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.
Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 12/genetics* ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy

OBJECTIVE: To carry out prenatal diagnosis for a fetus with Pallister-killian syndrome (PKS). METHODS: The fetus was found to have limb malformations at 23rd gestational week. With informed consent from its parents, amniotic fluid sample was taken from the fetus and subjected to chromosomal karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) assay. RESULTS: G-banding analysis suggested the fetus has a mos47,XY,+mar[55]/46,XY[10] karyotype. CMA analysis of the cultured amniocytes with CytoScan 750K microarray revealed a segmental tetrasomy duplication of 12p13.33p11.1. FISH confirmed a 70% mosaicism of tetrasomy 12p in the metaphase amniocytes with 12pter/12qter probes. CONCLUSION Combined use of G-banding karyotyping, CMA and FISH analysis has enabled diagnosis of PKS in the fetus. Although short limb is a common feature of PKS, unequal femur length has not been reported previously, which has expanded the spectrum of PKS-associated limb abnormalities.
Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 12/genetics* ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Mosaicism ; Pregnancy ; Prenatal Diagnosis

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).
Chromosome Banding ; Chromosomes, Human, Pair 12 ; Chromosomes, Human, Pair 22 ; Cytogenetics ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Myeloid ; genetics ; Oncogene Proteins, Fusion ; Translocation, Genetic

OBJECTIVE: To carry out prenatal diagnosis for two cases of Pallister-Killian syndrome (PKS) using combined chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). METHODS: Umbilical cord blood was sampled from the two fetuses and subjected to G-banding chromosomal karyotyping, CMA and FISH assay. RESULTS: Chromosomal karyotyping showed that the two fetuses were mos 47,XX,+i(12)(p10)[3]/46,XX[197] and mos 47,XY,+i(12)(p10)[5]/46,XY[95], respectively. CMA showed that both had carried duplication of 12p. The results of interphase FISH confirmed mosaicism of 12p tetrasomy. Combined with ultrasonographic findings, both fetuses were diagnosed as PKS. CONCLUSION Prenatal ultrasound examination, karyotype analysis of umbilical cord blood, G-banded chromosomal analysis, CMA and FISH may be used in conjunct for the prenatal diagnosis of PKS.
Chromosome Disorders ; diagnosis ; Chromosomes, Human, Pair 12 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Microarray Analysis ; Mosaicism ; Pregnancy ; Prenatal Diagnosis

Alcohol-induced flushing syndrome is one of the alcohol hypersensitivity reactions commonly found among Asian population. This study was designed to find markers that can predict this particular propensity among Korean population and to assess the applicability of this finding to build a prediction model as forensic DNA phenotyping tool to operate in practical forensic cases. Five hundred seventy unrelated Koreans were genotyped using microfluidic technology with 24 possible candidate single nucleotide polymorphism (SNP) markers. Of the 24 candidate SNPs, four markers, rs671, rs2074356, rs4646776, and rs10849915, on chromosome 12 showed statistically significant association with P-values ranging from 1.39×10⁻¹⁴ to 0.004988 among our subjects. All four markers show relatively high specificity values, ranging from 0.804651 to 0.972093, presenting their capabilities as differential SNPs that can distinguish a person with or without alcohol-induced flushing syndrome. Maneuvering these candidate SNPs as well as finding additional potential markers through future studies will help building an appropriate prediction model for Koreans that can be used as supplementary tool for individual identification.
Alcohols ; Aldehyde Dehydrogenase ; Asian Continental Ancestry Group ; Chromosomes, Human, Pair 12 ; DNA ; Flushing ; Humans ; Hypersensitivity ; Microfluidics ; Polymorphism, Single Nucleotide ; Sensitivity and Specificity

OBJECTIVETo explore the clinical and genetic characteristics of a case with Pallister-Killian syndrome (PKS).

METHODSChromosomal 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.

RESULTSG-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.

CONCLUSIONCombined 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.

