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1.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781292

RESUMO

OBJECTIVE@#To explore the genetic basis of a child with developmental delay and intellectual disability.@*METHODS@#Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis.@*RESULTS@#No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus.@*CONCLUSION@#15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal , Criança , Bandeamento Cromossômico , Duplicação Cromossômica , Cromossomos Humanos Par 15 , Genética , Deficiências do Desenvolvimento , Genética , Feminino , Humanos , Deficiência Intelectual , Genética , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal
2.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781317

RESUMO

OBJECTIVE@#To carry out genetic testing for a boy presenting with mental retardation and hypoplasia.@*METHODS@#Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism based array (SNP-array) were used to analyze the boy and his parents.@*RESULTS@#SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46,XX,ish ins(11;2) (p15;q33q36), and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation. The karyotype of the boy was ascertained as 46,XY,ish der(11)ins(11;2) (p15;q33q36)mat.@*CONCLUSION@#SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.


Assuntos
Criança , Bandeamento Cromossômico , Duplicação Cromossômica , Feminino , Testes Genéticos , Humanos , Hipospadia , Genética , Hibridização in Situ Fluorescente , Deficiência Intelectual , Genética , Cariotipagem , Masculino , Polimorfismo de Nucleotídeo Único , Gravidez , Translocação Genética
3.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781313

RESUMO

OBJECTIVE@#To explore the genetic etiology of a child with moderate mental retardation and multiple malformations.@*METHODS@#The child and his parents underwent conventional G banding karyotype analysis and single nucleotide polymorphism-based mircoarray (SNP-array) scan. A systematic review for chromosome 13q deletions was also conducted to explore the correlation between genotype and clinical phenotypes.@*RESULTS@#G banding karyotype of the child showed a partial deletion in the long arm of chromosome 13 described as 46,XY,del(13)(q32). SNP-array detected a deletion fragment of 11.367 Mb in 13q32.1-q33.3 region, which encompassed 30 OMIM (Online Mendelian Inheritance in Man) genes including FARP1, STK24 and ZIC2. The parents were found with no obvious abnormality in their karyotypes and SNP-array results, suggesting a de novo origin for the deletion. Combined with previous reported cases, chromosomal 13q deletions seem to have various pathogenic effects on the patients.@*CONCLUSION@#Chromosomal 13q32.1-q33.3 deletion probably underlies the disease phenotype in the child, and EFNB2 may be a candidate gene for congenital heart defect, genital malformation, hypospadias and anorectal malformations.


Assuntos
Anormalidades Múltiplas , Genética , Criança , Bandeamento Cromossômico , Deleção Cromossômica , Transtornos Cromossômicos , Cromossomos Humanos Par 13 , Genética , Humanos , Cariotipagem , Masculino
4.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781312

RESUMO

OBJECTIVE@#To analyze the clinical phenotype and genomic abnormality of an adult featuring congenital heart defect and multiple developmental disorders.@*METHODS@#The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis.@*RESULTS@#The patient showed a normal karyotype, while SNP-array revealed a 42.7 Mb mosaic uniparental disomy (UPD) in the 11p15.5p12 region ([hg19] chr11: 491 333-43 189 376).@*CONCLUSION@#The mosaicism of UPD of 11p15.5p12 region probably underlies the congenital heart defect and developmental disorders in the patient.


Assuntos
Adulto , Bandeamento Cromossômico , Deficiências do Desenvolvimento , Genética , Testes Genéticos , Cardiopatias Congênitas , Genética , Humanos , Cariotipagem , Mosaicismo , Fenótipo , Polimorfismo de Nucleotídeo Único , Dissomia Uniparental
5.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781311

RESUMO

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


Assuntos
Aberrações Cromossômicas , Bandeamento Cromossômico , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Polimorfismo de Nucleotídeo Único , Gravidez , Diagnóstico Pré-Natal
6.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-775801

RESUMO

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
Bandeamento Cromossômico , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 22 , Citogenética , Humanos , Hibridização in Situ Fluorescente , Leucemia Mieloide , Genética , Proteínas de Fusão Oncogênica , Translocação Genética
7.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771983

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
Bandeamento Cromossômico , Cromossomos Humanos , Variações do Número de Cópias de DNA , Feto , Humanos , Cariotipagem , Análise em Microsséries , Diagnóstico Pré-Natal , Trissomia
8.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771981

RESUMO

OBJECTIVE@#To carry out genetic diagnosis for a pregnant woman and her fetus.@*METHODS@#Chromosome G-banding and microarray analysis were used to analyze the woman featuring dysmorphism and recognition defect and her fetus featuring developmental retardation.@*RESULTS@#The karyotype of the woman was normal, but chromosome microarray analysis showed that she has carried a 1423 kb deletion at 7q11.23 region. Her fetus has carried a 1530 kb deletion at the same region. Both individuals were diagnosed as Williams-Beuren syndrome.@*CONCLUSION@#Familiarity with its clinical features and proper selection of genetic testing methods are crucial for the diagnosis of Williams-Beuren syndrome.


