguous genitalia, and developmental delay. In order to assess the cause of the patient's phenotype, conventional karyotyping, FISH, and a chromosomal microarray analysis were performed on the patient and her parents. The cytogenetic and molecular analysis revealed an unbalanced chromosomal aberration with a duplication in the long arm of chromosome 8 at 8q24.11q24.3 associated with a distal deletion in the short arm of chromosome 9 at 9p24.3p24.1, derived from a maternal balanced translocation. We compared the clinical picture of our patient with other similar cases reported in the literature and found that some clinical findings, such as strabismus, symphalangism of the first finger, and cubitus valgus, have never been previously associated with 9p deletion or 8q duplication expanding the phenotypic range of this condition. This study is aimed to better define the clinical history and prognosis of patients with this rare chromosomal aberration.


Assuntos
Cromossomos Humanos Par 9/genética , Deficiências do Desenvolvimento/genética , Disgenesia Gonadal 46 XY/genética , Trissomia/genética , Deleção Cromossômica , Mapeamento Cromossômico , Cromossomos Humanos Par 8/genética , Feminino , Humanos
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(6): 632-635, 2019 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-31055824

RESUMO

OBJECTIVE: To explore the phenotype and pathogenesis of a fetus with a rare chromosomal abnormality. METHODS: The fetus was analyzed by clinical prenatal ultrasonography, G-banding karyotyping and next generation sequencing (NGS). RESULTS: Prenatal ultrasonography of the fetus showed Dandy-Walker syndrome, growth restriction, and right-heart system dysplasia. The fetus had a chromosomal karyotype of 47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22). Duplication of 11q23.3q25 and 22q11.1q21 were also detected by NGS. The chromosomal translocation carried by the fetus was derived from his father. CONCLUSION: Duplications of chromosome 11q23.3q25 and 22q11.1q11.21 segments probably underlie the Dandy-Walker syndrome, growth restriction, and hypoplasia of the right heart system in the fetus.


Assuntos
Transtornos Cromossômicos , Trissomia , Cromossomos Humanos , Feminino , Feto , Humanos , Cariotipagem , Gravidez , Diagnóstico Pré-Natal , Translocação Genética
8.
Cytogenet Genome Res ; 157(3): 153-157, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30933946

RESUMO

Mosaic trisomy 12 is a rare anomaly, and only 9 cases of live births with this condition have been reported in the literature. The clinical phenotype is variable, including neuropsychomotor developmental delay, congenital heart disease, microcephaly, cutaneous spots, facial asymmetry, prominent ears, hypotonia, retinopathy, and sensorineural hearing loss. A 2-year-old female presented with neuropsychomotor developmental delay, prominent forehead, dolichocephaly, patchy skin pigmentation, and unexpected overgrowth at birth. Cytogenetic analysis of her peripheral blood showed normal results, suggesting the presence of a chromosomal alteration in other tissues. Further studies using G-banding and FISH performed on fibroblasts from both hyper- and hypopigmented regions identified a 47,XX,+12/46,XX karyotype. To the best of our knowledge, no patients with mosaic trisomy 12 associated with overgrowth have been reported to date. Congenital overgrowth and neonatal overgrowth have been frequently linked to Pallister-Killian syndrome (PKS; OMIM 601803). This case suggests the possibility of an association of genes present in the 12p region with fetal overgrowth, considering that chromosomal duplications could lead to an increase in the production of aberrant transcripts and disturbing gene dosage effects. This case highlights the importance of cytogenetic analysis in different tissues to provide relevant information to the specific genotype/phenotype correlation.


