No abstract available.
Chromosomes, Human, Pair 13 ; Vitiligo*

Chromosome Aberrations ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 17 ; Humans ; Multiple Myeloma ; genetics

Chromosomes, Human, Pair 13 ; Female ; Humans ; Infant, Newborn ; Trisomy ; genetics

Chromosome Disorders ; Chromosomes, Human, Pair 13 ; Humans ; Infant ; Male ; Trisomy ; Trisomy 13 Syndrome

A phenotypically normal couple was referred for cytogenetic evaluation due to three consecutive first-trimester spontaneous abortions. Chromosomal analysis from peripheral blood was performed according to standard cytogenetic methods using G-banding technique. The husband's karyotype was normal. The wife's karyotype showed a balanced complex chromosome rearrangement (CCR) involving chromosomes 9,14, and 13. There were three breakpoints: 9p21.2, 14q21, and 13q12.2. The karyotype was designated as 46, XX, t (9;14;13)(p21.2;q21; q12.2). Fluorescence in situ hybridization (FISH) analysis with chromosome-specific libraries of chromosomes 9,14, and 13 was performed to confirm this rare chromosome rearrangement. The result of FISH coincided with that obtained by standard cytogenetic techniques.
Abortion, Habitual/*genetics ; Adult ; Case Report ; *Chromosome Aberrations ; *Chromosomes, Human, Pair 13 ; *Chromosomes, Human, Pair 14 ; *Chromosomes, Human, Pair 9 ; Female ; Human ; In Situ Hybridization, Fluorescence ; Pregnancy

PURPOSE: Hepatocellular carcinoma (HCC) patients are asymptomatic and the tumor remains in an unresectable state until the tumor progresses. Recently much efforts for elucidation of the early hepatocarcinogenesis have been made, and for this purpose it is very crucial to investigate the genetic abnormalities. We evaluated microsatellite alterations of five markers from chromosome 9, 13, 16 and investigated the relationships with the clinicopathological parameters in HCC. METHODS: The microsatellite alteration analysis was performed using polymerase chain reaction with five polymorphic microsatellite markers (D9S171, D9S1747, D13S156, D16S419, D16S3106) in 40 surgically resected HCCs and their respective non-tumorous counterparts. RESULTS: D9S171, D9S1747, D13S156, D16S419, D16S3106 abnormalities were detected in 20.0%, 14.3%, 50.0%, 32.4% and 22.6%, respectively. Loss of heterozygosity (LOH) of D9S171 correlated well with higher tumor histologic grade and LOH of D13S156, D16S419 and D16S3106 correlated well with increased tumor size. Microsatellite instability (MSI) was found in two markers, D13S156, D16S419. CONCLUSION: As a result, we concluded that alterations in microsatellites of various chromosomes may contribute to the hepatocarcinogenesis and tumor progression. Especially LOH of chromosome 13 and 16 are considered to correlate with tumor progression.
Carcinoma, Hepatocellular* ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 9 ; Humans ; Loss of Heterozygosity ; Microsatellite Instability ; Microsatellite Repeats* ; Polymerase Chain Reaction

OBJECTIVETo study the technique of dual-color fluorescence in situ hybridization(D-FISH) and its application value in sperm chromosomes of Robertsonian translocation carriers.

METHODSThe technique of dual-color fluorescence in situ hybridization was used. Biotin labelled 13q14.3 specific probe and Digoxigenin labeled 14q11.1 specific probe were used for in situ hybridization of sperm specimens in 2 Robertsonian translocation carriers. Hybridization signals for chromosomes 13 and 14 in the sperm interphase nucleus were counted.

RESULTSUnder the microscope, Biotin labeled 13q 14.3 specific probe showed 1 green hybridization signal and Digoxigenin labeled 14q 11.1 specific probe showed 1 red hybridization signal. Interphase nucleus counter-stained with DAPI showed blue. From the total of 3,000 sperm interphase nuclei, the positive rate for 1 green hybridization signal and 1 red hybridization signal was 13q/14q(39.33%), for 1 green and 2 red was 13q/14q, 14q(11.57%), for 1 green was 13q/-(9.27%), for 2 green and 1 red was 13q,13q/14q(12.87%), for 1 red was -/14q(9.87%) and for 2 green and 2 red was 13q,13q/14q, 14q(12.26%).

CONCLUSIONSD-FISH of the human sperm interphase nucleus can be applied to the determination of sperm chromosomes of Robertsonian translocation carriers and the analysis of the laws of chromosomal segregation in the meiosis. The technique can be widely used in such aspects of human reproduction as insemination under the microscope and preimplantation embryos genetic diagnosis.

Adult ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 14 ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Spermatozoa ; ultrastructure ; Translocation, Genetic

Adult ; Azoospermia ; genetics ; Chromosomes, Human, Pair 13 ; genetics ; Chromosomes, Human, Pair 14 ; genetics ; Humans ; Hypogonadism ; genetics ; Male ; Translocation, Genetic

OBJECTIVE: To detect of chromosomal abnormalities in multiple myeloma (MM) patients with fluorescence in situ hybridization (FISH). METHODS: FISH was performed in 20 MM patients using 5 specific DNA probes. The difference in chromosomal abnormalities was compared by FISH and other routine cytogenetic tests. RESULTS: Eighteen of the 20 patients showed chromosomal abnormalities (90%). The positive rates of t(14q32), del(13q14), dup(1q21), and p53 gene were 65% (13 in 20), 55% (11 in 20), 25% (5 in 20), and 15%(3 in 20), respectively. The abnormal rate of the conventional chromosome examination was 15% only. CONCLUSION FISH is more sensitive than traditional chromosomal tests and can be used as an index in prognostic evaluation for MM. Del(13q14) and t(14q32) are the most common chromosomal abnormalities in MM patients.
Chromosome Aberrations ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 14 ; Humans ; In Situ Hybridization, Fluorescence ; Multiple Myeloma ; genetics ; Prognosis

OBJECTIVETo evaluate the feasibility of using fluorescence in situ hybridization(FISH) for the detection of a few common chromosome aneuploidies on interphase nuclei of uncultured amniotic fluid cells.

METHODSAmniotic fluid samples were taken from 55 women at 16-32 weeks of pregnancy; interphase FISH was performed for diagnosing Down syndrome and aneuploidies of other four chromosomes 13, 18, X and Y. Then the karyotypes from standard cytogenetic analysis after percutaneous umbilical blood sampling(PUBS) were compared to the FISH results.

RESULTSEach of the 55 uncultured amniotic fluid samples tested with FISH was enumerated 200 nuclei. Fifty-three samples were normal. Two samples were found to have trisomy 21(one is a case of standard trisomy 21 with three signals in all 200 nuclei, the other is a mosaic trisomy 21).

CONCLUSIONInterphase FISH analysis of uncultured amniotic fluid cells is a rapid, accurate and very sensitive method. It could be used in the prenatal cytogenetic laboratory.

Adult ; Amniocentesis ; Amniotic Fluid ; cytology ; Aneuploidy ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, Pair 21 ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Down Syndrome ; diagnosis ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Pregnancy ; Prenatal Diagnosis ; methods ; Trisomy