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1.
Braz. j. biol ; 83: e243514, 2023. tab, graf
Article in English | MEDLINE, LILACS, VETINDEX | ID: biblio-1278560

ABSTRACT

Abstract Allium sativum L. is an herb of the Alliaceae family with a specific taste and aroma and medicinal and nutraceutical properties that are widely marketed in several countries. Brazil is one of the largest importers of garlic in the world, despite of its production is restricted and limited to internal consumption. Thus, explore the genetic diversity of commercial garlic conserved at germplasm banks is essential to generate additional genetic information about its economically important crop. A suitable tool for this purpose is the cytogenetic characterisation of these accessions. This study aimed to characterise the cytogenetic diversity among seven accessions of garlic from a Germplasm Bank in Brazil. The karyotypes were obtained by conventional staining and with chromomycin A3 (CMA) and 4,6-diamidino-2-phenylindole (DAPI) fluorochromes. All accessions analysed showed chromosome number 2n = 16, karyotype formula 6M+2SM, symmetrical karyotypes, reticulate interphase nuclei, and chromosomes with uniform chromatin condensation from prophase to metaphase. The fluorochromes staining showed differences in the amount and distribution of heterochromatin along the chromosomes and between accessions studied. Based on the distribution pattern of these small polymorphisms, it was possible to separate the seven accessions into three groups. It was also possible to differentiate some of the accessions individually. One of the results obtained showed a heteromorphic distension of the nucleolar organiser region observed on the chromosome pairs 6 or 7 with peculiar characteristics. It was suggested for example, that the heteromorphic block of heterochromatin (CMA+++/DAPI-) on chromosome 6 of the "Branco Mineiro Piauí" accession can be used as a marker to identify this genotype or may be associated with some character of economic interest.


Resumo Allium sativum L. é uma erva da família Alliaceae com sabor e aroma específicos e propriedades medicinais e nutracêuticas amplamente comercializada em diversos países. O Brasil é um dos maiores importadores de alho do mundo, apesar da sua produção ser restrita e limitada ao consumo interno. Assim, explorar a diversidade genética do alho comercial conservado em bancos de germoplasma é essencial para fornecer informações genéticas adicionais acerca dessa cultura economicamente importante. Uma ferramenta adequada para esse fim é a caracterização citogenética desses acessos. Este estudo teve como objetivo caracterizar a diversidade citogenética entre sete acessos de alho de um Banco de Germoplasma no Brasil. Os cariótipos foram obtidos por coloração convencional e com os fluorocromos de cromomicina A3 (CMA) e 4,6-diamidino-2-fenilindol (DAPI). Todos os acessos analisados ​​apresentaram número cromossômico 2n = 16, fórmula cariotípica 6M + 2SM, cariótipos simétricos, núcleos reticulados em intérfase e cromossomos com condensação uniforme da cromatina da prófase para a metáfase. A coloração com fluorocromos mostrou diferenças na quantidade e distribuição de heterocromatina ao longo dos cromossomos e entre os acessos estudados. Com base no padrão de distribuição desses pequenos polimorfismos, foi possível separar os sete acessos em três grupos. Também foi possível diferenciar individualmente alguns dos acessos. Um dos resultados obtidos mostrou distensão heteromórfica da região organizadora nucleolar observada nos pares dos cromossomos 6 ou 7 com características peculiares. Foi sugerido, por exemplo, que o bloco heteromórfico de heterocromatina (CMA +++ / DAPI-) no cromossomo 6 do acesso "Branco Mineiro Piauí" pode ser usado como um marcador para identificar esse genótipo ou pode estar associado a algum caráter de interesse econômico.