Assuntos
Cromossomos Humanos Par 12/genética , Fibroblastos/citologia , Trissomia/diagnóstico , Linhagem Celular , Pré-Escolar , Bandeamento Cromossômico , Transtornos Cromossômicos , Feminino , Fibroblastos/química , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Mosaicismo
9.
Cytogenet Genome Res ; 157(4): 220-226, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30939474

RESUMO

Trisomy 18p is a rarely observed chromosomal aberration. Only 31 cases have previously been described in the literature. Trisomy 18p is associated with mild to moderate phenotypic anomalies and intellectual disability. Here, we report on a pregnant woman in whom noninvasive prenatal testing indicated a high risk of fetal trisomy 18. Prenatal diagnosis and karyotyping of the parents were performed and demonstrated that both the mother and the fetus had a derivative chromosome 15 with a segment of unknown origin. Chromosomal microarray analysis and FISH revealed a 14.9-Mb duplication of 18p and detected 3 centromeres of chromosome 18. To our knowledge, this is the first study reporting trisomy 18p due to an unbalanced translocation of 18p onto chromosome 15q showing 2-generation transmission. The results suggest that trisomy 18p can be considered a euchromatic variant.


Assuntos
Cromossomos Humanos Par 15/genética , Deficiência Intelectual/genética , Diagnóstico Pré-Natal/métodos , Trissomia/genética , Cromossomos Humanos Par 18/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Análise de Sequência com Séries de Oligonucleotídeos , Gravidez , Translocação Genética , Adulto Jovem
10.
Genet Test Mol Biomarkers ; 23(4): 246-250, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30986102

RESUMO

AIMS: To determine the diagnostic precision of using different sets of fetal-specific methylation markers with methylation-sensitive restriction enzyme-quantitative polymerase chain reaction (MSRE-qPCR) for detection of trisomy 21 (T21). MATERIALS AND METHODS: The diagnostic value for trisomy 21 of differential methylation of HLCS, C21orf25, and RASSF1A (a fetal-specific internal control) was examined by MSRE-qPCR. RESULTS: The combined marker set of HLCS and RASSF1A achieved accurate quantification of fetal-specific chromosome 21 and was an excellent marker for detecting the presence of three copies of chromosome 21. MSRE-qPCR correctly identified three cases of fetal T21 from 11 clinical samples, which were 100% consistent with karyotyping results. In addition, this method was able to detect fetal-specific, T21-derived, cell-free fetal DNA at concentrations as low as 0.1%. CONCLUSIONS: Evaluation of the HLCS and RASSF1A fetal-specific methylation marker set by MSRE-qPCR could be a highly sensitive, specific, cost-effective, and noninvasive prenatal screening method for T21. This MSRE-qPCR testable marker should be considered as an alternative to next generation sequencing technology for diagnosing fetal T21.


Assuntos
Síndrome de Down/diagnóstico , Síndrome de Down/genética , Biomarcadores/metabolismo , Carbono-Nitrogênio Ligases/genética , Cromossomos Humanos Par 21/genética , Ilhas de CpG , DNA/análise , Metilação de DNA/genética , Epigênese Genética/genética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Masculino , Reação em Cadeia da Polimerase/métodos , Gravidez , Diagnóstico Pré-Natal/métodos , Trissomia , Proteínas Supressoras de Tumor/genética
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(5): 484-487, 2019 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-31030439

RESUMO

OBJECTIVE: To explore the genetic cause for a patient with intellectual disability, short stature and multiple congenital anomalies, and to correlate the result with the clinical phenotype. METHODS: Routine karyotyping analysis was carried out on GTG-banded metaphase chromosomes. Single nucleotide polymorphism (SNP) microarray was used to detect microdeletions or microduplications in the patient. Fluorescence in situ hybridization (FISH) was used to ascertain the origin of aberrant chromosomes. RESULTS: The karyotype of the patient was 46,XY,der(18), while both of his parents had a normal karyotype. SNP array identified a 1.23 Mb deletion at 18p11.32-pter (chr18: 136 227-1 370 501, hg19) and a 33.76 Mb duplication at 18q21.1-qter (chr18: 44 250 359-78 013 728, hg19) in the patient. Above finding was confirmed by dual-color FISH with one color for 18p and another for 18q. The patient presented with some common features of 18p deletion and 18q duplication including intellectual disability and growth retardation, in addition with some features of 18p deletion including pectus excavatum, short stature and growth hormone (GH) deficiency. The patient showed progressive improvement of stature with GH therapy. Comparison of patients with previously reported dup(18q)+del(18p) recombinations suggested that, even for patients with similar breakpoints, their phenotypes have ranged from normal to severe and there were no consistent findings. CONCLUSION: As aberrations involving double chromosomal segments often result in phenotypic variability, it has been difficult to correlate the genotype of our patient with his phenotype.


