OBJECTIVETo report on clinical and laboratory features of myeloid neoplasms with double del(20q).

METHODSCytogenetic examination of bone marrow was performed on 13 cases of myeloid neophasms with double del(20q) after 24 hours of cell culture. R-banding was used to analyze the karyotypes. Interphase fluorescence in situ hybridization (FISH) was performed using dual-color probes for 20q11/20q12.

RESULTSDouble del(20q) was found to be the sole abnormality in 9 cases, double del(20q) and trisomy 9 was found in 1 case, trisomy del(20q) was found in 1 case, and sole del(20q) clone and double del(20q) clone were found to coexist in 2 cases. In 10 cases, interphase FISH showed one green and one red signal in cells with del(20q), which indicated deletion of both 20q11 and 20q12. Immunophenotyping of the leukemia cells showed positiveness for CD13 and/or CD33, CD117 in all 9 cases. Among these, co-expression of CD34 and/or HLA-DR was found in 6 cases, and coexpression of CD3 and CD7 was found in 1 case. Of the 13 cases, there were one AML-M6, nine MDS, one pure amegalokaryocye aplastic thrombocytopenia, one with normal morphology of bone marrow, and one undetermined due to dilution of the bone marrow by blood. Cytopenia were found in all cases. 9 of 13 cases died, and 4 survived with a median survival of 9 months.

CONCLUSIONDouble del(20q) is a rare but recurrent chromosomal abnormality derived from del(20q). It has unique clinical and laboratory features, and the prognosis is poor.

Aged ; Chromosome Banding ; methods ; Chromosome Deletion ; Female ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes ; genetics ; Neoplasms ; genetics

The cytogenetic analysis of mesenchymal stromal cells (MSCs) is essential for verifying the safety and stability of MSCs. An in situ technique, which uses cells grown on coverslips for karyotyping and minimizes cell manipulation, is the standard protocol for the chromosome analysis of amniotic fluids. Therefore, we applied the in situ karyotyping technique in MSCs and compared the quality of metaphases and karyotyping results with classical G-banding and chromosomal abnormalities with fluorescence in situ hybridization (FISH). Human adipose- and umbilical cord-derived MSC cell lines (American Type Culture Collection PCS-500-011, PCS-500-010) were used for evaluation. The quality of metaphases was assessed by analyzing the chromosome numbers in each metaphase, the overlaps of chromosomes and the mean length of chromosome 1. FISH was performed in the interphase nuclei of MSCs for 6q, 7q and 17q abnormalities and for the enumeration of chromosomes via oligo-FISH in adipose-derived MSCs. The number of chromosomes in each metaphase was more variable in classical G-banding. The overlap of chromosomes and the mean length of chromosome 1 as observed via in situ karyotyping were comparable to those of classical G-banding (P=0.218 and 0.674, respectively). Classical G-banding and in situ karyotyping by two personnel showed normal karyotypes for both cell lines in five passages. No numerical or structural chromosomal abnormalities were found by the interphase-FISH. In situ karyotyping showed equivalent karyotype results, and the quality of the metaphases was not inferior to classical G-banding. Thus, in situ karyotyping with minimized cell manipulation and the use of less cells would be useful for karyotyping MSCs.
Azure Stains ; Chromosome Banding/*methods ; Humans ; In Situ Hybridization, Fluorescence/*methods ; Karyotyping/*methods ; Mesenchymal Stromal Cells/*cytology

OBJECTIVE: To explore the coincidence rate of G-banding karyotype analysis and fluorescence in situ hybridization (FISH) for the diagnosis of children with sex chromosome mosaicisms. METHODS: A retrospective analysis was carried out for 157 children with suspected sex chromosome abnormalities who had presented at Shenzhen Children's Hospital from April 2021 to May 2022. Interphase sex chromosome FISH and G-banding karyotyping results were collected. The coincidence rate of the two methods in children with sex chromosome mosaicisms was compared. RESULTS: The detection rates of G-banding karyotype analysis and FISH were 26.1% (41/157) and 22.9% (36/157) , respectively (P > 0.05). The results of G-banding karyotype analysis showed that 141 cases (89.8%) were in the sex chromosome homogeneity group, of which only 5 cases (3.5%) were inconsistent with the results of FISH. There were 16 cases (10.2%) in the sex chromosome mosaicism group, of which 11 cases (68.8%) were inconsistent with the results of FISH. There was a statistical difference between the two groups in the coincidence rate of the results of the two methods (P < 0.05). CONCLUSION No significant difference was found between G-banding karyotype analysis and FISH in the detection rate of chromosome abnormalities. The coincidence rate in the mosaicism group was lower than that in the homogeneity group, and the difference was statistically significant. The two methods should be combined for clinical diagnosis.
Humans ; Mosaicism ; In Situ Hybridization, Fluorescence/methods* ; Retrospective Studies ; Karyotyping ; Chromosome Aberrations ; Sex Chromosome Aberrations ; Karyotype ; Chromosome Banding ; Sex Chromosomes

OBJECTIVETo explore the pathogenesis of a child with growth retardation, liver damage and congenital heart disease.

