Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 1.098
Filter
1.
Neotrop. ichthyol ; 19(4): e210056, 2021. tab, ilus
Article in English | LILACS, VETINDEX | ID: biblio-1351150

ABSTRACT

Moenkhausia is a highly specious genus among the Characidae, composed of 96 valid species. Only twelve species have a known karyotype. Thus, here are presented the first cytogenetic data of two allopatric populations of Moenkhausia bonita and one of M. forestii, both belonging to the upper Paraná River basin (PR) with discussion on the evolutionary and cytotaxonomic aspects of the genus. The two species presented 2n = 50 chromosomes but different karyotype formulas and occurrence of 1-2 B chromosomes. These elements are small metacentrics in M. bonita and small acrocentrics in M. forestii. In both species, B chromosomes were euchromatic. Ag-NOR sites were found in pair 3 (metacentric), coinciding with fluorescent in situ hybridization (FISH) by the 18S rDNA probe in both species. However, the species differed in terms of the number and position of 5S rDNA sites. Heterochromatic blocks, mapped in M. bonita showed the least amount of heterochromatin in the terminal and pericentromeric regions, while the M. forestii karyotype revealed a greater amount of interstitial heterochromatic blocks. The karyotype distinctions between the two species, including the morphology of B chromosomes, may contribute as a reference in the taxonomic studies in this group.(AU)


Moenkhausia é um gênero altamente especioso dentre os Characidae, composto por 96 espécies válidas, mas apenas doze espécies têm seus cariótipos conhecidos. Portanto, são apresentados aqui os primeiros dados citogenéticos de duas populações alopátricas de Moenkhausia bonita e uma de M. forestii, ambas pertencentes à bacia do alto rio Paraná (PR), com uma ampla discussão sobre os aspectos evolutivos e citotaxonômicos do gênero. As duas espécies apresentaram 2n = 50 cromossomos, mas diferentes fórmulas cariotípicas e ocorrência de 1-2 cromossomos B. Esses elementos são pequenos metacêntricos em M. bonita e acrocêntricos pequenos em M. forestii. Em ambas as espécies, os cromossomos B apresentaram-se eucromáticos. Sítios Ag-NOR foram encontrados no par 3 (metacêntrico), coincidindo com a hibridização fluorescente in situ (FISH) pela sonda 18S rDNA em ambas as espécies. No entanto, as espécies diferiram em termos de número e posição dos sítios de 5S rDNA. Blocos heterocromáticos mapeados em M. bonita revelaram pequena quantidade de heterocromatina nas regiões terminal e pericentromérica, enquanto o cariótipo de M. forestii revelou uma maior quantidade de blocos heterocromáticos intersticiais. As distinções cariotípicas entre as duas espécies, incluindo a morfologia dos cromossomos B, podem contribuir como uma referência em estudos taxonômicos neste grupo.(AU)


Subject(s)
Animals , Heterochromatin , Chromosomes , Cytogenetics , Characidae , In Situ Hybridization, Fluorescence
2.
Article in Chinese | WPRIM | ID: wpr-888395

ABSTRACT

OBJECTIVE@#To carry out prenatal diagnosis for a fetus with absent nasal bone by using cytogenetic and molecular techniques.@*METHODS@#Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) assays were applied for the diagnoses. Peripheral blood samples were also taken from the parents for chromosomal karyotyping and FISH analysis.@*RESULTS@#The fetus was found to have a 46,XX,add(21)(p11.2) karyotype, and SNP-array has revealed a 11.3 Mb duplication at 21q22.12q22.3 (hg19: 36 762 648-48 093 361), which was confirmed by FISH. Both parents were found to be normal by chromosomal karyotyping and FISH analysis. The fetus was ultimately found to have a karyotype of 46,XX,der(21)t(21;21)(p11.2;q22.1), resulting a de novo partial trisomy of 21q22.1.@*CONCLUSION@#Combined use of various techniques has enabled accurate prenatal diagnosis and genetic counseling for the fetus.