Assuntos
Anormalidades Múltiplas , Monossomia , Trissomia , Deleção Cromossômica , Cromossomos Humanos Par 18 , Genótipo , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Fenótipo
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(5): 488-490, 2019 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-31030440

RESUMO

OBJECTIVE: To use single nucleotide polymorphism microarray (SNP array) to screen whole genome copy number variations (CNVs) in a fetus with multiple malformation. METHODS: Amniotic fluid sample was subjected to routine G banding chromosomal analysis and CNVs detection, and its parents were tested in order to determine the origin of fetal chromosomal aberration. RESULTS: SNP array has detected a large fragment repetition spanning approximately 16 Mb in the 17q24.2-q25.3 region in the fetus. The karyotype of amniotic fluid was 46,XY,der(21),t(17;21)(q23;p12). The karyotype of the mother was normal, while its father has a karyotype of 46,XY,t(17;21)(q23;p12). CONCLUSION: The large repetition at 17q24.2-q25.3 probably underlies the multiple fetal malformation. Abnormal fetuses carrying apparently balanced chromosomal translocations may harbor CNVs outside the breakpoint regions involved in the rearrangements. SNP array has provided a useful supplement for the conventional G banding karyotyping analysis.


Assuntos
Variações do Número de Cópias de DNA , Trissomia , Bandeamento Cromossômico , Cromossomos Humanos , Feto , Humanos , Cariotipagem , Análise em Microsséries , Diagnóstico Pré-Natal
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(4): 322-326, 2019 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-30950017

RESUMO

OBJECTIVE: To analyze the clinical and molecular biological characteristics of a neonate with myeloid proliferation related to Down syndrome (DS). METHODS: The neonate, who was suspected for Down syndrome, was analyzed in terms of clinical feature, peripheral blood cell morphology, fluorescence in situ hybridization (FISH), immunological classification and other laboratory tests. On hundred and fourteen leukemia-related genes were subjected to next-generation sequencing (NGS). RESULTS: Laboratory test revealed obvious abnormal liver function and coagulation function, anemia, and extreme leukocytosis. Cell smear indicated significantly increased progenitor cells, which conformed to proliferation of megakaryocytes. FISH showed trisomy 21. By NGS, c.220+dupT, a novel mutation, was identified in exon 2 of the GATA1 gene, which encodes a N-terminal activation domain and has a frequency of 95.8%. No mutation was identified among the remaining 113 genes. CONCLUSION: The neonate had DS and GATA1 gene mutation. High percentage of circulating blasts should be considered as transient myelodysplasia but not congenital leukemia.


Assuntos
Síndrome de Down , Fator de Transcrição GATA1/genética , Síndrome de Down/genética , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Mutação , Trissomia
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(4): 336-339, 2019 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-30950020

RESUMO

OBJECTIVE: To determine the nature and origin of aberrant chromosomes in a child with multiple anomalies and psychomotor retardation. METHODS: Routine G-banding was carried out to analyze the karyotypes of the patient and his parents, and next generation sequencing for copy number variations (CNV-seq) was used for the fine mapping of the aberrant chromosomal regions. RESULTS: The proband and his uncle exhibited psychomotor retardation, craniofacial malformation, infantile external genitalia, and concealed penis. Cytogenetic analysis indicated that the child has a 46,XYqh+,+(9),t(9;13)(q13;q12),pat,-13 karyotype. His uncle was XYqh+,+(9),t(9;13)(q13;q12)mat,-13, his father was 46,XYqh+,t(9;13)(q13;q12)mat, his grandmother was 46,XX,t(9;13)(q13;q12), and his grandfather was 46,XYqh+. The result of CNV-seq assay for the child was 46,XY,+9p(pter-p13.2,-40 Mb×3). No deletion was detected. CONCLUSION: The partial trisomy 9 and partial monosomy 13 probably underlie the phenotypic abnormalities in the child. Combined chromosomal karyotyping and DNA sequencing can facilitate delineation of the nature and origin of the aberrant chromosomes.


