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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.
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
3.
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
4.
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
5.
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
6.
Expert Rev Mol Diagn ; 19(2): 189-196, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30582381

RESUMO

OBJECTIVES: This study was aimed to report the clinical characteristics of fetal chromosomal aneuploidy diseases using noninvasive prenatal testing (NIPT) in twin pregnancies and analyze the results in terms of chorionicity, conception, and fetal fraction. METHODS: A total of 1160 women with twin pregnancies were recruited from 1 October 2015, to 1 August 2017. Next-generation sequencing technology was used to detect fetal aneuploidies, such as trisomy 21, trisomy 18, trisomy 13 and trisomy X. RESULTS: Aneuploidy was detected using NIPT in 26 fetuses, among which 18 fetal aneuploidies occurred in only one fetus of the twins. The rate of aneuploidy was 1.3% for dichorionic diamniotic twins and 0.5% for monochorionic diamniotic twins, respectively. The rate of aneuploidy was 1.2% for spontaneous pregnancy group and 1.1% for assisted reproductive technologies group. CONCLUSION: In this study, detection of trisomy 21, trisomy 18, trisomy 13, and X abnormality in twin pregnancies was confirmed to be accurate. The aneuploidies mostly occurred in only one fetus of the twins, and trisomy 21 was the most common type. The prenatal diagnostic standard for NIPT in singleton pregnancies could perform well in twin pregnancies, which means NIPT can be popularized as routine prenatal screening in twin pregnancies.


Assuntos
Síndrome de Down , Doenças Fetais , Gravidez de Gêmeos , Diagnóstico Pré-Natal , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual , Síndrome da Trissomia do Cromossomo 13 , Síndrome da Trissomía do Cromossomo 18 , Trissomia , Cromossomos Humanos X/genética , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/genética , Testes Genéticos , Humanos , Gravidez , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Trissomia/diagnóstico , Trissomia/genética , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/genética
7.
Prenat Diagn ; 39(2): 88-99, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30575063

RESUMO

OBJECTIVE: Cell-free DNA (cfDNA) fragments in maternal plasma contain DNA damage and may negatively impact the sensitivity of noninvasive prenatal testing (NIPT). However, some of these DNA damages are potentially reparable. We aimed to recover these damaged cfDNA molecules using PreCR DNA repair mix. METHODS: cfDNA was extracted from 20 maternal plasma samples and was repaired and sequenced by the Illumina platform. Size profiles and fetal DNA fraction changes of repaired samples were characterized. Targeted sequencing of chromosome Y sequences was used to enrich fetal cfDNA molecules following repair. Single-molecule real-time (SMRT) sequencing platform was employed to characterize long (>250 bp) cfDNA molecules. NIPT of five trisomy 21 samples was performed. RESULTS: Size profiles of repaired libraries were altered, with significantly increased long (>250 bp) cfDNA molecules. Single nucleotide polymorphism (SNP)-based analyses showed that both fetal- and maternal-derived cfDNA molecules were enriched by the repair. Fetal DNA fractions in maternal plasma showed a small but consistent (4.8%) increase, which were contributed by a higher increment of long fetal cfDNA molecules. z-score values were improved in NIPT of all trisomy 21 samples. CONCLUSION: Plasma DNA repair recovers and enriches long cfDNA molecules of both fetal and maternal origins in maternal plasma.


Assuntos
Ácidos Nucleicos Livres/sangue , Reparo do DNA/fisiologia , Feto/metabolismo , Mães , Análise Mutacional de DNA/métodos , Feminino , Técnicas de Genotipagem/métodos , Humanos , Testes para Triagem do Soro Materno/métodos , Análise em Microsséries , Polimorfismo de Nucleotídeo Único , Gravidez , Primeiro Trimestre da Gravidez/sangue , Terceiro Trimestre da Gravidez/sangue , Diagnóstico Pré-Natal/métodos , Trissomia/diagnóstico , Trissomia/genética
8.
Prenat Diagn ; 39(2): 116-123, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30578730

RESUMO

OBJECTIVES: To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. METHOD: Fetuses with ultrasound-detected hypoplastic nasal bone (absent or <2.5th percentile in length) between 16 and 37 weeks' gestation over a 10-year period were analysed retrospectively. RESULTS: A total of 118 cases of hypoplastic nasal bone met the inclusion criteria. A pathogenic or potentially pathogenic karyotype was detected more frequently in the era where CMA was available (31/60, 52% vs 19/58, 33%). Of these, 25 cases (42%) had common aneuploidies, and six cases (10%) had clinically relevant copy number variants (CNVs). A clinically relevant CNV was detected in two fetuses that presented with isolated hypoplastic nasal bone on initial ultrasound. CONCLUSION: In addition to its known association with trisomy 21, a hypoplastic nasal bone may be an objective marker of facial dysmorphism associated with clinically relevant CNVs. Our results support consideration of invasive testing with microarray for pregnancies in which a hypoplastic nasal bone has been diagnosed on ultrasound irrespective of a low-risk screening result for common chromosomal abnormalities.