Subject(s)
Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Nasal Bone , Pregnancy , Prenatal Diagnosis , Trisomy/genetics
3.
Article in Chinese | WPRIM | ID: wpr-888392

ABSTRACT

OBJECTIVE@#To review the clinical data of a fetus with false positive result of non-invasive prenatal testing (NIPT) due to confined placental mosaicism (CPM).@*METHODS@#Amniotic fluid sample was taken from a pregnant women with high risk for chromosome 16 aneuploidy for karyotyping analysis, single nucleotide polymorphism array (SNP array) and interphase fluorescence in situ hybridization (FISH). Genetic testing was also conducted on the fetal and maternal surface of the placenta, root of umbilical cord and fetal skin tissue after induced abortion.@*RESULTS@#Cytogenetic analysis of the amniotic fluid sample yielded a normal karyotype. SNP array revealed mosaicism (20%) of trisomy 16 in the fetus. FISH confirmed the presence of mosaicism (25%) for trisomy 16. After induced labor, all sampled sites of placenta were confirmed to contain trisomy 16 by SNP array, while the analysis of fetal skin tissue yielded a negative result.@*CONCLUSION@#CPM is an important factor for false positive NIPT result. Prenatal identification of CPM and strengthened pregnancy management are important to reduce adverse pregnancy outcomes.


Subject(s)
Amniocentesis , Chromosomes, Human, Pair 16/genetics , Cytogenetic Analysis , Female , Fetus , Humans , In Situ Hybridization, Fluorescence , Molecular Biology , Mosaicism , Placenta , Pregnancy , Prenatal Diagnosis , Trisomy/genetics
4.
Article in Chinese | WPRIM | ID: wpr-878429

ABSTRACT

OBJECTIVES@#To evaluate the effects of antimicrobial peptide GH12 designed @*METHODS@#The cariogenic three-species biofilm consis-ted of the cariogenic @*RESULTS@#The biomass and density of the cariogenic three-species biofilm treated with GH12 decreased compared with those of the control. The number of @*CONCLUSIONS@#GH12 can reduce the number of


Subject(s)
Biofilms , Dental Caries , Humans , In Situ Hybridization, Fluorescence , Pore Forming Cytotoxic Proteins , Streptococcus mutans
5.
Article in Chinese | WPRIM | ID: wpr-922035

ABSTRACT

OBJECTIVE@#To carry out genetic analysis and parental tracing for a fetus with an inconclusive chromosomal karyotype.@*METHODS@#The fetus and its parents were subjected to combined chromosomal karyotyping, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH) and multiplex PCR testing for Y chromosome microdeletions.@*RESULTS@#The fetus was found to have a karyotype of 45,X[18]/46,X,+mar[72]. CMA revealed that the fetus has carried a 2.6 Mb duplication at Yp11.32p11.31 and a 44.5 Mb deletion at Yq11.21q12. Interphase FISH of amniocytes confirmed the chromosomal mosaicism in the fetus, which has derived from Y chromosome. Multiplex PCR revealed deletion of AZFb and AZFc regions on the Y chromosome. No karyotypic abnormality was found with either parent at 400-band level.@*CONCLUSION@#Combined genetic analysis has delineated the aberrant karyotype in the fetus, which has facilitated prediction of its clinical phenotype and genetic counseling.


Subject(s)
Chromosomes, Human, Y/genetics , Female , Fetus , Humans , In Situ Hybridization, Fluorescence , Karyotype , Mosaicism , Pregnancy , Prenatal Diagnosis
6.
Article in Chinese | WPRIM | ID: wpr-922033

ABSTRACT

OBJECTIVE@#To provide genetic counseling for a couple with recurrent detection of fetal structural abnormality during second trimester pregnancy.@*METHODS@#The fetal tissue and peripheral blood samples of the couple were subjected to G banded chromosomal analysis, copy number variation sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) assays.@*RESULTS@#CNV-seq has detected a 6.59 Mb duplication at 7p22.3-p22.1 and a 3.81 Mb deletion at 4p16.3 in the fetal tissue, though conventional karyotyping results of both parents were normal. FISH has confirmed that the father has harbored a cryptic translocation of t(4;7)(7p+,4q+,4p+,7q+).@*CONCLUSION@#The ultrasonographic abnormality of the fetuses may be attributed to the 7p microduplication and 4p microdeletion derived from the cryptic translocation carried by the father. Reciprocal translocation of tiny chromosomal segments should be suspected for couples with recurrent adverse pregnancies but apparently normal karyotypes.


Subject(s)
Chromosome Disorders , DNA Copy Number Variations , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Pregnancy , Translocation, Genetic
7.
Article in Chinese | WPRIM | ID: wpr-922016

ABSTRACT

The International System for Human Cytogenomic Nomenclature (ISCN) is an international standard used for describing genome rearrangement detected by chromosomal karyotyping, fluorescence in situ hybridization, microarray, a variety of specific region detection technologies and high-throughput sequencing. In 2019, the ISCN standing committee has revised the ISCN and officially published it in October 2020. This article has summarized the updated content of ISCN 2020.