Assuntos
Anormalidades Múltiplas , Trissomia , Criança , Deleção Cromossômica , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 9 , Variações do Número de Cópias de DNA , Humanos , Cariotipagem , Masculino , Monossomia , Linhagem , Translocação Genética
15.
Cancer Genomics Proteomics ; 16(3): 175-178, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31018948

RESUMO

BACKGROUND/AIM: The aim of the study was to determine the genetic and molecular consequences of trisomy 4, a recurrent but rare chromosomal abnormality in acute myeloid leukemia (AML). MATERIALS AND METHODS: Interphase fluorescence in situ hybridization, reverse transcriptase-quantitative polymerase chain reaction for 28 chromosomal gene translocations/fusion genes, and targeted sequencing analyses were performed on five AMLs with trisomy 4 as the sole chromosomal anomaly. RESULTS: An NPM1 frameshift mutation was found in all leukemic bone marrows, DNMT3A, FLT3, and IDH1 mutations were found in three, KIT and NRAS mutations in two, whereas IDH2 (R140Q), RUNX1, and WT1 mutations were found in only one patient each. The three patients with a DNMT3A (R882H) mutation have died. In contrast, the two patients whose leukemic cells were without this mutation, are alive 55 and 31 months after diagnosis, respectively. CONCLUSION: The results suggest a possible association between trisomy 4 and additional mutations that may influence prognosis.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 4/genética , Leucemia Mieloide Aguda/genética , Trissomia , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Feminino , Humanos , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/patologia , Masculino , Pessoa de Meia-Idade , Prognóstico
17.
High Blood Press Cardiovasc Prev ; 26(2): 143-144, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30806948

RESUMO

Trisomy of the short arm of chromosome 12 is a rare genetic disease characterised by dysmorphic features, mental retardation, behavioural disorders, seizures predisposition and other congenital abnormalities. Arterial hypertension is not a characteristic feature of 12p trisomy, although congenital heart defects are reported. In this case report, we present a young patient with incomplete trisomy 12p, analysing some characteristics of this disease that have not been previously described in literature.


Assuntos
Pressão Sanguínea/genética , Dislipidemias/complicações , Hipertensão/genética , Trissomia/genética , Adolescente , Anti-Hipertensivos/uso terapêutico , Pressão Sanguínea/efeitos dos fármacos , Cromossomos Humanos Par 12/genética , Dislipidemias/sangue , Dislipidemias/diagnóstico , Dislipidemias/tratamento farmacológico , Predisposição Genética para Doença , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Hipertensão/diagnóstico , Hipertensão/tratamento farmacológico , Hipertensão/fisiopatologia , Lipídeos/sangue , Masculino , Fenótipo , Medição de Risco , Fatores de Risco , Resultado do Tratamento , Trissomia/diagnóstico
18.
Mol Biol Rep ; 46(2): 1931-1940, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30710232

RESUMO

The aim of the study was to characterize the type of aneuploidy present in the hybrid Urochloa ruziziensis × Urochloa decumbens and to confirm the origin of the additional chromosomes through comparative analysis of the hybrid and parental karyotypes. C and CMA banding techniques were used for chromosome differentiation. The parental genotypes showed 36 chromosomes. The hybrid presented plants with 36 + 2 chromosomes and plants with 36 + 1 chromosomes. Urochloa ruziziensis (4x) presented four chromosomes with CMA and C bands co-located in the terminal position. In U. decumbens, four chromosomes presented terminal CMA bands, eight chromosomes were distinguished by C banding with pericentromeric and terminal bands, one chromosome with terminal band at both ends and one chromosome presented one C terminal band. For the hybrid, CMA bands were found on five chromosomes and C bands on seven chromosomes, all in terminal position. Aneuploidy was identified in pairs 3' and 4' in the hybrid plants with 36 + 2 chromosomes, characterizing it as double trisomy. The karyotype of hybrid plants with 36 + 1 chromosomes indicated elimination of the additional chromosome identified in pair 4' and maintenance of trisomy on pair 3'. The comparative analysis of karyotypes indicates that the additional chromosomes that characterize the trisomy were inherited from U. ruziziensis (artificial tetraploid).


