RESUMO
OBJECTIVE@#To apply combined non-invasive prenatal testing (NIPT), chromosomal karyotyping and chromosomal microarray for the screening and prenatal diagnosis of a fetus with supernumerary small marker chromosome (sSMC).@*METHODS@#Standard NIFTY and full gene NIFTY kits were applied to detect free DNA (cfDNA) isolated from peripheral blood sample of a pregnancy woman. Amniocentesis was carried out for the woman for an abnormal NIPT result. G-banded karyotyping and single nucleotide polymorphism array (SNP array) were used to determine the karyotype and copy number variants in the fetus. The result was validated with a fluorescence in situ hybridization (FISH) assay.@*RESULTS@#Both the standard NIFTY and full gene NIFTY indicated abnormal dup(chr12:707 334-33 308 759), for which the T score value of copy number anomaly in full gene NIFTY is 6.823, which is higher than the standard NIFTY's T-score value of 3.9535. The two NIFTY results were both above the normal threshold ± 3. Conventional G-banding analysis of amniocytes showed that the fetus has a karyotype of 47,XY,+mar. SNP-array delineated duplication of 12p (arr [hg19]12p13.33p11.1 (173 786_34 385 641)× 4, which was verified by FISH. Based on the above results, the fetus was diagnosed as a novel case of Pallister-Killian syndrome.@*CONCLUSION@#NIPT has a certain value for the prenatal detection of PKS. Combined use of multiple techniques can facilitate delineation of the source of sSMC.
Assuntos
Feminino , Humanos , Gravidez , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 12/genética , Hibridização in Situ Fluorescente , CariotipagemRESUMO
OBJECTIVE@#To carry out prenatal diagnosis for a fetus with Pallister-killian syndrome (PKS).@*METHODS@#The fetus was found to have limb malformations at 23rd gestational week. With informed consent from its parents, amniotic fluid sample was taken from the fetus and subjected to chromosomal karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) assay.@*RESULTS@#G-banding analysis suggested the fetus has a mos47,XY,+mar[55]/46,XY[10] karyotype. CMA analysis of the cultured amniocytes with CytoScan 750K microarray revealed a segmental tetrasomy duplication of 12p13.33p11.1. FISH confirmed a 70% mosaicism of tetrasomy 12p in the metaphase amniocytes with 12pter/12qter probes.@*CONCLUSION@#Combined use of G-banding karyotyping, CMA and FISH analysis has enabled diagnosis of PKS in the fetus. Although short limb is a common feature of PKS, unequal femur length has not been reported previously, which has expanded the spectrum of PKS-associated limb abnormalities.
Assuntos
Feminino , Humanos , Gravidez , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 12/genética , Feto , Hibridização in Situ Fluorescente , Mosaicismo , Diagnóstico Pré-NatalRESUMO
ABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.
RESUMO Anomalias cromossômicas são responsáveis por inúmeras malformações congênitas no mundo, algumas delas associadas a deleções teloméricas/subteloméricas. As anomalias que envolvem o telômero do cromossomo 12 são raras, com poucos relatos na literatura sobre deleções relacionados à região 12q24.31 e, até onde sabemos, apenas quatro deles na região 12q24.31-q24.33. Relatamos um outro caso de deleção intersticial das bandas 12q24.31-q24.33 associada ao transtorno do espectro do autismo. Trata-se de um menino de 2 anos de idade com atraso global no desenvolvimento associado a múltiplas anomalias congênitas. A utilização do Human Genome CGH Microarray 60K confirmou o diagnóstico da síndrome de deleção 12q. Este estudo fez uma revisão da literatura atual, comparando nosso paciente com casos previamente relatados. Estas análises detalhadas contribuem para o desenvolvimento de correlações genótipo/fenótipo para deleções 12q, que ajudam aos melhores diagnóstico e prognóstico desta deleção.