Subject(s)
Garlic , Brazil , Heterochromatin/genetics , Chromosome Banding , Karyotype , Karyotyping
2.
Article in Chinese | WPRIM | ID: wpr-888391

ABSTRACT

OBJECTIVE@#To carry out genetic testing for a pregnant woman with mild mental retardation, facial dysmorphism, and a history of adverse pregnancies and provide prenatal diagnosis for her.@*METHODS@#Routine G-banded karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis were performed on the couple and amniotic fluid sample.@*RESULTS@#No karyotypic abnormality was found with the couple and amniotic fluid sample. SNP-array analysis showed that the woman has carried a 7.801 Mb microdeletion in 10q22.3q23.2, which involved 18 OMIM genes including CDHR1, BMPR1A, NRG3, GRID1 and LDB3, which are associated with facial abnormalities, developmental retardation, mental retardation and autism. The fetus also carried a 7.819 Mb deletion in the same region, while the father showed no abnormality.@*CONCLUSION@#Both the pregnant woman and her fetus have carried a 10q22.3q23.2 microdeletion, which has provided guidance for her subsequent pregnancy.


Subject(s)
Cadherins , Chromosome Banding , Chromosome Deletion , Female , Fetus , Genetic Testing , Humans , Karyotyping , Nerve Tissue Proteins , Pregnancy , Prenatal Diagnosis
3.
Article in Chinese | WPRIM | ID: wpr-879631

ABSTRACT

OBJECTIVE@#To delineate the nature and origin of a chromosomal aberration detected in a boy with mental retardation.@*METHODS@#The proband and his parents were subjected to routine G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.@*RESULTS@#The karyotype of the proband was determined as 46, XX, add(8)(p23). No karyotypic abnormality was detected in either of his parents. SNP-array has identified a 34.9 Mb duplication at 8p23.1q11.1 and a 6.78 Mb microdeletion at 8p23.1pter in the proband. No copy number variation was detected in either parent.@*CONCLUSION@#The child was diagnosed with 8p inverted duplication deletion syndrome, which might be induced by non-allelic homologous recombination between olfactory genes in the 8p23.1 region.


Subject(s)
Child , Chromosome Banding , Cytogenetic Analysis , Genetic Testing , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male
4.
Article in Chinese | WPRIM | ID: wpr-879591

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child featuring short stature, saddle nose, cryptorchidism and mental retardation.@*METHODS@#The child and his parents were subjected to G-banded karyotyping and chromosomal microarray analysis (CMA).@*RESULTS@#The child was found to have a 46,Y,der(X)t(X;Y)(p22;q11)mat karyotype. CMA has revealed a 8.3 Mb deletion at Xp22.33p22.31 and a 43.3 Mb duplication at Yq11.221qter. His mother had a karyotype of 46,X,der(X)t(X;Y)(p22;q11). His father had a normal karyotype.@*CONCLUSION@#The child has carried an unbalanced translocation der(X)t(X;Y) (p22;q11) derived from his mother. His clinical phenotype has correlated with the size and position of X chromosome deletion. Compared with the females, abnormal phenotypes such as mental retardation and growth retardation of male carriers are more severe.


Subject(s)
Child , Chromosome Banding , Chromosomes, Human, X/genetics , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male , Translocation, Genetic
5.
Article in Chinese | WPRIM | ID: wpr-879567

ABSTRACT

OBJECTIVE@#To delineate the origin and structure of 3 cases of small supernumerary marker chromosomes (sSMCs) through cytogenetic and molecular genetic analysis.@*METHODS@#Conventional G, C and N banding were carried out to analyze the chromosomal karyotypes. Chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were used to delineate the origin and structure of the sSMCs.@*RESULTS@#In case 1, chromosomal karyotype of peripheral blood sample was 47,XY,+mar. This de novo sSMC was a dual-satellited dicentric inverted duplicated marker chromosome, for which CMA yielded a normal result. It was predicted to not increase the risk of offspring. In case 2, the fetal chromosomal karyotype was 47,XY,+mar[17]/46,XY[33]. Chromosomal banding suggested that this de novo segment contained euchromatin, and the result of CMA was arr[hg19] 5p12q11.1(45 694 574-49 475 697) × 3. FISH showed the sSMC to be a fragment derived from 5p12 containing the HCN1 gene. Case 3 was found to have a fetal karyotype of 45,XY,-13[25]/46,XY,r(13)[18]/46,XY,-13,+mar[7]. Both parents had refused further examination.@*CONCLUSION@#Conventional chromosomal banding combined with molecular methods can delineate the origin and structure of the sSMCs, which can help with prediction of their pathogenicity and facilitate genetic counseling.