Assuntos
Quimera/genética , Poaceae/genética , Aneuploidia , Cromossomos de Plantas/genética , Transferência Genética Horizontal/genética , Genótipo , Cariotipagem/métodos , Plantas/genética , Poaceae/metabolismo , Poliploidia , Trissomia/genética
19.
J Assist Reprod Genet ; 36(4): 749-757, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30739229

RESUMO

PURPOSE: To clarify the associations of the maternal age, history of miscarriage, and embryonic/fetal size at miscarriage with the frequencies and profiles of cytogenetic abnormalities detected in spontaneous early miscarriages. METHODS: Miscarriages before 12 weeks of gestation, whose karyotypes were evaluated by G-banding between May 1, 2005, and May 31, 2017, were included in this study. The relationships between their karyotypes and clinical findings were assessed using trend or chi-square/Fisher's exact tests and multivariate logistic analyses. RESULTS: Three hundred of 364 miscarriage specimens (82.4%) had abnormal karyotypes. An older maternal age was significantly associated with the frequency of abnormal karyotype (ptrend < 0.001), particularly autosomal non-viable and viable trisomies (ptrend 0.001 and 0.025, respectively). Women with ≥ 2 previous miscarriages had a significantly lower possibility of miscarriages with abnormal karyotype than women with < 2 previous miscarriages (adjusted odds ratio [aOR], 0.48; 95% confidence interval [95% CI], 0.27-0.85). Although viable trisomy was observed more frequently in proportion to the increase in embryonic/fetal size at miscarriage (ptrend < 0.001), non-viable trisomy was observed more frequently in miscarriages with an embryonic/fetal size < 10 mm (aOR, 2.41; 95% CI, 1.27-4.58), but less frequently in miscarriages with an embryonic/fetal size ≥ 20 mm (aOR, 0.01; 95% CI, 0.00-0.07) than in anembryonic miscarriages. CONCLUSIONS: The maternal age, history of miscarriage, and embryonic/fetal size at miscarriage may be independently associated with the frequencies or profiles of cytogenetic abnormalities in early miscarriages.


Assuntos
Feto Abortado/patologia , Aborto Espontâneo/genética , Citogenética , Trissomia/genética , Cariótipo Anormal , Aborto Espontâneo/patologia , Adulto , Aneuploidia , Vilosidades Coriônicas/patologia , Aberrações Cromossômicas , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/patologia , Feminino , Feto/patologia , Humanos , Cariótipo , Cariotipagem , Idade Materna , Mosaicismo , Gravidez , Estudos Retrospectivos , Trissomia/patologia
20.
Taiwan J Obstet Gynecol ; 58(1): 36-39, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30638476

RESUMO

OBJECTIVE: We describe a rare case of "pure" 8q duplication diagnosed prenatally by conventional karyotyping, that was further characterized by array comparative genomic hybridization (aCGH). CASE REPORT: A 39-year-old, primigravida woman underwent amniocentesis at 23 weeks of gestation because of an abnormal second trimester maternal serum screening for Down syndrome. Conventional cytogenetic analysis demonstrated a karyotype of 46,XX,der(8) (q24.12q24.3) and aCGH identified a duplication of approximately 27 Mb, affecting the distal region of chromosome 8q24.12-q24.3. Parenteral karyotype of both parents was normal and excluded familial translocation or other rearrangements. Although prenatal ultrasound examination showed multiple anomalies the parents decided to keep the pregnancy. The baby was born at 38 weeks of gestation, with an Apgar score of 2. The evolution was unfavorable, and he died within the first 24 h of birth. CONCLUSION: Molecular investigations contribute to a more accurate characterization of the patients with these rare duplication, but also for estimating their prognosis.


Assuntos
Anormalidades Múltiplas/genética , Duplicação Cromossômica , Trissomia/diagnóstico , Adulto , Amniocentese , Cesárea , Cromossomos Humanos Par 8 , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Gravidez , Ultrassonografia Pré-Natal
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