Assuntos
Humanos , Masculino , Pré-Escolar , Transtorno Autístico/genética , Cromossomos Humanos Par 12/genética , Transtornos Cromossômicos/patologia , Doenças Raras/genética , Transtorno do Espectro Autista/genética , Anormalidades Múltiplas , Aberrações Cromossômicas , Deleção CromossômicaRESUMO
OBJECTIVE@#To carry out prenatal diagnosis for two cases of Pallister-Killian syndrome (PKS) using combined chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH).@*METHODS@#Umbilical cord blood was sampled from the two fetuses and subjected to G-banding chromosomal karyotyping, CMA and FISH assay.@*RESULTS@#Chromosomal karyotyping showed that the two fetuses were mos 47,XX,+i(12)(p10)[3]/46,XX[197] and mos 47,XY,+i(12)(p10)[5]/46,XY[95], respectively. CMA showed that both had carried duplication of 12p. The results of interphase FISH confirmed mosaicism of 12p tetrasomy. Combined with ultrasonographic findings, both fetuses were diagnosed as PKS.@*CONCLUSION@#Prenatal ultrasound examination, karyotype analysis of umbilical cord blood, G-banded chromosomal analysis, CMA and FISH may be used in conjunct for the prenatal diagnosis of PKS.
Assuntos
Feminino , Humanos , Gravidez , Transtornos Cromossômicos , Diagnóstico , Cromossomos Humanos Par 12 , Hibridização in Situ Fluorescente , Análise em Microsséries , Mosaicismo , Diagnóstico Pré-NatalRESUMO
OBJECTIVE@#To explore the clinical and laboratory characteristics of 5 patients with myeloid leukemia and t(12;22)(p13;q12).@*METHODS@#Bone marrow cells were cultured for 24 h and analyzed by standard R-banding. Rearrangement of the MN1 gene was detected by fluorescence in situ hybridization (FISH) using dual color break-apart MN1 probes. MN1-ETV6 and ETV6-MN1 fusion genes were detected by reverse transcription polymerase chain reaction (RT-PCR). And the products were subjected to direct sequencing.@*RESULTS@#Among the 5 patients, 2 had AML-M0, 2 had AML-M4, and 1 had CMML at the initial diagnosis. t(12;22)(p13;q12) was the primary abnormality among all patients. Rearrangements of MN1 gene were detected by FISH in all patients. MN1-ETV6 and ETV6-MN1 fusion genes were detected respectively in 4 and 3 patients.@*CONCLUSION@#t(12;22)(p13;q12) is a rare but recurrent chromosomal abnormality in myeloid leukemia, and is related to poor prognosis. allo-SCT is valuable for patients with t(12;22)(p13;q12).
Assuntos
Humanos , Bandeamento Cromossômico , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 22 , Citogenética , Hibridização in Situ Fluorescente , Leucemia Mieloide , Genética , Proteínas de Fusão Oncogênica , Translocação GenéticaRESUMO
Alcohol-induced flushing syndrome is one of the alcohol hypersensitivity reactions commonly found among Asian population. This study was designed to find markers that can predict this particular propensity among Korean population and to assess the applicability of this finding to build a prediction model as forensic DNA phenotyping tool to operate in practical forensic cases. Five hundred seventy unrelated Koreans were genotyped using microfluidic technology with 24 possible candidate single nucleotide polymorphism (SNP) markers. Of the 24 candidate SNPs, four markers, rs671, rs2074356, rs4646776, and rs10849915, on chromosome 12 showed statistically significant association with P-values ranging from 1.39×10⁻¹⁴ to 0.004988 among our subjects. All four markers show relatively high specificity values, ranging from 0.804651 to 0.972093, presenting their capabilities as differential SNPs that can distinguish a person with or without alcohol-induced flushing syndrome. Maneuvering these candidate SNPs as well as finding additional potential markers through future studies will help building an appropriate prediction model for Koreans that can be used as supplementary tool for individual identification.