Adult ; Chromosome Banding ; Chromosome Disorders ; diagnosis ; Chromosomes, Human, Pair 12 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis ; methods

OBJECTIVE: To investigate the clinical and laboratory characteristics of hematopoietic tumor with t(5;12)(q33;p13). To sum up the similarities and differences of these diseases. METHODS: The chromosome samples were prepared by short-term training of bone marrow cells, and the karyotype analysis was carried out by R or G band. Using PDGFRb dual color fracture rearrangement probe and fluorescence in situ hybridization (FISH) technology to detect the rearrangement of the gene, the immune-typing analysis was performed using flow cytometry. For 7 cases with t(5;12)(q33;p13) patients with hematopathy were retrospectively analyzed. RESULTS: Seven patients were diagnosed with different diagnoses, mainly male. Nuclear type analysis 5 cases of t(5;12)(q33;p13) was of primary abnormality and 2 cases of secondary abnormality. Five of the seven patients were treated and two untreated. Among the treatment patients, two cases were fatal, two case was lost and one case was treated with combined chemotherapy with dasatinib targeted therapy. The treatment process was successful and is still in hospital. CONCLUSION With t (5;12) (q33;p13) blood system tumors are rare and have unique clinical and laboratory characteristics. At the same time, the heterogeneity is obvious, the patients with tyrosine kinase inhibitor combined with chemotherapy have good effect and good prognosis, and the prognosis of chemotherapy alone is poor.
Chromosomes, Human, Pair 12 ; genetics ; Chromosomes, Human, Pair 5 ; genetics ; Hematologic Neoplasms ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Retrospective Studies ; Translocation, Genetic

No abstract available.
Bone Marrow/pathology ; Chromosomes, Human, Pair 12 ; Chromosomes, Human, Pair 9 ; Core Binding Factor Alpha 2 Subunit/*genetics ; DNA/metabolism ; Gene Rearrangement ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis/*genetics ; Male ; Middle Aged ; Oncogene Proteins, Fusion/*genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Translocation, Genetic

Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having PKS using array-based comparative genomic hybridization (array CGH) and FISH analyses performed on peripheral lymphocytes. Patients 1 and 2 presented with craniofacial dysmorphic features, hypotonia, and a developmental delay. Array CGH revealed two to three copies of 12p in patient 1 and three copies in patient 2. FISH analysis showed trisomy or tetrasomy 12p. Patient 3, who had clinical features comparable to those of patients 1 and 2, was diagnosed by using FISH analysis alone. Here, we report three patients with mosaic tetrasomy 12p. There have been only reported cases diagnosed by chromosome analysis and FISH analysis on skin fibroblast or amniotic fluid. To our knowledge, patient 1 was the first case diagnosed by using array CGH performed on peripheral lymphocytes in Korea.
Child, Preschool ; Chromosome Disorders/*diagnosis ; Chromosomes, Human, Pair 12 ; Comparative Genomic Hybridization ; Female ; Humans ; In Situ Hybridization ; Infant ; Male ; Tetrasomy

OBJECTIVETo explore the origin of a supernumerary small marker chromosome (sSMC) in a fetus, and to assess the feasibility of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis.

METHODSThe fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH).

RESULTSThe karyotype of the fetus was determined as 47,XX,+mar, which was verified by SNP microarray chip analysis as a 34.6 Mb duplication in 12p13.33p11.1. FISH analysis confirmed that the sSMC has originated from chromosome 12p.

CONCLUSIONThe karyotype of the fetus was determined as 47,XX,+i(12)(p10). Tetrasomy 12p is reported to be a marker for Pallister-Killian syndrome, which may result in multi-system anomalies. SNP-array analysis can simultaneously detect microdeletions and microduplications, which may be used for prenatal diagnosis of suspected cases.

Adult ; Chromosome Aberrations ; Chromosome Banding ; Chromosome Disorders ; diagnostic imaging ; embryology ; genetics ; Chromosomes, Human, Pair 12 ; genetics ; Female ; Fetus ; abnormalities ; diagnostic imaging ; metabolism ; Genome-Wide Association Study ; methods ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Karyotyping ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide ; Pregnancy ; Ultrasonography, Prenatal ; methods