Assuntos
Aberrações Cromossômicas/embriologia , Anormalidades Craniofaciais/diagnóstico , Variações do Número de Cópias de DNA , Análise em Microsséries , Osso Nasal/anormalidades , Adulto , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/embriologia , Variações do Número de Cópias de DNA/genética , Feminino , Testes Genéticos/métodos , Idade Gestacional , Humanos , Osso Nasal/diagnóstico por imagem , Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Diagnóstico Pré-Natal/métodos , Estudos Retrospectivos , Trissomia/diagnóstico , Trissomia/genética , Ultrassonografia Pré-Natal
9.
Prenat Diagn ; 39(2): 100-106, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30586157

RESUMO

OBJECTIVE: To evaluate the reasons for nonreportable cell-free DNA (cfDNA) results in noninvasive prenatal testing (NIPT), we retrospectively studied maternal characteristics and other details associated with the results. METHODS: A multicenter retrospective cohort study in pregnant women undergoing NIPT by massively parallel sequencing (MPS) with failed cfDNA tests was performed between April 2013 and March 2017. The women's data and MPS results were analyzed in terms of maternal characteristics, test performance, fetal fraction (FF), z scores, anticoagulation therapy, and other details of the nonreportable cases. RESULTS: Overall, 110 (0.32%) of 34 626 pregnant women had nonreportable cfDNA test results after an initial blood sampling; 22 (20.0%) cases had a low FF (<4%), and 18 (16.4%) cases including those with a maternal malignancy, were found to have altered genomic profile. Approximately half of the cases with nonreportable results had borderline z score. Among the women with nonreportable results because of altered genomic profile, the success rate of retesting using a second blood sampling was relatively low (25.0%-33.3%). Thirteen (11.8%) of the women with nonreportable results had required hypodermic heparin injection. CONCLUSIONS: The classification of nonreportable results using cfDNA analysis is important to provide women with precise information and to reduce anxiety during pregnancy.


Assuntos
Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala , Diagnóstico Pré-Natal/métodos , Projetos de Pesquisa , Trissomia/diagnóstico , Adulto , Reações Falso-Negativas , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Sequenciamento de Nucleotídeos em Larga Escala/normas , Sequenciamento de Nucleotídeos em Larga Escala/estatística & dados numéricos , Humanos , Valor Preditivo dos Testes , Gravidez , Primeiro Trimestre da Gravidez/sangue , Primeiro Trimestre da Gravidez/genética , Segundo Trimestre da Gravidez/sangue , Segundo Trimestre da Gravidez/genética , Reprodutibilidade dos Testes , Projetos de Pesquisa/normas , Projetos de Pesquisa/estatística & dados numéricos , Estudos Retrospectivos , Fatores de Risco , Trissomia/genética
11.
BMC Bioinformatics ; 19(1): 531, 2018 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-30558531

RESUMO

BACKGROUND: Various algorithms have been developed to predict fetal trisomies using cell-free DNA in non-invasive prenatal testing (NIPT). As basis for prediction, a control group of non-trisomy samples is needed. Prediction accuracy is dependent on the characteristics of this group and can be improved by reducing variability between samples and by ensuring the control group is representative for the sample analyzed. RESULTS: NIPTeR is an open-source R Package that enables fast NIPT analysis and simple but flexible workflow creation, including variation reduction, trisomy prediction algorithms and quality control. This broad range of functions allows users to account for variability in NIPT data, calculate control group statistics and predict the presence of trisomies. CONCLUSION: NIPTeR supports laboratories processing next-generation sequencing data for NIPT in assessing data quality and determining whether a fetal trisomy is present. NIPTeR is available under the GNU LGPL v3 license and can be freely downloaded from https://github.com/molgenis/NIPTeR or CRAN.