Assuntos
Humanos , Álcoois , Aldeído Desidrogenase , Povo Asiático , Cromossomos Humanos Par 12 , DNA , Rubor , Hipersensibilidade , Microfluídica , Polimorfismo de Nucleotídeo Único , Sensibilidade e EspecificidadeRESUMO
Las inversiones son reordenamientos intracromosómicos originados por dos rupturas en un cromosoma seguidas de la reinserción del fragmento rotado en 180º. Dependiendo si involucra o no al centrómero pueden ser pericén tricas o paracéntricas. La incidencia es 0.09 a 0.49/1.000. Las inversiones son rearreglos estructurales aparentemente equilibrados, por lo que la mayoría de los individuos portadores tienen fenotipos normales y una minoría tienen fenotipos patológicos (probablemente por alteración en la secuencia de genes o variación en la función de éstos por efectos de cambio de posición). Se presentan tres casos de inversiones detectas por la técnica de Bandeo G y confirmadas por Hibridación In Situ Fluorescente (FISH). Caso 1: INVERSION PARACENTRICA FAMILIAR DEL CROMOSOMA 13 ASOCIADA A RETRASO MENTAL Y DISMORFIAS. El exhaustivo análisis del árbol genealógico y el estudio cromosómico al mayor número posible de individuos permitió confirmar la asociación inversión/fenotipo patológico en este grupo familiar. 13 de 17 miembros son portadores de inv(13)(q31q32)inh.ish inv(13)(q31q32) (wcp13+). Caso 2: INVERSION PARACENTRICA DEL CROMOSOMA 6 DE NOVO EN RECIEN NACIDO CON RETRASO MADURATIVO GLOBAL Y RETRASO DEL CRECIMIENTO INTRAUTERINO. En este caso no es posible adjudicar que, el fenotipo afectado se deba a la inversión. Cariotipo: 46,XY,add(6)(q21)dn.ish inv(6)(q21q27)(wcp6+). Caso 3: INVERSION PERICENTRICA DEL CROMOSOMA 12 EN OVODONANTE. Dicha inversión no parece tener efecto sobre el fenotipo, ya que es una paciente con coeficiente intelectual normal y no presenta malformaciones congénitas. Cariotipo: 46,XX,inv(12)(p12q14).ish inv(12) (p12q14)(wcp12+). Este reporte de casos muestra los tres fenotipos posibles de una inversión: patológico, dudoso y normal. Es el primer reporte de una inv(13) que confiera fenotipo patológico.
The inversions are intrachromosomal rearrangements which occur when a single chromosome undergoes two breaks and the region between it's rotates 180 degrees before rejoining. Depending on whether or not it include the centromere, they can be pericentric or paracentric. The incidence is 0.09 to 0.49/1,000. The inversions are apparently balanced structural rearrangements, so the most of the carrier individuals show normal phenotypes and a minority have pathological phenotypes (probably due to variation in their function due to changes in position). Three cases of inversions detected by the G Banding technique and confirmed by Fluorescence In Situ Hybridization (FISH) are presented. Case 1: FAMILIAL PARACENTRIC INVERSION OF CHROMOSOME 13 ASSOCIATED WITH MENTAL RETARDATION AND DISMORPHIA. The exhaustive analysis of the pedigree and the chromosomal study to the greatest possible number of individuals confirmed the inversion/pathological phenotype association in this family group. 13 of 17 members are carriers of inv(13)(q31q32)inh.ish inv(13)(q31q32)(wcp13+). Case 2: PARACENTRAL INVERSION DE NOVO OF CHROMOSOME 6 IN NEWBORN WITH GLOBAL MATURITY DELAY AND DELAY OF INTRAUTERINE GROWTH. In this case it is not possible to adjudge that, the affected phenotype is due to the inversion. Karyotype: 46,XY,add(6)(q21)dn.ish inv(6)(q21q27)(wcp6+). Case 3: PERICENTRIC INVERSION OF CHROMOSOME 12 IN OVODONANT. This inversion does not seem to have an effect on the phenotype, since it is a patient with normal IQ and does not present congenital malformations. Karyotype: 46,XX,inv(12)(p12q14).ish inv(12) (p12q14)(wcp12+). This case report shows the three possible phenotypes of an inversion: pathological, questionable and normal. It is the first report of an inv(13) that confers pathological phenotype. Key words: chromosomal inversion, G Banding, phenotype, structural rearrangement, fluorescence in situ hybridization.