METHODSG-banded chromosomal karyotyping, high-throughput next-generation sequencing (HT-NGS)and fluorescence in situ hybridization(FISH) were used to characterize the structural chromosomal aberration.

RESULTSThe child was found to have a karyotype of 46, XX, t(1;2) (q25;q21), t(7;20) (q21;p13). HT-NGS has detected a microdeletion at 2q21.3 and 7q21.11, respectively, which were verified by FISH.

CONCLUSIONCombined cytogenetic and molecular analysis can detect chromosome micrdeletions more precisely. The abnormalities of the child may be attributed to heterozygous deletion of ZEB2, ABCB4 and SEMA3A genes.

Chromosome Aberrations ; Chromosome Banding ; methods ; Female ; Heart Defects, Congenital ; genetics ; Humans ; Infant ; Intellectual Disability ; genetics ; Karyotyping ; methods ; Liver Diseases ; genetics

OBJECTIVETo explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy.

METHODSThe patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array (SNP-array) assaying. The correlation between genomic variations and the phenotype was explored.

RESULTSThe patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal. SNP-array assay has identified a 1.6 Mb microdeletion at chromosome 15q21.3 which involved 15 RefSeq genes and a 0.5 Mb microdeletion at 5q21.1 which involved one RefSeq gene.

CONCLUSIONThe microdeletions, which involved TCF12, ADMA10 and AQP9 genes, probably underlie the mental retardation shown by the patient.

Adult ; Chromosome Banding ; methods ; Chromosome Deletion ; Chromosomes ; genetics ; Female ; Genetic Testing ; methods ; Humans ; Intellectual Disability ; genetics ; Karyotype

OBJECTIVETo carry out chromosomal microarray analysis (CMA) on four fetuses with abnormal karyotypes.

METHODSAmniotic fluid samples were obtained and subjected to routine G-banded karyotyping analysis. CMA was applied for cultured amniocytes to determine alterations of gene dosage and chromosomal breakpoints.

RESULTSAbnormal karyotypes were found in the parents of 3 fetuses. Parental karyotypes of the remaining fetus were normal. Imbalance chromosome rearrangements were revealed by CMA in all 4 cases.

CONCLUSIONCMA is an effective tool for the evaluation of clinical significance and delineation of the breakpoints involved in complex chromosomal rearrangements.

Abnormal Karyotype ; Adult ; Chromosome Banding ; Female ; Humans ; Karyotyping ; Microarray Analysis ; methods ; Pregnancy ; Prenatal Diagnosis

OBJECTIVETo evaluate value of spectral karyotyping (SKY) in the detection of chromosomal abnormalities.

METHODSA total of 17 metaphase chromosome samples were investigated by SKY, including 10 normal and 5 balanced translocation samples of peripheral blood lymphocytes, one der(Y) sample of peripheral blood lymphocytes and one marker chromosome sample of amniotic fluid cells. The results were compared with those of G-banding diagnosis.

RESULTSTen normal and 5 balanced translocation samples were diagnosed successfully by SKY in accordance with the results of G-banding; furthermore, SKY analysis revealed that the der(Y) fragment originated from p-arm of chromosome 21 while the marker chromosome originated from chromosome 5.

CONCLUSIONSKY is a very sensitive and specific whole genome analysis tool for chromosomal abnormality diagnosis, and exceedingly valuable in the diagnosis on complex chromosomal abnormalities that can not be determined by G-banding.

Chromosome Aberrations ; Chromosome Banding ; methods ; Chromosome Disorders ; diagnosis ; genetics ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Sensitivity and Specificity ; Spectral Karyotyping ; methods

OBJECTIVETo perform spectral karyotyping (SKY), fluorescence in situ hybridization (FISH) and conventional karyotyping on prenatally detected marker chromosomes and complex chromosomal aberrations.