Assuntos
Algoritmos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Diagnóstico Pré-Natal/métodos , Trissomia/diagnóstico , Feminino , Humanos , Testes para Triagem do Soro Materno , Valor Preditivo dos Testes , Gravidez
12.
Medicine (Baltimore) ; 97(45): e13094, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30407316

RESUMO

RATIONALE: Chromosome deletion/duplication has been reported to be associated with mental disability and dysmorphism according to the accumulated research evidence. PATIENT CONCERNS: A 25-year-old woman underwent amniocentesis for cytogenetic and single-nucleotide polymorphism (SNP) array analysis at 18 weeks of gestation due to the increased Down syndrome risk of 1/13. DIAGNOSES: The fetal chromosomal analysis revealed a seemingly "normal" chromosomal karyotype, but the SNP array results showed a partial duplication of chromosome 4q34.1q35.2 and a deletion of chromosome 7q34q36.3fluorescence in situ hybridization (FISH) analysis showed that the couple had normal chromosome 4 and 7, whereas there was a partial signal fragment of chromosome 4 attached on the long arm of chromosome 7 for the fetus. INTERVENTIONS: The couple finally chose to terminate the pregnancy based on the ultrasonic multiple malformations and the abnormal SNP array results. OUTCOMES: The duplicated/deleted segments of the fetus were de novo. Meanwhile, we consider SHH and XRCC2 as good candidate genes, which may, in part, explain the observed abnormalities for the fetus. LESSONS: The combination of SNP array and FISH analysis can give a molecular chromosomal diagnosis, which will offer more clear cytogenetic diagnosis and genetic counseling.


Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Deleção Cromossômica , Cromossomos Humanos Par 7/genética , Feto/diagnóstico por imagem , Trissomia/diagnóstico , Aborto Induzido , Adulto , Cromossomos Humanos Par 4 , Feminino , Humanos , Gravidez , Ultrassonografia Pré-Natal
13.
Cornea ; 37(12): 1596-1600, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30272617

RESUMO

PURPOSE: To describe the clinical, anterior segment optical coherence tomography (OCT) and histopathological features of 2 infants with congenital corneal opacities (CCOs) and undiagnosed trisomy 8 mosaicism syndrome (T8mS). METHODS: This is a retrospective case report documenting ocular and systemic findings, imaging, pathology and management of 2 patients with T8mS. RESULTS: An 11-month-old white male infant and a 4-week-old Asian female were initially seen for unilateral and bilateral CCOs, respectively. Corneal examination revealed para-axial anterior stromal opacities with blood vessels. Superficial irregular opacities were seen on OCT, and specular microscopy revealed normal endothelial cell morphology. One eye required superficial keratectomy to clear the visual axis and developed steroid-induced glaucoma in the early postoperative period, successfully treated with goniotomy. Both patients had hyperopia, anisometropia, and amblyopia, which was managed with glasses and patching. Cytogenetic testing (through microarray and fluorescence in situ hybridization) later diagnosed T8mS in both cases. CONCLUSIONS: T8mS should be considered in the differential diagnosis for superficial CCOs with blood vessels. Anterior segment OCT can guide management and cytogenetics performed to confirm diagnosis. Systemic associations and, in particular, risk of acute myeloid leukemia and myelodysplastic syndromes warrant prompt diagnosis of this condition.


Assuntos
Córnea/patologia , Opacidade da Córnea/congênito , Trissomia/diagnóstico , Dissomia Uniparental/diagnóstico , Acuidade Visual , Cromossomos Humanos Par 8/genética , Opacidade da Córnea/diagnóstico , Opacidade da Córnea/genética , Feminino , Humanos , Lactente , Masculino , Mosaicismo , Tomografia de Coerência Óptica , Trissomia/genética , Dissomia Uniparental/genética
14.
Medicine (Baltimore) ; 97(39): e12306, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30278506

RESUMO

INTRODUCTION: Complete non-mosaic trisomy 22 is a fatal chromosomal disorder that only few fetuses can survive over 12 weeks as reported. Prenatal sonographic findings combined with postnatal or postmortem discoveries showed characteristic multi-systematic anomalies. PATIENT CONCERNS: The unborn baby of a 35-year-old pregnant woman was found to have several anomalies during a prenatal sonographic scan, including intrauterine growth retardation, ventricular septal defect, flat facial profile, and unclear bilateral kidney structures. DIAGNOSES: The fetus was diagnosed as having complete non-mosaic trisomy 22 by chromosomal analysis. INTERVENTIONS: The pregnancy was terminated at 24 weeks, and autopsy was permitted. OUTCOMES: Postmortem examinations revealed additional long-sectional spina bifida occulta and imperforate anus. CONCLUSIONS: This was the first time a case of spinal cord defect was reported in trisomy 22 fetuses. More attention should be paid to the spinal cord during sonographic examinations in trisomy 22 fetuses.