Assuntos
Criança , Bandeamento Cromossômico , Cromossomos Humanos Par 7 , Feminino , Testes Genéticos , Humanos , Cariotipagem , Gravidez , Diagnóstico Pré-Natal , Síndrome de Williams , Diagnóstico
9.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771973

RESUMO

OBJECTIVE@#To explore the genetic basis for a fetus featuring growth restriction and validate the effectiveness of a novel noninvasive prenatal testing (NIPT) technique for the detection of chromosomal microdeletions.@*METHODS@#Next-generation sequencing(NGS) and fluorescence in situ hybridization(FISH) were used to analyze the DNA of the fetus. Conventional G-banding was used to analyze the karyotypes of the fetus and its parents. High-throughput sequencing was used to analyze free fetal DNA.@*RESULTS@#NGS analysis has revealed a 4.88 Mb deletion at 15q11.2-q13.1 region in the fetus, which has a 99% overlap with the critical region of Prader-Willi syndrome (Type 2) and Angelman syndrome (Type 2) and encompassed critical genes including SNRPN and UBE3A. NIPT also revealed a 4.6 Mb deletion at 15q12, which was consistent with the results of fetal cord blood and amniotic DNA testing. FISH assay has confirmed the result of NGS. By karyotying, all subjects showed a normal karyotypes at a level of 320~400 bands.@*CONCLUSION@#It is quite necessary to carry out genetic testing on fetuses showing growth restriction. NIPT for fetal chromosomal microdeletions/microduplication syndromes is highly accurate for the diagnosis of Prader-Willi/Angelman syndrome.


Assuntos
Síndrome de Angelman , Bandeamento Cromossômico , Cromossomos Humanos Par 15 , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Síndrome de Prader-Willi , Gravidez
10.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776749

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
Bandeamento Cromossômico , Cromossomos Humanos Par 21 , Genética , Variações do Número de Cópias de DNA , Erros de Diagnóstico , Síndrome de Down , Feminino , Humanos , Cariotipagem , Trissomia , Diagnóstico
11.
Prensa méd. argent ; 104(10): 478-488, dic 2018. fig
Artigo em Espanhol | LILACS (Américas), BINACIS | ID: biblio-1046959

RESUMO

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 13
12.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-687971

RESUMO

<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 , Bandeamento Cromossômico , Transtornos Cromossômicos , Diagnóstico , Cromossomos Humanos Par 12 , Feminino , Humanos , Hibridização in Situ Fluorescente , Métodos , Cariotipagem , Análise de Sequência com Séries de Oligonucleotídeos , Polimorfismo de Nucleotídeo Único , Gravidez , Diagnóstico Pré-Natal , Métodos
13.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-687966

RESUMO

<p><b>OBJECTIVE</b>To carry out genetic analysis on a child with developmental delay and multiple malformation.</p><p><b>METHODS</b>The karotypes of the child and her parents were analyzed with routine chromosomal G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH).</p><p><b>RESULTS</b>The karyotype of the proband was determined as 46,XX,del(6)(q22),inv(6)(p21.1q21), while no karyotypic abnormality was detected in her parents. aCGH has identified in the child a de novo 800 kb deletion encompassing the RUNX2 gene at 6p21.1 and a de novo 11.79 Mb deletion at 6q21-q22.31.</p><p><b>CONCLUSION</b>Both of the de novo deletions are pathogenic. Deletion of the RUNX2 gene probably underlies the cleidocranial dysplasia in the patient, while the 6q21-q22.31 deletion may result in malformation of the brain.</p>


Assuntos
Pré-Escolar , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 6 , Displasia Cleidocraniana , Genética , Hibridização Genômica Comparativa , Subunidade alfa 1 de Fator de Ligação ao Core , Genética , Feminino , Testes Genéticos , Humanos , Cariotipagem
14.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-687963