METHODSFive marker chromosomes and 2 complex chromosome aberrations diagnosed by G banding were collected. SKY was performed to verify the composition of marker chromosomes. FISH was used to confirm the diagnosis when necessary. In certain cases, C or N banding technique was employed to verify the composition of chromosomes. Results of ultrasonography and pregnancy outcome were reviewed.

RESULTSAmong the 5 marker chromosomes, 2 were large and 3 were medium in size, 4 were de novo and one was inherited from the father. By SKY analysis, 2 marker chromosomes have originated from non-acrocentric chromosomes (4 and 9), whilst the other two have originated from acrocentric chromosomes (21 and 22). The remainder was derived from X chromosome. The SKY results were confirmed by FISH in 3 cases. Four cases have chosen to terminate the pregnancy after genetic counseling. A fetus with inherited paternal marker chromosome was delivered at term, and showed normal development during the first year of life. As for the other 2 cases with complex chromosome aberrations, by SKY examination, one had duplication in chromosome 8 and the other had chromosome rearrangements derived from translocation between chromosomes 2 and 6. In the latter case the fetus was delivered at term but showed developmental retardation at 6 months.

CONCLUSIONSKY in combination with FISH can facilitate identification of the origins of marker chromosomes as well as complex chromosomal aberrations. With combined information from ultrasonography, SKY and FISH, effective counseling may be offered to the patients.

Chromosome Aberrations ; Chromosome Banding ; methods ; Chromosome Disorders ; genetics ; Female ; Genetic Counseling ; methods ; Genetic Markers ; genetics ; Humans ; Male ; Pregnancy ; Spectral Karyotyping ; methods

OBJECTIVETo define the origin and the precise location of the aberrant fragments on the short arm of the chromosome 8 in a mentally retarded boy, and to understand the mechanism, the characteristic clinical features and the recurrent risk associated with this abnormality.

METHODSHigh-resolution chromosomal banding was performed to analyze the karyotype of the patient and his parents, array comparative genomic hybridization (array-CGH) was employed to investigate the precise location of the aberrant fragments, and quantitative real-time PCR was used to confirm the results.

RESULTSThe rearranged chromosome 8 in the patient was inverted and duplicated for region 8p11.2-p23.1, and deleted for region 8p23.1-pter. In between, a 5.70 Mb single copy region was present, which was delimited by the two olfactory receptor (OR) gene clusters.

CONCLUSIONThis is a case of classic inv dup del(8p) syndrome, which is characterized by severe mental retardation, brain malformation and specific facial dysmorphism, and is induced by non-allelic homologous recombination (NAHR) between the OR genes on 8p23.1. Prenatal diagnosis should be performed to monitor the recurrent risk of inv dup del(8p), as well as the other three harmful consequences resulted from the same NAHR mechanism. To the best of our knowledge, this is the first case of inverted duplicated 8p syndrome identified in Mainland China.

Abnormalities, Multiple ; genetics ; China ; Chromosome Aberrations ; classification ; Chromosome Banding ; methods ; Chromosome Deletion ; Chromosome Inversion ; Chromosome Mapping ; Chromosomes, Human, Pair 8 ; Cytogenetic Analysis ; methods ; Cytogenetics ; methods ; Gene Duplication ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; methods ; Male ; Multigene Family ; Syndrome

OBJECTIVETo assess the value of eight-probe fluorescence in situ hybridization (FISH) and R-banding karyotype analysis for the diagnosis of acute lymphoblastic leukemia (ALL).

METHODSWith the eight-probe FISH (using probes for MYC, P16, E2A, CHIC2/D10Z1/D17Z1, TEL/AMLl, MLL, BCR/ABL1, and IGH) and R-banding karyotype analysis, 237 cases of ALL were analyzed.

RESULTSCytogenetic changes were detected in 135 (56.96%) of all cases, which have involved MYC, P16, E2A, CHIC2/D10Z1/D17Z1, TEL/AMLl, MLL, BCR/ABL1, and IGH polyploidies. R-banding karyotype analysis has only detected abnormalities in 48 of such cases, in addition with 14 abnormalities missed by the FISH probes, which have given a total positive rate of 26.16%. The detection rate of the two methods has differed significantly(P<0.05).

CONCLUSIONCompared with the R-banding karyotype analysis, the eight-probe FISH is more accurate and efficient. Diagnosis of cytogenetic abnormalities for children with ALL using the combined method can provide a basis for evaluation of prognosis as well as personalized therapy.

Chromosome Aberrations ; Chromosome Banding ; methods ; Genetic Testing ; methods ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; methods ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; diagnosis ; genetics