Assuntos
Espinha Bífida Oculta/genética , Trissomia/diagnóstico , Adulto , Anus Imperfurado/genética , Cromossomos Humanos Par 22 , Feminino , Humanos , Cariotipagem , Gravidez , Ultrassonografia Pré-Natal
15.
Indian Pediatr ; 55(8): 705-706, 2018 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-30218523

RESUMO

BACKGROUND: HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene. CASE CHARACTERISTICS: A male preterm infant presented with multiple dysmorphic features characterized by small for gestational age, hypognathia and facial abnormalities. OBSERVATION: Investigations revealed hypocalcemia and low parathyroid hormone levels and bilateral sensorineural deafness. OUTCOME: Chromosomal microarray analysis revealed a combination of deletion on chromosome 10p (10p15.3p14) with loss of GATA3 gene and duplication of chromosome 20p (20p13p12.3) as a result of unbalanced 10:20 translocation. MESSAGE: Detecting this syndrome at neonatal age is very important because it allows early intervention to minimize future clinical problems.


Assuntos
Sequência de Bases , Cromossomos Humanos Par 10 , Fator de Transcrição GATA3/genética , Perda Auditiva Neurossensorial/diagnóstico , Hipoparatireoidismo/diagnóstico , Doenças do Prematuro/diagnóstico , Nefrose/diagnóstico , Deleção de Sequência , Trissomia/diagnóstico , Cromossomos Humanos Par 20 , Marcadores Genéticos , Perda Auditiva Neurossensorial/genética , Humanos , Hipoparatireoidismo/genética , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/genética , Masculino , Nefrose/genética
17.
Ann Biol Clin (Paris) ; 76(4): 445-450, 2018 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-29905151

RESUMO

Chronic lymphocytic leukemia (CLL) is a B-cell neoplasm defined by the presence of at least 5×109 G/L monoclonal B lymphocytes in the peripheral blood. It is the most common type of leukemia in adult patients from Western countries. CLL is characterized by a gradual accumulation of small, longliving, immunologically dysfunctional, morphologically mature-appearing B-lymphocytes in blood, bone marrow and lymphoid tissues. It has also been reported that CLL cells have a proliferation rate higher than previously recognized, particularly in the lymphoid tissues. The flow cytometry analysis of typical CLL identifies a monotypic B-cell population expressing a low level of surface immunoglobulins, light chain being either kappa or lambda-, CD5+, CD19+, CD23+, CD79b (dim), negative for FMC7 and CD10. Clinical presentation, course and outcome are highly variable. Interphase fluorescent in situ hybridization (I-FISH) identifies chromosomal abnormalities in about 80% of cases, most commonly involving 13q14 (55%), 11q22-23 (18%), or 17p13 deletions (7%) and trisomy 12 (16%). Therefore, five prognostic categories have been defined with a statistical model, showing the shortest median survival and treatment-free intervals in patients harboring 17p and 11q deletions, followed by trisomy 12 and a normal karyotype, whereas 13q deletion as the sole abnormality is associated with the best prognosis. We report here a rare case of CLL in a 54 year-old-man.


Assuntos
Cromossomos Humanos Par 12 , Leucemia Linfocítica Crônica de Células B/complicações , Leucemia Linfocítica Crônica de Células B/diagnóstico , Trissomia/diagnóstico , Cromossomos Humanos Par 14 , Cromossomos Humanos Par 18 , Análise Citogenética , Humanos , Leucemia Linfocítica Crônica de Células B/sangue , Leucemia Linfocítica Crônica de Células B/genética , Masculino , Pessoa de Meia-Idade , Translocação Genética , Trissomia/genética
18.
Clin Exp Rheumatol ; 36 Suppl 112(3): 234-236, 2018 May-Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29745886

RESUMO

Bone marrow fibrosis has been found to be associated with autoimmune disorders, and autoimmune myelofibrosis (AIMF) has been defined. Primary myelofibrosis (PMF), a clonal myeloproliferative disorder, should be distinguished from AIMF which has a good response to steroids, as the former has a high mortality and very bad response to conventional treatment. This case report describes a rare case of PMF accompanied with Sjögren's syndrome (SJS) and primary biliary cirrhosis (PBC), in a patient with trisomy 8 mosaic. Careful clinical assessment, gene mutation screening, and bone marrow evaluation can lead to an accurate diagnosis.