Assuntos
Fenótipo , Rearranjo Gênico/genética , Bandeamento Cromossômico , Hibridização in Situ Fluorescente , Cromossomos Humanos Par 6 , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 13RESUMO
El síndrome de Pallister-Killian es una entidad poco frecuente causada por tetrasomía 12p en mosaico. Presenta facies tosca, alopecia frontotemporal, frente prominente, fisuras palpebrales oblicuas ascendentes, hipertelorismo ocular, ptosis palpebral, estrabismo, epicanto, puente nasal ancho, nariz corta, narinas antevertidas, filtrum largo, labio superior delgado e inferior prominente, pabellones auriculares con lóbulos gruesos y protruidos, cuello corto, pezones supernumerarios, manos anchas, braquidactilia, alteraciones en la pigmentación de la piel, cardiopatía congénita, discapacidad intelectual y crisis convulsivas. Su diagnóstico es complejo, ya que, en sangre periférica, el cariotipo suele ser normal. Se presenta el caso de una paciente mestiza mexicana de 4 años de edad con retraso en el desarrollo psicomotor y características fenotípicas que correspondieron a síndrome de Pallister-Killian. El cariotipo en fibroblastos de la biopsia de piel demostró mos47,XX,i(12)(p10)--#91;85--#93;/46,XX--#91;21--#93;. Un equipo multidisciplinario realiza el seguimiento con controles regulares por los departamentos de Neurología, Pediatría General y Genética Médica.
Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping in other tissues, therefore the clinical suspicion is critical to guide the diagnostic tests and the patient requires an interdisciplinary clinical evaluation regarding the several manifestation of the syndrome. W e present the case of a Mexican mestizo female patient of 4 years of age referred by psychomotor delay and cleft palate; the clinical multidisciplinary evaluation demonstrated characteristics corresponding to the Pallister-Killian syndrome. The GTG banding karyotype analysis was normal, the skin fibroblast was mos47,XX,i(12)(p10)--#91;85--#93;/46,XX--#91;21--#93;. This case is an example of the importance of the clinical evaluation in order to establish a diagnosis that is a challenge for the clinical multidisciplinary team to offer medical management and genetic counseling.
Assuntos
Humanos , Feminino , Pré-Escolar , Cromossomos Humanos Par 12/genética , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Fenótipo , Grupos Raciais , Cariotipagem , MéxicoRESUMO
OBJECTIVE@#To investigate the clinical and laboratory characteristics of hematopoietic tumor with t(5;12)(q33;p13). To sum up the similarities and differences of these diseases.@*METHODS@#The chromosome samples were prepared by short-term training of bone marrow cells, and the karyotype analysis was carried out by R or G band. Using PDGFRb dual color fracture rearrangement probe and fluorescence in situ hybridization (FISH) technology to detect the rearrangement of the gene, the immune-typing analysis was performed using flow cytometry. For 7 cases with t(5;12)(q33;p13) patients with hematopathy were retrospectively analyzed.@*RESULTS@#Seven patients were diagnosed with different diagnoses, mainly male. Nuclear type analysis 5 cases of t(5;12)(q33;p13) was of primary abnormality and 2 cases of secondary abnormality. Five of the seven patients were treated and two untreated. Among the treatment patients, two cases were fatal, two case was lost and one case was treated with combined chemotherapy with dasatinib targeted therapy. The treatment process was successful and is still in hospital.@*CONCLUSION@#With t (5;12) (q33;p13) blood system tumors are rare and have unique clinical and laboratory characteristics. At the same time, the heterogeneity is obvious, the patients with tyrosine kinase inhibitor combined with chemotherapy have good effect and good prognosis, and the prognosis of chemotherapy alone is poor.