Subject(s)
Chromosome Banding , Chromosome Disorders , Cytogenetics , Humans , In Situ Hybridization, Fluorescence , Karyotyping
6.
Article in Chinese | WPRIM | ID: wpr-879542

ABSTRACT

OBJECTIVE@#To explore the genetic etiology for a newborn with corneal opacity.@*METHODS@#The neonate and her parents were subjected to routine G-banding chromosomal karyotyping analysis. Copy number variation (CNV) was analyzed with low-coverage whole-genome sequencing (WGS) and single nucleotide polymorphism microarray (SNP array).@*RESULTS@#No karyotypic abnormality was found in the newborn and her parents. Low-coverage WGS has identified a de novo 5.5 Mb microdeletion at chromosome 8q21.11-q21.13 in the neonate, which encompassed the ZFHX4 and PEX2 genes. The result was confirmed by SNP array-based CNV analysis.@*CONCLUSION@#The newborn was diagnosed with chromosome 8q21.11 deletion syndrome. ZFHX4 may be one of the key genes underlying this syndrome.


Subject(s)
Chromosome Banding , Chromosomes, Human, Pair 8/genetics , DNA Copy Number Variations , Female , Genetic Testing , Homeodomain Proteins/genetics , Humans , Infant, Newborn , Karyotyping , Monosomy/genetics , Peroxisomal Biogenesis Factor 2/genetics , Polymorphism, Single Nucleotide , Transcription Factors/genetics
7.
Article in Chinese | WPRIM | ID: wpr-922034

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with mental retardation.@*METHODS@#G-banded karyotyping analysis and single nucleotide polymorphism microarray (SNP array) were used to detect the genetic variants within the family, and the origin of the variants was analyzed using UPDtool Statistics software.@*RESULTS@#The patient, a 26-year-old female, was found to have a chromosomal karyotype of 46,XX,dup(4)(q28.2q31.3),and SNP array revealed a 25.71 Mb duplication at 4q28.2-q31.3. The duplication was inherited from her father, and her fetus was found to carry the same duplication.@*CONCLUSION@#The duplication of the patient probably underlay the mental retardation. The gender of the carrier and parental origin of the duplication might have led to the variation in their clinical phenotype.


Subject(s)
Adult , Chromosome Banding , Female , Genetic Testing , Humans , Karyotyping , Male , Pedigree , Trisomy/genetics
8.
Article in Chinese | WPRIM | ID: wpr-879488

ABSTRACT

OBJECTIVE@#To explore the pathogenesis and genetic characteristics of a fetus with a der(X)t(X;Y)(p22.3;q11.2) karyotype.@*METHODS@#G-banding karyotyping analysis, BoBs (BACs-on-Beads) assay, and single nucleotide polymorphism array (SNP-array) were used to delineate the structural chromosomal aberration of the fetus. The parents of the fetus were also subjected to karyotyping analysis.@*RESULTS@#The fetus and its mother were both found to have a karyotype of 46,X,add(X)(p22), while the father was normal. BoBs assay indicated that there was a lack of Xp22 but a gain of Yq11 signal. SNP-array confirmed that the fetus and its mother both had a 7.13 Mb deletion at Xp22.33p22.31 (608 021-7 736 547) and gain of a 12.52 Mb fragment at Yq11.221q11.23 (16 271 151-28 788 643).@*CONCLUSION@#The fetus was determined to have a karyotype of 46,X,der(X)t(X;Y)(p22.3;q11.2)mat. The combined use of various methods has facilitated delineation of the fetal chromosomal aberration and prediction of the risk prediction for subsequent pregnancy.