Subject(s)
Chromosome Aberrations , Chromosomes , High-Throughput Nucleotide Sequencing , Humans , In Situ Hybridization, Fluorescence , Karyotyping
8.
Article in Chinese | WPRIM | ID: wpr-921985

ABSTRACT

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.


Subject(s)
Chromosome Disorders/genetics , Chromosomes, Human, Pair 12/genetics , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Pregnancy
9.
Article in Chinese | WPRIM | ID: wpr-921976

ABSTRACT

OBJECTIVE@#To perform prenatal diagnosis, pedigree analysis, and genetic counseling of a pregnant woman who gave birth to a child with Kleefstra syndrome.@*METHODS@#Karyotype analysis, chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH) were used of peripheral blood and amniotic fluid to find causes. Recurrence risk assessment was performed later.@*RESULTS@#The amniotic fluid sample showed a 9q34.3 microduplication of arr (hg19) 9q34.3 (140 168 806-141 020 389)× 3, which overlapped the 9q34.3 microdeletion region of proband. The pregnant woman was detected with a balanced translocation of ish, t(9;17)(9q34.3; qter) (9p+; 17p+,9q+, 17q+). No other abnormal results were found in the family.@*CONCLUSION@#Offspring who share the same chromosome segment deletion or duplication are always from parent who carries balanced chromosomal structural aberration.


Subject(s)
Chromosome Aberrations , Chromosome Deletion , Chromosomes, Human, Pair 9/genetics , Female , Genetic Testing , Humans , In Situ Hybridization, Fluorescence , Pregnancy
10.
Article in Chinese | WPRIM | ID: wpr-921958

ABSTRACT

OBJECTIVE@#To identify the etiology of a patient with severe symptoms of DMD and to trace its pathogenic gene, so as to provide a basis for genetic counseling and clinical intervention.@*METHODS@#Multiple ligation-dependent probe amplification (MLPA) technique was used to analyze exon deletion/repetitive variant of DMD gene, and further analysis was performed by chromosome G-banding, fluorescence in situ hybridization (FISH) and SNP array analysis.@*RESULTS@#The MLPA results of the proband showed that the exon 1-79 of DMD gene were deleted, the G-banding karyotype of blood sample was 46, XY, and the deletion of the short arm of X chromosome was found by FISH. SNP array results showed that 5.8Mb (29 628 158-35 434 714) deletion occurred in the Xp21.2p21.1 region of X chromosome, and the patient was diagnosed as the contiguous deletion syndrome involving the genes of IL1RAPL, MAGEB1-4, ROB, CXorf2, GM, AP3K7IP, FTHL1, DMD, FAM47A, TMEM47, and FAM47B.@*CONCLUSION@#The exact pathogenic site of this family is the deletion of 5.8 Mb (29 628 158-35 434 714) in the Xp21.2p21.1 region of X chromosome, which can be used for prenatal diagnosis. High resolution SNP array technique plays an important role in detecting potential chromosome abnormalities in patients.


Subject(s)
Dystrophin/genetics , Exons , Female , Gene Deletion , Humans , In Situ Hybridization, Fluorescence , Muscular Dystrophy, Duchenne/genetics , Pregnancy , Prenatal Diagnosis
11.
Article in Chinese | WPRIM | ID: wpr-880152

ABSTRACT

OBJECTIVE@#To summarize and compare the clinical baseline characteristics of patients with monoclonal gammopathy of undetermined significance (MGUS), primary light chain amyloidosis (pAL), multiple myeloma (MM), or MM with concurrent amyloidosis, especially the differences in cytogenetic abnormalities.@*METHODS@#The clinical data of 15 cases of MGUS, 34 cases of pAL, 842 cases of MM and 23 cases of MM with concurrent amyloidosis were analyzed and compared retrospectively.@*RESULTS@#Cytogenetic statistics showed that the incidence of t (11; 14) in the four groups (MGUS vs pAL vs MM vs MM with concurrent amyloidosis) was 0%, 33.3%, 16.4%, and 15.8%, respectively (P=0.037); that of 13q deletion was 20.0%, 14.7%, 45.8% and 56.5%, respectively (P<0.001); gain of 1q21 was 50.0%, 12.5%, 47.4% and 40.9%, respectively (P=0.001). Proportion of pAL patients with 0, 1 and≥2 cytogenetic abnormalities (including 13q deletion, 17p deletion, 1q21 amplification and IgH translocation) accounted for 41.9%, 41.9% and 16.1%, respectively; while the proportion of the same category in MM was 17.6%, 27.3%, and 55.2% respectively; this ratio of MM with concurrent amyloidosis was more similar to MM. Subgroup analysis showed that genetic abnormalities (including 13q deletion, 17p deletion and 1q21 amplification) were comparable within t (11; 14) negative and positive groups. Compared with positive cases, t(11; 14) negative patients with MM or MGUS were more likely to have 13q deletions and multiple genetic abnormalities.@*CONCLUSION@#Clinical characteristics of pAL, especially cytogenetic abnormalities, are significantly different from MM with concurrent amyloidosis. It suggests that although the onset characteristics are similar, actually the two diseases belong to different disease subtypes which should be carefully predicted and identified.