Assuntos
Humanos , Masculino , Cromossomos Humanos Par 12 , Genética , Cromossomos Humanos Par 5 , Genética , Neoplasias Hematológicas , Genética , Hibridização in Situ Fluorescente , Cariotipagem , Estudos Retrospectivos , Translocação GenéticaRESUMO
<p><b>OBJECTIVE</b>To explore the clinical and genetic characteristics of a case with Pallister-Killian syndrome (PKS).</p><p><b>METHODS</b>Chromosomal karyotype of umbilical cord blood sample derived from a 36-year-old pregnant woman was analyzed by G-banding analysis. After birth, the child was further analyzed with single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) using 12pter/12qter probes.</p><p><b>RESULTS</b>G-banding analysis showed that the fetus has a karyotype of 46,XY [77]/47,XY,+mar [23]. After birth, Affymetrix CytoScan 750K array analysis showed a segmental tetrasomy of arr [hg19] 12p13.33p11.1(173 786 - 34 835 641)×4 and a 34.6 Mb repeat at 12p13.33p11.1 with in the neonate. FISH analysis confirmed that 39% of cells harbored the 12p tetrasomy.</p><p><b>CONCLUSION</b>Combined clinical examination, G-banded chromosomal karyotyping, FISH and microarray analysis can delineate the origin and fragments of small supernumerary marker chromosomes and diagnose PKS with precision.</p>
Assuntos
Adulto , Feminino , Humanos , Gravidez , Bandeamento Cromossômico , Transtornos Cromossômicos , Diagnóstico , Cromossomos Humanos Par 12 , Hibridização in Situ Fluorescente , Métodos , Cariotipagem , Análise de Sequência com Séries de Oligonucleotídeos , Polimorfismo de Nucleotídeo Único , Diagnóstico Pré-Natal , MétodosRESUMO
No abstract available.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Medula Óssea/patologia , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 9 , Subunidade alfa 2 de Fator de Ligação ao Core/genética , DNA/metabolismo , Rearranjo Gênico , Hibridização in Situ Fluorescente , Cariotipagem , Leucemia Mielogênica Crônica BCR-ABL Positiva/diagnóstico , Proteínas de Fusão Oncogênica/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Translocação GenéticaRESUMO
Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having PKS using array-based comparative genomic hybridization (array CGH) and FISH analyses performed on peripheral lymphocytes. Patients 1 and 2 presented with craniofacial dysmorphic features, hypotonia, and a developmental delay. Array CGH revealed two to three copies of 12p in patient 1 and three copies in patient 2. FISH analysis showed trisomy or tetrasomy 12p. Patient 3, who had clinical features comparable to those of patients 1 and 2, was diagnosed by using FISH analysis alone. Here, we report three patients with mosaic tetrasomy 12p. There have been only reported cases diagnosed by chromosome analysis and FISH analysis on skin fibroblast or amniotic fluid. To our knowledge, patient 1 was the first case diagnosed by using array CGH performed on peripheral lymphocytes in Korea.
Assuntos
Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 12 , Hibridização Genômica Comparativa , Hibridização In Situ , TetrassomiaRESUMO
No abstract available.
Assuntos
Pré-Escolar , Feminino , Humanos , Sequência de Bases , Medula Óssea/patologia , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 17 , Rearranjo Gênico , Cariótipo , Proteínas de Fusão Oncogênica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Análise de Sequência de DNA , Fatores Associados à Proteína de Ligação a TATA/genética , Transativadores/genética , Translocação GenéticaRESUMO
<p><b>OBJECTIVE</b>To explore the genetic cause for a child featuring developmental delay and mental retardation.</p><p><b>METHODS</b>The child was analyzed with G-banded karyotyping and an Illumina Human CytoSNP-12 Beadchip.</p><p><b>RESULTS</b>The father of the patient had a normal karyotype. The mother had a karyotype of 46, XX, t(12;15)(p13.3;q13). The child had a karyotype of 45, XY, der(12)t(12;15)(p13.3;q13)mat, -15. SNP array analysis showed that the child has deletions in 12p13.31-p13.33 and 15q11.2-q13.2. But no deletion or duplication was detected in his mother.</p><p><b>CONCLUSION</b>The unbalanced translocation involving chromosomes 12 and 15 probably accounts for the mental retardation in the child. SNP array is useful for the detection of chromosomal rearrangements and genetic counseling.</p>
Assuntos
Adulto , Pré-Escolar , Feminino , Humanos , Masculino , Aberrações Cromossômicas , Bandeamento Cromossômico , Cromossomos Humanos Par 12 , Genética , Cromossomos Humanos Par 15 , Genética , Deficiências do Desenvolvimento , Genética , Deficiência Intelectual , Genética , Cariotipagem , Translocação GenéticaRESUMO
