Chromosome Banding ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 12 ; genetics ; Humans ; Infant ; Isochromosomes ; genetics ; Male ; Meiosis

OBJECTIVETo explore the clinical and laboratory characteristics of two myelodysplastic syndromes (MDS) patients with double isochromosome 20q- anomaly.

METHODSBone marrow cell chromosome preparations were made with both direct method and short-term culture. Karyotype analysis was performed by R-banding technique, and dual-color FISH (fluorescence in situ hybridization) by using a 20q telomeric probe and a sequence-specific probe for 20q12.

RESULTSThe clinical and hematological findings were comparable with diagnosis of MDS. Karyotype analysis showed that both patients had double isochromosome 20q- anomaly: case 1 is 46, XX, der(20)? i(20q-) [6]/46, idem, der (6) i (6p) [1]/47, idem, +der (20)? i (20q-) [3]/47, idem, der(6)i (6p), +der(20)? i (20q-) [20]; case 2 is 45, XY, -7, der (20)? i (20q-) [17]/46, idem, +der(20) ? i(20q-) [3]. Two derivative chromosomes 20 were proved 20q isochromosomes with interstitial deletions by dual-color FISH in one patient.

CONCLUSIONSDouble isochromosome 20q- anomaly is a rare recurrent karyotype abnormality in MDS, and signals a poor prognosis.

Chromosome Banding ; Chromosomes, Human, Pair 20 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Isochromosomes ; Karyotyping ; Male ; Middle Aged ; Myelodysplastic Syndromes ; genetics

OBJECTIVETo diagnose chromosomal abnormalities in amniotic fluid cells by combining karyotyping and single nucleotide polymorphism array (SNP-array) analysis, and to explore the application of SNP-array in routine clinical practice.

METHODSConventional G banding was used to karyotype a fetal amniotic fluid sample and the corresponding peripheral blood samples from the parents, followed by SNP-array analysis of the fetal genomic DNA from the amniotic fluid.

RESULTSThe karyotype of the amniocytes was 47, XX, +mar. The marker chromosome was further identified as psu idic (22) (q11.2) by SNP-array analysis, revealing tetraploidy of a 1.7 Mb fragment in 22q11.1-q11.2 interval that involves the critical region for Cat eye syndrome.

CONCLUSIONA rare chromosomal abnormality was identified by combining conventional G banding and SNP-array. The high resolution SNP-array could provide more detailed information for determining the origin of chromosomal abnormalities.

Adult ; Amniotic Fluid ; cytology ; Aneuploidy ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 22 ; genetics ; Eye Abnormalities ; genetics ; Female ; Humans ; Isochromosomes ; Karyotyping ; Polymorphism, Single Nucleotide ; Pregnancy ; Tetraploidy

OBJECTIVETo analyze the clinical and molecular cytogenetic features of hematologic malignancies with idic(20q-).

METHODSThe clinical data of 10 patients with idic (20q-) were analyzed. Karyotyping analysis was carried out with R banding technique. A CEP20 probe was used to perform single-color fluorescence in situ hybridization (FISH). A subtelomeric probe for 20q and a locus-specific probe for 20q12 were used to perform dual-color FISH. The literatures of hematologic malignancies with idic(20q-) were reviewed.

RESULTSOf the 10 cases, 2 were diagnosed as acute erythroid leukemia, 1 primary myelofibrosis, 3 myelodysplastic syndromes (MDS) and 4 highly suspected (HS-MDS). Karyotype analysis showed that one of the normal chromosome 20 allele was substituted by one or two metacentric isochromosomes smaller than the normal one in all 10 cases. It was confirmed to be der(20)del(20)(q11q13)idic(20)(p11), i.e., idic(20q-) by FISH assay. Partial cells in 2 of the 10 cases had 20q- as the sole karyotypic anomaly.

CONCLUSIONIdic(20q-) results from a pre-existing del(20q) and is strongly associated with MDS and acute erythroid leukemia. Idic(20q-) as a recurrent cytogenetic abnormality is helpful for diagnosing HS-MDS in patients with cytopenia but only slight or absent dysplasia.

Adult ; Aged ; Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 20 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Isochromosomes ; Male ; Middle Aged ; Myelodysplastic Syndromes ; diagnosis ; genetics

No abstract available.
Aged ; Bone Marrow/pathology ; Genome, Human ; Humans ; Isochromosomes/*genetics ; Karyotyping ; Leukemia, Myeloid, Acute/complications/*diagnosis/genetics ; *Loss of Heterozygosity ; Male ; Oligonucleotide Array Sequence Analysis ; Thrombocytosis/*etiology