Subject(s)
Amyloidosis , Humans , In Situ Hybridization, Fluorescence , Monoclonal Gammopathy of Undetermined Significance/complications , Multiple Myeloma , Retrospective Studies
12.
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
13.
Article in Chinese | WPRIM | ID: wpr-879629

ABSTRACT

OBJECTIVE@#To determine the chromosomal karyotype of a fetus with copy number variation (CNV) of the X chromosome signaled by non-invasive prenatal testing (NIPT).@*METHODS@#NIPT was performed on the peripheral blood sample taken from the pregnant women. Amniotic fluid and cord blood samples were subjected to conventional G banded karyotyping, and were further analyzed by high-throughput sequencing for chromosome microdeletion/microduplication. The results were then verified by fluorescence in situ hybridization (FISH) on metaphase cells.@*RESULTS@#The NIPT test of pregnant women suggested low risk for 21-trisomy, 18-trisomy, and 13-trisomy, whilst indicated the number of chromosome X to be low. The G banded karyotype of the amniotic fluid and cord blood cells was 46,XX. The result of high-throughput sequencing chromosome microdeletion/microduplication detection was seq[hg19](X)× 1, (Y)× 2. FISH showed a clear red signal at each end of a whole chromosome, and a green signal on the other chromosome, with a karyotype of 46,X,ish idic(Y) (q11.23) (SRY++, DXZ1+). C banding showed that there is a dense and a slightly loose centromere at both ends of the Y chromosome, and the parachromatin region was missing. The karyotype of amniotic fluid and cord blood cells was finally determined to be 46,X, pus idic(Y) (q11.23).@*CONCLUSION@#For chromosome anomalies suggested by auxiliary report of NIPT, conventional karyotyping combined with high-throughput sequencing for chromosome microdeletion/microduplication should be adopted for the prevention and reduction of the rate of chromosome microdeletion/microduplication syndromes.


Subject(s)
Chromosome Aberrations , DNA Copy Number Variations , Female , Humans , In Situ Hybridization, Fluorescence , Pregnancy , Prenatal Diagnosis , X Chromosome
14.
Article in Chinese | WPRIM | ID: wpr-879607

ABSTRACT

OBJECTIVE@#To carry out prenatal diagnosis for a fetus with partial 18p deletion detected by non-invasive prenatal testing (NIPT).@*METHODS@#Peripheral blood and amniotic fluid samples of the pregnant woman and her husband were subjected to G-banded chromosomal karyotyping and more accurate chromosomal microarray analysis (CMA). The deletion sites were verified by fluorescence in situ hybridization (FISH) using centromeric probe Cep11 Aqua and telomeric probes Tel11q SO and Tel18 SG.@*RESULTS@#The karyotype of the fetus was determined as 46,XN,del(18)(p11.3). CMA has detected a 6.66 Mb deletion at 18p11.32-p11.31 (136 226-6 796 178). FISH confirmed the presence of a partial deletion at 18p. The mother was found to harbor the same deletion by chromosomal karyotyping as well as CMA analysis. No abnormality was found with the husband.@*CONCLUSION@#Although the fetus and its mother have both carried the same 18p deletion, no clinical manifestation was detected in the mother, which may be attributed to a low penetrance of the disorder. The fetus had died at 33 weeks of gestation with unknown cause.