<p><b>OBJECTIVE</b>To explore the origin of a supernumerary small marker chromosome (sSMC) in a fetus, and to assess the feasibility of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis.</p><p><b>METHODS</b>The fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>The karyotype of the fetus was determined as 47,XX,+mar, which was verified by SNP microarray chip analysis as a 34.6 Mb duplication in 12p13.33p11.1. FISH analysis confirmed that the sSMC has originated from chromosome 12p.</p><p><b>CONCLUSION</b>The karyotype of the fetus was determined as 47,XX,+i(12)(p10). Tetrasomy 12p is reported to be a marker for Pallister-Killian syndrome, which may result in multi-system anomalies. SNP-array analysis can simultaneously detect microdeletions and microduplications, which may be used for prenatal diagnosis of suspected cases.</p>
Assuntos
Adulto , Feminino , Humanos , Gravidez , Aberrações Cromossômicas , Bandeamento Cromossômico , Transtornos Cromossômicos , Diagnóstico por Imagem , Embriologia , Genética , Cromossomos Humanos Par 12 , Genética , Feto , Anormalidades Congênitas , Diagnóstico por Imagem , Metabolismo , Estudo de Associação Genômica Ampla , Métodos , Hibridização in Situ Fluorescente , Cariótipo , Cariotipagem , Análise de Sequência com Séries de Oligonucleotídeos , Métodos , Polimorfismo de Nucleotídeo Único , Ultrassonografia Pré-Natal , MétodosRESUMO
<p><b>Objective</b>To study the pathological morphology, immunohistochemical characteristics, and molecular changes of type Ⅱ testicular germ cell tumors (TGCT) and investigate the possible value of immunohistochemistry and fluorescence in situ hybridization (FISH) in the diagnosis of TGCT.</p><p><b>METHODS</b>We collected for this study 97 cases of TGCT, including 75 cases of seminoma, 17 cases of embryonal carcinoma, 11 cases of yolk sac tumor, 16 cases of mature teratoma, 3 cases of immature teratoma, and 1 case of epidermoid cyst, in which normal testicular tissue was found in 20 and non-TGCT in 6. We detected the expressions of different antibodies in various subtypes of TGCT by immunohistochemistry and determined the rate of chromosome 12p abnormality using FISH.</p><p><b>RESULTS</b>The immunophenotypes varied with different subtypes of TGCT. SALL4 and PLAP exhibited high sensitivity in all histological subtypes. CD117 and OCT4 showed strongly positive expressions in invasive seminoma and germ cell neoplasia in situ (GCNIS) but not in normal seminiferous tubules. GPC3 was significantly expressed in the yolk sac tumor, superior to GATA3 and AFP in both range and intensity. CKpan, OCT4, and CD30 were extensively expressed in embryonal carcinoma, while HCG expressed in choriocarcinoma. The positivity rate of isochromosome 12p and 12p amplification in TGCT was 96.7% (29/30).</p><p><b>CONCLUSIONS</b>The majority of TGCT can be diagnosed by histological observation, but immunohistochemical staining is crucial for more accurate subtypes and valuable for selection of individualized treatment options and evaluation of prognosis. Chromosome 12p abnormality is a specific molecular alteration in type Ⅱ TGCT, which is useful for ruling out other lesions.</p>
Assuntos
Humanos , Masculino , Biomarcadores Tumorais , Metabolismo , Carcinoma Embrionário , Diagnóstico , Genética , Metabolismo , Patologia , Aberrações Cromossômicas , Cromossomos Humanos Par 12 , Tumor do Seio Endodérmico , Diagnóstico , Genética , Metabolismo , Patologia , Marcadores Genéticos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Neoplasias Embrionárias de Células Germinativas , Diagnóstico , Genética , Metabolismo , Patologia , Prognóstico , Túbulos Seminíferos , Metabolismo , Seminoma , Diagnóstico , Genética , Metabolismo , Patologia , Teratoma , Diagnóstico , Genética , Metabolismo , Patologia , Neoplasias Testiculares , Diagnóstico , Genética , Metabolismo , PatologiaRESUMO
Many hematological malignances involve recurrent chromosomal abnormalities, and the reciprocal translocation is one of them. However, there are a lot of chromosomal abnormalities with lower incidence and unclear clinical significance. Among them, the one abnormal karyotype translocation, t (1;12) (q21; p13) is a rare karyotype change. Only 6 patients had been reported to have this karyotype and all of them suffered from hematologic diseases, including one case of acute myeloid leukemia, one case of high-risk myelodysplastic syndrome, two children with acute lymphoblastic leukemia, one case of chronic myeloid leukemia at accelerated phase and one case of multiple myeloma. Among them, the fusion gene were detectable in two cases. In this article, the common chromoscme karyotype abnormality involving 1q21 and 12p13, and genes involving in these regious are summarized, moreover the reported cases of t(1;12) (q21;p13) are reviewed.