RESUMO

<p><b>OBJECTIVE</b>To explore the genetic cause for a Uyghur Chinese child with collodion skin.</p><p><b>METHODS</b>G-banded chromosomal karyotyping was carried out for the child and his parents. High-throughput sequencing for 25 genes related to ichthyosis and ichthyosiform dermatosis was also performed for the child.</p><p><b>RESULTS</b>No karyotypic abnormality was found in the child and his parents. High-throughput sequencing has detected in the patient a previously described pathogenic mutation c.919C>T (p.Arg307Trp) and a novel c.856C>T (p.Arg286Trp) mutation in the TGM1 gene. By Sanger sequencing, the child was verified to have carried both mutations. His father was found to be a heterozygous carrier of the c.856C>T (p.Arg286Trp) mutation, while neither mutation was found in the mother.</p><p><b>CONCLUSION</b>Congenital ichthyosis associated with the TGM1 gene may show an autosomal recessive inheritance. The collodion condition of the child is probably due to the compound heterozygous mutations of the TGM1 gene.</p>


Assuntos
Criança , Bandeamento Cromossômico , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Ictiose Lamelar , Genética , Lactente , Cariotipagem , Mutação , Transglutaminases , Genética
15.
National Journal of Andrology ; (12): 431-435, 2018.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-689738

RESUMO

<p><b>Objective</b>To identify the etiology of chromosome abnormality in an infertile man and analyze the correlation between the genotype and phenotype.</p><p><b>METHODS</b>We analyzed the karyotype of an infertile male using the routine G-banding technique and then the chromosome abnormality of the patient by Illumina Human CytoSNP-12 Beadchip array.</p><p><b>RESULTS</b>Negative results were found in the examination of the sex-determining region Y (SRY) gene and the STR locus in the AZF zone of the patient. The karyotype of the patient was 46, XX. SNP array showed a 1.05 Mb 19p12 duplication and a 0.93 Mb Xq27.1 duplication.</p><p><b>CONCLUSIONS</b>The patient was confirmed as a case of 46,XX male syndrome. The increased copies of the FGF13 gene may be the major causes of abnormal sex determination and testis development.</p>


Assuntos
Transtornos Testiculares 46, XX do Desenvolvimento Sexual , Diagnóstico , Genética , Aberrações Cromossômicas , Bandeamento Cromossômico , Testes Genéticos , Humanos , Infertilidade Masculina , Genética , Cariótipo , Cariotipagem , Masculino , Fenótipo , Proteína da Região Y Determinante do Sexo , Genética
16.
National Journal of Andrology ; (12): 65-68, 2017.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-812808

RESUMO

Objective@#To explore the relationship between the clinical and genetic features of a short-statured azoospermia male with the karyotype of 45,X.@*METHODS@#Using GTG-banded chromosome analysis, we performed karyotyping for a 150 cm-high infertile male with azoospermia and investigated the presence and location of the genes on the Y chromosome by FISH and PCR.@*RESULTS@#GTG-banded chromosome analysis showed the karyotype of the patient to be 45,X,add(14)(p11). The results of PCR manifested the deletion of AZFa, AZFb, AZFc, and AZFd in the SRY gene. FISH revealed the translocation of the short arm of the Y chromosome to that of chromosome 14 and deletion of most proportions of its long arm, with the disruption site close to the centromere region. The karyotype of the patient was 45,X,der(Y)t(Y;14)(q11;q11.2), 14.ish (SRY+, CEP Y+ , DYZ1-).@*CONCLUSIONS@#The karyotype of the patient was unbalanced Y/14 translocation. The SRY gene is the key to maleness. The deletion of AZFa- d induces spermatogenic disturbance, and the deletion of the q arm of the Y chromosome may be related with short stature.


Assuntos
Azoospermia , Genética , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 14 , Genética , Cromossomos Humanos Y , Genética , Disgenesia Gonadal , Genética , Humanos , Infertilidade Masculina , Genética , Cariotipagem , Métodos , Masculino , Reação em Cadeia da Polimerase , Fatores de Transcrição SOXB1 , Genética , Translocação Genética , Genética
17.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335173

RESUMO

<p><b>OBJECTIVE</b>To explore the genetic cause of a female case with intellectual development disorder.</p><p><b>METHODS</b>G banding karyotyping was performed for the patient. Following DNA extraction, the coding sequence of SRY gene was amplified with PCR and subjected to Sanger sequencing. qPCR was used to detect the copy numbers of the SRY gene.</p><p><b>RESULTS</b>The karyotype of the patient was 47,XXY. PCR and qPCR analyses of the SRY gene showed a large deletion with null copy number.</p><p><b>CONCLUSION</b>The female phenotype of the patient is probably due to deletion of the SRY gene on the Y chromosome. This is the first report of 47,XXY female case with deletion of the SRY gene in China.</p>


Assuntos
Sequência de Bases , Bandeamento Cromossômico , Cromossomos Humanos Y , Genética , Feminino , Genes sry , Genética , Humanos , Deficiência Intelectual , Genética , Cariótipo , Cariotipagem , Síndrome de Klinefelter , Genética , Masculino , Reação em Cadeia da Polimerase , Literatura de Revisão como Assunto , Análise de Sequência de DNA , Métodos , Deleção de Sequência , Homologia de Sequência do Ácido Nucleico
18.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335159