Subject(s)
Chromosome Deletion , Female , Fetus , Genetic Testing , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Pregnancy , Prenatal Diagnosis
15.
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
16.
Article in Chinese | WPRIM | ID: wpr-879590

ABSTRACT

OBJECTIVE@#To carry out cyto- and molecular genetic testing for a child featuring facial dysmorphism and attention deficit and hyperactive disorder.@*METHODS@#The child was subjected to routine peripheral blood lymphocyte chromosomal karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism array (SNP-array) analyses.@*RESULTS@#The child's facial dysmorphism included low-set ears, curly ear auricle, protuberance of eyebrow arch, nostril notch, short and flat philtrum and thin upper lip. SNP-array revealed that he has carried a 4.883 Mb deletion at 2q37. His chromosomal karyotype was ultimately determined as 45, XY, der(2;21) (2pter→ 2q37.3::21p13→ 21p10::20p10→ 20pter), der(20) (21qter→ 21q10::20q10→ 20qter).@*CONCLUSION@#A rare case of 2q37 deletion syndrome involving three chromosomes was discovered. Combined use of various cyto- and molecular genetic techniques is crucial for the diagnosis of chromosomal abnormalities with complex structures.


Subject(s)
Child , Chromosome Deletion , Chromosomes , Chromosomes, Human, Pair 2 , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male , Translocation, Genetic
17.
Article in Chinese | WPRIM | ID: wpr-879589

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a neonate with Pierre-Robin sequence.@*METHODS@#The child was subjected to chromosomal karyotyping, single nucleotide polymorphism array (SNP-array)-based comparative genomic hybridization and fluorescence in situ hybridization (FISH) analysis.@*RESULTS@#The child has featured microgthnia, glossoptosis, upper airway obstruction, mandible dehiscence and short neck. He was found to have a karyotype of 46,XY,der(4)add(4)(q34). Her mother's karyotype was determined as 46,XX,t(1;4)(q43;q34), while his father was 46,XY. SNP-array analysis suggested the child to be arr [hg19] 1q42.2q44 (232 527 958-249 202 755)× 3; 4q34.3q35.2 (168 236 901-190 880 409)× 1. The result of SNP-array for both parents was normal. FISH analysis confirmed that his mother has carried a balanced t(1;4)(q42;34) translocation. The aberrant chromosome 4 in the child has derived from his mother's translocation, which gave rise to partial 1q trisomy and 4q monosomy.@*CONCLUSION@#The 1q42.2q44 duplication and 4q34.3q35.2 deletion of the child probably underlay his abnormal phenotype of Pierre-Robin sequence.


Subject(s)
Child , Comparative Genomic Hybridization , Female , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Male , Monosomy , Pierre Robin Syndrome/genetics , Translocation, Genetic , Trisomy/genetics
18.
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
19.
Rev. cuba. hematol. inmunol. hemoter ; 36(3): e1243, jul.-set. 2020.
Article in Spanish | LILACS, CUMED | ID: biblio-1156443

ABSTRACT

Las neoplasias hematológicas se caracterizan por un gran número y complejidad de alteraciones genéticas, desde la formación de genes de fusión a partir de translocaciones e inversiones cromosómicas hasta mutaciones génicas y alteraciones epigenéticas que han permitido la identificación de nuevos oncogenes y genes supresores de tumores responsables de su etiología. Al abordar el estudio genético de las leucemias se utilizan múltiples técnicas como la citogenética convencional, citogenética molecular (hibridaciónin situ por fluorescencia (FISH), esta última con una mayor sensibilidad, especificidad y rapidez que permiten el diagnóstico, la estratificación pronóstica y seguimiento de la enfermedad. Las técnicas anteriores se integran con técnicas de biología molecular, secuenciación génica, entre otras, que permiten el hallazgo de nuevos marcadores genéticos con una mejor caracterización de las hemopatías malignas y la posibilidad del desarrollo de nuevos fármacos específicos que actúen sobre la diana molecular. El objetivo fue revisar la utilidad de la citogenética y la secuenciación génica en el estudio de la leucemia mieloide aguda y la leucemia linfocítica crónica. Ante las ventajas, desventajas y limitaciones de estas técnicas genéticas es necesario utilizarlas de forma complementaria y nunca excluyente(AU)