Subject(s)
Chromosome Banding , Chromosome Deletion , Chromosomes, Human, X/genetics , Chromosomes, Human, Y/genetics , Female , Fetus , Humans , Karyotyping , Male , Pregnancy , Prenatal Diagnosis , Translocation, Genetic
9.
Article in Chinese | WPRIM | ID: wpr-879487

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child featuring developmental delay, intelligent disability and language deficit.@*METHODS@#Peripheral blood samples of the child and her parents were collected for routine G-banding karyotyping analysis and single nucleotide polymorphism array (SNP array) detection. Amniotic fluid was also sampled from the mother for karyotyping analysis and SNP array detection.@*RESULTS@#No karyotypic abnormality was found with the child and her parents. SNP array showed that the child has carried a 761.4 kb microdeletion at 16p11.2, while her mother has carried a 444.4 kb microduplication at 15q13.3. Her father's result was negative. Further analysis showed that the 15q13.3 microduplication was inherited from her maternal grandfather who was phenotypically normal. Prenatal diagnosis showed that the fetus has inherited the15q13.3 microduplication from its mother.@*CONCLUSION@#The child has carried a de novo 16p11.2 microdeletion, which overlaps with 16p11.2 microdeletion syndrome region, in addition with similar clinical phenotypes. The 16p11.2 microdeletion probably underlies her abnormal phenotype.


Subject(s)
Child , Chromosome Banding , Chromosome Deletion , Chromosomes, Human, Pair 16 , Developmental Disabilities/genetics , Female , Fetus , Humans , Karyotyping , Polymorphism, Single Nucleotide , Pregnancy , Prenatal Diagnosis
10.
Article in Chinese | WPRIM | ID: wpr-879486

ABSTRACT

OBJECTIVE@#To carry out genetic diagnosis for a fetus.@*METHODS@#Chromosome G-banding and chromosomal microarray analysis (CMA) were carried out for a fetus with abnormal morphology of lateral cerebral fissure.@*RESULTS@#The karyotype of the fetus was normal, but CMA showed that it has carried a 1.4 Mb deletion at 17p13.3 region, which suggested a diagnosis of Miller-Dieker syndrome (MDS).@*CONCLUSION@#Familiarity with clinical features and proper selection of genetic testing method are crucial for the diagnosis of MDS. Attention should be paid to microdeletions and microduplications which can be missed by conventional chromosomal karyotyping.


Subject(s)
Chromosome Banding , Chromosome Deletion , Chromosomes, Human, Pair 17 , Classical Lissencephalies and Subcortical Band Heterotopias/genetics , Female , Fetus , Humans , Karyotyping , Pregnancy , Prenatal Diagnosis
11.
Article in Chinese | WPRIM | ID: wpr-879472

ABSTRACT

OBJECTIVE@#To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements.@*METHODS@#The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and fluorescence in situ hybridization (FISH).@*RESULTS@#The combined analysis revealed chromosomal abnormalities in all of the three children, including 46,X,t(X;Y)(p22.3;q11.2) in case 1, mos 45,X,der(7)pus dic(Y:7)(p11.3p22)del(7)(p21.2p21.3) del(7)(p12.3p14.3) [56]/45,X [44] in case 2, and mos 45,X [50]/46,X,idic(Y)(q11.22) [42]/47,X,idem×2 [4]/47,XYY [2] in case 3.@*CONCLUSION@#Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. Above findings have enabled molecular diagnosis and genetic counseling for the patients.


Subject(s)
Child , Chromosome Banding , Chromosomes, Human, Y/genetics , DNA Copy Number Variations , Humans , In Situ Hybridization, Fluorescence , Male , Polymorphism, Single Nucleotide , Sex Chromosome Aberrations , Sex Chromosome Disorders of Sex Development/genetics
12.
Article in Chinese | WPRIM | ID: wpr-826551

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with supravalvular aortic stenosis.@*METHODS@#The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) analysis.@*RESULTS@#No karyotypic abnormality was detected in the child and his parents. aCGH has identified a de novo 278 kb deletion encompassing the ELN gene in 7q11.23, which overlapped with the critical region of Williams-Beuren syndrome (WBS). MLPA has confirmed above findings.@*CONCLUSION@#The proband was diagnosed with atypical WBS. Deletion of the ELN gene may predispose to supravalvular aortic stenosis in the proband.