Assuntos
Criança , Humanos , Cariótipo Anormal , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 12 , Leucemia Mielogênica Crônica BCR-ABL Positiva , Genética , Leucemia Mieloide Aguda , Genética , Mieloma Múltiplo , Genética , Leucemia-Linfoma Linfoblástico de Células Precursoras , Genética , Translocação GenéticaRESUMO
<p><b>OBJECTIVE</b>To study the clinical and genetic characteristics of Pallister-Killian syndrome and improve the diagnosis for this rare chromosomal disease.</p><p><b>METHODS</b>Standard G-banding was carried out for the patient and his parents. Single nucleotide polymorphism array (SNP array) for copy number detection was applied to identify chromosome microdeletion or microduplication. Interphase fluorescence in situ hybridization (FISH) and cytogenetic analyses of fibroblast cells were performed based on the Results of array.</p><p><b>RESULTS</b>The patient's G-banded karyotype has turned out to be 46,XY, whilst his parents were both normal. A duplication of the whole short arm of chromosome 12 was detected by SNP array in the child. The result of interphase FISH performed on interphase chromosomes derived from peripheral blood cells was nucish (RP11-104 b5, a19 RP11-956) × 4 [19/100], whilst the karyotype of fibroblast cells was 47,XY,+i(12) (p10 [44]/46, XY[56].</p><p><b>CONCLUSION</b>By combining with clinical characteristics, SNP array, skin fibroblasts karyotype analysis and FISH can diagnose Pallister-Killian syndrome effectively.</p>
Assuntos
Feminino , Humanos , Gravidez , Bandeamento Cromossômico , Transtornos Cromossômicos , Diagnóstico , Genética , Cromossomos Humanos Par 12 , Genética , Hibridização in Situ Fluorescente , Cariotipagem , Polimorfismo de Nucleotídeo Único , Diagnóstico Pré-NatalRESUMO
Metabolic syndrome (MetS) is a complex disorder related to insulin resistance, obesity, and inflammation. Genetic and environmental factors also contribute to the development of MetS, and through genome-wide association studies (GWASs), important susceptibility loci have been identified. However, GWASs focus more on individual single-nucleotide polymorphisms (SNPs), explaining only a small portion of genetic heritability. To overcome this limitation, pathway analyses are being applied to GWAS datasets. The aim of this study is to elucidate the biological pathways involved in the pathogenesis of MetS through pathway analysis. Cohort data from the Korea Associated Resource (KARE) was used for analysis, which include 8,842 individuals (age, 52.2 +/- 8.9 years; body mass index, 24.6 +/- 3.2 kg/m2). A total of 312,121 autosomal SNPs were obtained after quality control. Pathway analysis was conducted using Meta-analysis Gene-Set Enrichment of Variant Associations (MAGENTA) to discover the biological pathways associated with MetS. In the discovery phase, SNPs from chromosome 12, including rs11066280, rs2074356, and rs12229654, were associated with MetS (p < 5 x 10(-6)), and rs11066280 satisfied the Bonferroni-corrected cutoff (unadjusted p < 1.38 x 10(-7), Bonferroni-adjusted p < 0.05). Through pathway analysis, biological pathways, including electron carrier activity, signaling by platelet-derived growth factor (PDGF), the mitogen-activated protein kinase kinase kinase cascade, PDGF binding, peroxisome proliferator-activated receptor (PPAR) signaling, and DNA repair, were associated with MetS. Through pathway analysis of MetS, pathways related with PDGF, mitogen-activated protein kinase, and PPAR signaling, as well as nucleic acid binding, protein secretion, and DNA repair, were identified. Further studies will be needed to clarify the genetic pathogenesis leading to MetS.
Assuntos
Índice de Massa Corporal , Cromossomos Humanos Par 12 , Estudos de Coortes , Conjunto de Dados , Reparo do DNA , Estudo de Associação Genômica Ampla , Inflamação , Resistência à Insulina , Coreia (Geográfico) , Síndrome Metabólica , Obesidade , Receptores Ativados por Proliferador de Peroxissomo , Peroxissomos , Fosfotransferases , Fator de Crescimento Derivado de Plaquetas , Polimorfismo de Nucleotídeo Único , Ligação Proteica , Proteínas Quinases , Controle de QualidadeRESUMO
No abstract available.