Hematological neoplasms are characterized by a large number and great complexity of genetic disorders, from the formation of fusion genes after chromosomal translocations and inversions to gene mutation and epigenetic disorders that have permitted the identification of new oncogenes and tumor-suppressing genes responsible for their etiology. When addressing the genetic study of leukemias, multiple techniques are used, such as conventional cytogenetics, molecular cytogenetics, and fluorescence in situ hybridization (FISH), the latter having the higher degree of sensitivity, specificity and speed, which allow diagnosis, prognostic stratification and follow-up of the disease. The previous techniques are integrated with molecular biology techniques, gene sequencing, among others, which allow discovery of new genetic markers with better characterization of malignant hemopathies and the possibility of developing new specific drugs against the molecular target. The objective was to review the usefulness of cytogenetics and gene sequencing in the study of acute myeloid leukemia and chronic lymphocytic leukemia. Given the advantages, disadvantages and limitations of these genetic techniques, it is necessary to use them in as complementary but never exclusive management ways(AU)


Subject(s)
Humans , Oncogenes , Genetic Markers , In Situ Hybridization, Fluorescence/methods , Hematologic Neoplasms/genetics , Cytogenetics , Epigenomics , Genetic Diseases, Inborn , Molecular Biology , Whole Genome Sequencing/methods
20.
Rev. cuba. pediatr ; 92(2): e822, abr.-jun. 2020. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1126743

ABSTRACT

Introducción: El diagnóstico prenatal mediante la hibridación fluorescente in situ disminuye el tiempo de diagnóstico al no ser necesario el cultivo celular. Objetivo: Describir las características y experiencias del diagnóstico prenatal por hibridación fluorescente in situ en Cuba. Método: En amniocitos in situ se aplicaron sondas CEP y LSI para la detección de aneuploidías de los cromosomas 21,18,13, X y Y y sondas LSI para la detección de deleciones asociadas a síndromes de microdeleción. Resultados: Se remitieron al Centro Nacional de Genética Médica 629 casos de alto riesgo genético. Prevaleció la indicación de alteraciones fetales detectadas por ecografía. En 612 (97 por ciento) casos se obtuvo un diagnóstico satisfactorio, entre ellos, 50 (8,1 por ciento) casos positivos, con predominio del síndrome Down en 26 casos. Se corroboraron por citogenética convencional 312 casos con 98 por ciento de concordancia con los resultados obtenidos por hibridación fluorescente in situ. Se utilizó el líquido amniótico refrigerado para corroborar casos de diagnóstico dudoso obtenido por citogenética y se detectaron 3 fetos con mosaicos cromosómicos, el origen de un cromosoma marcador y la definición del sexo fetal en un caso. Conclusiones: Con la tecnología por hibridación fluorescente in situ el diagnóstico prenatal logra una segura opción de análisis en aquellos casos de embarazos de alto riesgo genético. Debido a limitaciones tecnológicas, la prueba por hibridación fluorescente in situ en células amnióticas en interfase, se ha adaptado a nuestras condiciones, para lograr siempre un diagnóstico seguro con el menor perjuicio posible a la embarazada, el feto y su familia(AU)


Introduction: Prenatal diagnosis by fluorescent in situ hybridization decreases the time of diagnosis not being necessary the cell culture. Objective: To describe the characteristics and experiences of prenatal diagnosis by fluorescent in situ hybridization in Cuba. Method: In in situ amniocytes CEP catheters were applied and LSI for the detection of aneuploidies of the 21,18,13, X and Y chromosomes, and LSI catheters for the detection of deletions associated with microdeletion syndromes. Results: 629 cases of high genetic risk were referred to the National Center of Medical Genetics. There was a prevalence of the indication of fetal abnormalities detected by ultrasound. In 612 (97 percent) cases the diagnosis was achieved in a satisfactory form, among them 50 (8.1 percent) positive cases, with predominance of Down syndrome in 26 cases. There were corroborated 312 cases by conventional cytogenetics with 98 percent of agreement with the results obtained by fluorescent in situ hybridization. It was used the cooled amniotic fluid to corroborate cases of uncertain diagnosis obtained by cytogenetics and there were detected 3 fetuses with chromosomal mosaics, the origin of a marker chromosome and the definition of fetal sex in one case. Conclusions: With the technology by fluorescent in situ hybridization, the prenatal diagnosis achieved a safe analysis option in cases of genetic high-risk pregnancies. Due to technological limitations, the test by fluorescent in situ hybridization in amniotic cells in interphase has adapted to the conditions in order to always achieve a safe diagnosis with the less possible damage to the pregnant women, the fetus and its family(AU)


Subject(s)
Humans , Female , Pregnancy , Prenatal Diagnosis/methods , In Situ Hybridization, Fluorescence/methods , Epidemiology, Descriptive , Retrospective Studies
SELECTION OF CITATIONS
SEARCH DETAIL