Subject(s)
Aortic Stenosis, Supravalvular , Genetics , Child , Chromosome Banding , Chromosomes, Human, Pair 7 , Genetics , Comparative Genomic Hybridization , Gene Deletion , Genetic Testing , Humans , Williams Syndrome , Genetics
13.
Article in Chinese | WPRIM | ID: wpr-826540

ABSTRACT

OBJECTIVE@#To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities.@*METHODS@#Chromosomal karyotypes of the proband and his parents were determined by routine G-banding analysis. Genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array).@*RESULTS@#The karyotype of the proband was 46,X,add(Y)(q11.23). No karyotypic abnormality was detected in either parent. SNP array has identified a de novo 21.6 Mb duplication at 22q12qter in the proband.@*CONCLUSION@#The de novo 22q12qter duplication probably underlies the abnormalities in the proband.


Subject(s)
Abnormalities, Multiple , Genetics , Adult , Child , Chromosome Banding , Chromosomes, Human, Pair 22 , Genetics , Female , Genetic Testing , Humans , Intellectual Disability , Genetics , Karyotyping , Male , Trisomy
14.
Article in Chinese | WPRIM | ID: wpr-781292

ABSTRACT

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.


Subject(s)
Adaptor Proteins, Signal Transducing , Child , Chromosome Banding , Chromosome Duplication , Chromosomes, Human, Pair 15 , Genetics , Developmental Disabilities , Genetics , Female , Humans , Intellectual Disability , Genetics , Karyotyping , Male , Pregnancy , Prenatal Diagnosis
15.
Article in Chinese | WPRIM | ID: wpr-781317

ABSTRACT

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.


Subject(s)
Child , Chromosome Banding , Chromosome Duplication , Female , Genetic Testing , Humans , Hypospadias , Genetics , In Situ Hybridization, Fluorescence , Intellectual Disability , Genetics , Karyotyping , Male , Polymorphism, Single Nucleotide , Pregnancy , Translocation, Genetic
16.
Article in Chinese | WPRIM | ID: wpr-781313

ABSTRACT

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.


Subject(s)
Abnormalities, Multiple , Genetics , Child , Chromosome Banding , Chromosome Deletion , Chromosome Disorders , Chromosomes, Human, Pair 13 , Genetics , Humans , Karyotyping , Male
17.
Article in Chinese | WPRIM | ID: wpr-781312

ABSTRACT

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.


Subject(s)
Adult , Chromosome Banding , Developmental Disabilities , Genetics , Genetic Testing , Heart Defects, Congenital , Genetics , Humans , Karyotyping , Mosaicism , Phenotype , Polymorphism, Single Nucleotide , Uniparental Disomy
18.
Article in Chinese | WPRIM | ID: wpr-781311

ABSTRACT

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.


Subject(s)
Chromosome Aberrations , Chromosome Banding , Female , Fetus , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Polymorphism, Single Nucleotide , Pregnancy , Prenatal Diagnosis
19.
Article in Chinese | WPRIM | ID: wpr-771983

ABSTRACT

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.


Subject(s)
Chromosome Banding , Chromosomes, Human , DNA Copy Number Variations , Fetus , Humans , Karyotyping , Microarray Analysis , Prenatal Diagnosis , Trisomy
20.
Article in Chinese | WPRIM | ID: wpr-771981

ABSTRACT

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.


Subject(s)
Child , Chromosome Banding , Chromosomes, Human, Pair 7 , Female , Genetic Testing , Humans , Karyotyping , Pregnancy , Prenatal Diagnosis , Williams Syndrome , Diagnosis
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