RESUMO

<p><b>OBJECTIVE</b>To explore the origin and mechanism of small supernumerary marker chromosomes (sSMC) in order to facilitate genetic counseling.</p><p><b>METHODS</b>Chromosome karyotypes of two fetuses and their immediate family members were analyzed by conventional G banding. High-throughput whole genome sequencing was used to determine the origin of sSMCs.</p><p><b>RESULTS</b>Fetus 1 was shown to have a karyotype of 47,XY,+mar but with normal FISH and B ultrasound findings. Its father also had a 47,XY,+mar karyotype with normal FISH results and clinical phenotype. High-throughput genome sequencing revealed that fetus 1 and its father were both 46,XY,dup(21)(q11.2;q21.1) with a 6.2 Mb duplication of the long arm of chromosome 21. The fetus was born with normal phenotype and developed well. Its grandmother also had a karyotype of 46,XX,t(15;21)(q13;p13) with normal FISH result and clinical phenotype. The karyotypes of its mother and grandfather were both normal. Analysis of fetus 2 showed a 47,XY,+mar karyotype with normal FISH results. High-throughput genome sequencing suggested a molecular karyotype of 46,XX. The fetus was born with normal phenotype and developed well. The karyotypes of its parents were both normal.</p><p><b>CONCLUSION</b>Considering their variable origins, identification of sSMC should combine conventional G banding analyses with high-throughput whole genome sequencing for precise delineation of the chromosomes.</p>


Assuntos
Adulto , Líquido Amniótico , Química , Bandeamento Cromossômico , Transtornos Cromossômicos , Diagnóstico , Embriologia , Genética , Citogenética , Feminino , Doenças Fetais , Diagnóstico , Genética , Marcadores Genéticos , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal , Adulto Jovem
19.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335146

RESUMO

<p><b>OBJECTIVE</b>To use combined G-banding and array-comparative genomic hybridization (aCGH) for the prenatal diagnosis of a fetus with 5q35 deletion syndrome.</p><p><b>METHODS</b>Chromosomal karotypes of the fetus and parents were analyzed with G-banding analysis. aCGH was performed to detect minor chromosomal structural abnormalities.</p><p><b>RESULTS</b>The karyotype of the fetus was ascertained as 46, XY, t(5;10)(q35;p13), and the karyotypes of the parents were normal. aCGH has identified a de novo 1.68 Mb deletion at 5q35.2q35.3 and a 1.44 Mb duplication at 10p14p13.</p><p><b>CONCLUSION</b>aCGH has a higher resolution and greater accuracy for mapping chromosomal aberrations and is a useful supplement for G banding karyptyping analysis.</p>


Assuntos
Adulto , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 5 , Genética , Hibridização Genômica Comparativa , Síndrome do Miado do Gato , Diagnóstico , Embriologia , Genética , Feminino , Doenças Fetais , Diagnóstico , Genética , Humanos , Cariotipagem , Masculino , Diagnóstico Pré-Natal , Trissomia , Diagnóstico , Genética
20.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335145

RESUMO

<p><b>OBJECTIVE</b>To explore the application of combined techniques for the prenatal diagnosis of a case with 7q11.23 duplication.</p><p><b>METHODS</b>Amniocentesis was performed in the second trimester for a mother with a high risk suggested by serological prenatal screening. G-banded chromosomal analysis was performed on cultured amniocytes and peripheral blood samples from both parents. DNA from amniotic fluid sample was isolated for a BACs-on-Beads (BoBs) assay. To define the range of duplication, copy number variation was determined with single nucleotide polymorphism array (SNP array, Affymetrix CytoScan 750K) and fluorescence in situ hybridization (FISH) analysis.</p><p><b>RESULTS</b>Chromosomal analysis suggested that the fetus and both parents all had a normal karyotype, while a duplication of 7q11.23 was detected by the BoBs assay. SNP array revealed a 1.5 Mb duplication in chromosome 7q11.23, which was confirmed by FISH.</p><p><b>CONCLUSION</b>Combined prenatal BoBs, SNP array and FISH has enabled effective diagnose of a case with 7q11.23 syndrome.</p>


Assuntos
Adulto , Bandeamento Cromossômico , Transtornos Cromossômicos , Diagnóstico , Embriologia , Genética , Cromossomos Humanos Par 7 , Genética , Feminino , Doenças Fetais , Diagnóstico , Genética , Humanos , Masculino , Pessoa de Meia-Idade , Gravidez , Diagnóstico Pré-Natal , Trissomia , Genética
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