Assuntos
Medula Óssea/patologia , Cirrose Hepática Biliar/complicações , Mielofibrose Primária/complicações , Síndrome de Sjogren/complicações , Trissomia/genética , Dissomia Uniparental/genética , Idoso , Antibacterianos/uso terapêutico , Biópsia , Medula Óssea/efeitos dos fármacos , Exame de Medula Óssea , Colagogos e Coleréticos/uso terapêutico , Cromossomos Humanos Par 8/genética , Diagnóstico Diferencial , Evolução Fatal , Feminino , Glucocorticoides/uso terapêutico , Humanos , Imunossupressores/uso terapêutico , Cariotipagem , Cirrose Hepática Biliar/diagnóstico , Cirrose Hepática Biliar/tratamento farmacológico , Cirrose Hepática Biliar/imunologia , Mosaicismo , Valor Preditivo dos Testes , Mielofibrose Primária/tratamento farmacológico , Mielofibrose Primária/imunologia , Mielofibrose Primária/patologia , Síndrome de Sjogren/diagnóstico , Síndrome de Sjogren/tratamento farmacológico , Síndrome de Sjogren/imunologia , Trissomia/diagnóstico , Dissomia Uniparental/diagnóstico
19.
Mol Genet Genomic Med ; 6(3): 370-381, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29573570

RESUMO

BACKGROUND: Karyotype determination has a central role in the genetic workup of pregnancy loss, as aneuploidy (trisomy and monosomy) and polyploidy (triploidy and tetraploidy) are the cause in at least 50% of first trimester, 25% of second trimester, and 11% of third trimester miscarriages. There are several limitations with the current approaches of obtaining a karyotype using traditional cytogenetics, fluorescence in situ hybridization with a limited number of probes, and chromosomal microarray. These include culture failure, incomplete results, lower sensitivity, and longer reporting time. METHODS: To overcome current limitations, a novel molecular assay is developed with a Standard Resolution Interphase Chromosome Profiling probe set which is a variation of the recently developed High Resolution probe set. It generates a molecular karyotype that can detect all major changes commonly associated with pregnancy loss. Initial familiarization of signal patterns from the probe set was used, followed by validation of the method using 83 samples from miscarriages in a blind study from three different laboratories. Finally, the clinical utility of the method was tested on 291 clinical samples in two commercial reference laboratory settings on two different continents. RESULTS: The new molecular approach not only identified all the chromosome changes observed by current methods, but also significantly improved abnormality detection by characterizing derivative chromosomes and finding subtle subtelomeric rearrangements, balanced and unbalanced. All Robertsonian translocations were also detected. The abnormality rate was 54% on clinical samples from commercial laboratory 1 and 63% from laboratory 2. CONCLUSION: The attributes of this method make it an ideal choice for the genetic workup of miscarriages, namely (1) near 100% successful results, (2) greater sensitivity than conventional chromosome analysis or FISH panels, (3) rapid reporting time, and (4) favorable comparisons with chromosomal microarray.


Assuntos
Análise Citogenética/métodos , Citogenética/métodos , Aborto Espontâneo/genética , Aberrações Cromossômicas , Feminino , Humanos , Hibridização in Situ Fluorescente/métodos , Interfase/genética , Cariótipo , Cariotipagem/métodos , Monossomia/diagnóstico , Gravidez , Diagnóstico Pré-Natal/métodos , Sensibilidade e Especificidade , Tetrassomia/diagnóstico , Trissomia/diagnóstico
20.
J Obstet Gynaecol Res ; 44(5): 955-959, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29436108

RESUMO

A complete hydatidiform mole (CHM) coexisting with a viable fetus is a rare finding in pregnancies. Accurate diagnosis often relies on ultrasonographic, histopathological and molecular techniques in the definite diagnosis. To the best of our knowledge, a liveborn fetus coexisting with CHM with trisomy 9 has not been described. The use of molecular genotyping and immunohistochemical laboratory investigations enabled the CHM to be fully characterized. Postzygotic diploidization of a triploid conception arising from dispermy is the proposed mechanism of its formation.


Assuntos
Mola Hidatiforme/diagnóstico , Nascimento Vivo , Trissomia/diagnóstico , Neoplasias Uterinas/diagnóstico , Adulto , Cromossomos Humanos Par 9 , Feminino , Humanos , Gravidez
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