This study reported a relapsed case of acute promyelocytic leukemia with complex chromosomal aberrations of double ider (17q-) and explored its laboratory and clinical features. Immunophenotypic analysis was performed by multiparameter flow cytometry. Conventional cytogenetics was used for karyotyping analysis. Fluorescence in situ hybridization (FISH) and multiplex fluorescence in situ hybridization (M-FISH) were also used to identify the chromosomal aberrations. The results demonstrated that karyotype was 47, XY, 1p-, 15q+, ider (17q)x2, FISH showed five fusion signals in a same interphase cell, and M-FISH confirmed the abnormalities. Immunophenotypic analysis showed positive expression of CD13 and CD33, while no expression of CD34, HLA-DR, or T, B lymphocyte markers. In conclusion, double ider (17q-) is a rare additional abnormality in APL patients; combination of FISH with M-FISH techniques is a reliable way to identify such complicated chromosomal aberrations.
Adult ; Chromosome Aberrations ; Chromosomes, Human, Pair 15 ; Chromosomes, Human, Pair 17 ; Humans ; In Situ Hybridization, Fluorescence ; Isochromosomes ; Leukemia, Promyelocytic, Acute ; genetics ; Male ; Translocation, Genetic

No abstract available.
Bone Marrow/pathology ; Burkitt Lymphoma/*diagnosis/genetics ; Child ; Chromosomes, Human, Pair 1 ; Female ; Flow Cytometry ; Humans ; Immunoglobulin Heavy Chains/genetics ; Isochromosomes/*genetics ; Karyotype ; Karyotyping ; Proto-Oncogene Proteins c-myc/genetics ; Republic of Korea ; Translocation, Genetic

No abstract available.
*Aneuploidy ; Bone Marrow/pathology ; Chromosomes, Human, Pair 21 ; Down Syndrome/*complications ; Female ; Humans ; Hyperplasia/pathology ; In Situ Hybridization, Fluorescence ; Infant ; Isochromosomes/*genetics ; Karyotype ; Leukemia, Megakaryoblastic, Acute/complications/*diagnosis ; Megakaryocytes/pathology

Acute myeloid leukemia (AML) is a phenotypically heterogeneous disorder. The M4 subtype of AML is frequently associated with the cytogenetic marker inversion 16 and/or the presence of eosinophilia. Blast crisis is the aggressive phase of the triphasic chronic myeloid leukemia (CML), which is a disease with Philadelphia(Ph) chromosome as the major abnormality. In the present study, we report a 76-year-old patient suspected of having AML with eosinophilic differentiation (AML-M4), which in clinical tests resembles CML blast crisis with multiple chromosomal abnormalities. Isochromosome 21 [i(21)(q10)] was the most recurrent feature noted in metaphases with 46 chromosomes. Ring chromosome, tetraploid endoreduplication, recurrent aneuploid clones with loss of X chromosome, monosomy 17, monosomy 7, and structural variation translocation (9;14) were also observed in this patient. Fluorescent in situ hybridization (FISH) confirmed the absence of Ph chromosome. This report shows how cytogenetic analyses revealed atypical structural aberrations in the M4 subtype of AML.
Aged ; Blast Crisis ; genetics ; Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 14 ; genetics ; Chromosomes, Human, Pair 17 ; genetics ; Chromosomes, Human, Pair 21 ; genetics ; Chromosomes, Human, Pair 7 ; genetics ; Chromosomes, Human, Pair 9 ; genetics ; Chromosomes, Human, X ; genetics ; Cytogenetic Analysis ; Endoreduplication ; Humans ; In Situ Hybridization, Fluorescence ; Isochromosomes ; Leukemia, Myelomonocytic, Acute ; genetics ; pathology ; Male ; Philadelphia Chromosome ; Polyploidy ; Ring Chromosomes ; Translocation, Genetic

The association of hematological malignancies with a mediastinal germ cell tumor (GCT) is very rare. We report one case of a young adult male with primary mediastinal GCT who subsequently developed acute megakaryoblastic leukemia involving isochromosome (12p). A 25-yr-old man had been diagnosed with a mediastinal GCT and underwent surgical resection and adjuvant chemotherapy. At 1 week after the last cycle of chemotherapy, his peripheral blood showed leukocytosis with blasts. A bone marrow study confirmed the acute megakaryoblastic leukemia. A cytogenetic study revealed a complex karyotype with i(12p). Although additional chemotherapy was administered, the patient could not attain remission and died of septic shock. This case was definitely distinct from therapy-related secondary leukemia in terms of clinical, morphologic, and cytogenetic features. To our knowledge, this is the first case report of a patient with mediastinal GCT subsequently developing acute megakaryoblastic leukemia involving i(12p) in Korea.
Adult ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Bleomycin/administration & dosage ; Bone Marrow/pathology ; *Chromosomes, Human, Pair 12 ; Cisplatin/administration & dosage ; Etoposide/administration & dosage ; Humans ; Isochromosomes ; Karyotyping ; Leukemia, Megakaryoblastic, Acute/drug therapy/etiology/*genetics ; Male ; Mediastinal Neoplasms/*diagnosis/drug therapy/surgery ; Neoplasms, Germ Cell and Embryonal/*diagnosis/drug therapy/surgery ; Neoplasms, Second Primary/drug therapy/etiology/*genetics ; Republic of Korea ; Shock, Septic/pathology