Non-Hodgkin's lymphoma (NHL) is a heterogenous disease from various resources and biological characters. Many researches indicated molecular abnormal characteristics in patients with NHL. Currently, NHLs are diagnosed according to the World Health Organisation classification. With the advances in molecular biology and cytogenetics, the cell as a morphological and functional unit has become essential in the diagnosis, therapy and prognosis of lymphoma. The signification of abnormal karyotypes has been more and more focused on, and great progression has been made. Accepting the pitfalls of conventional cytomorphology and immunophenotype, this review emphasizes molecular abnormalities in non -Hodgkin's lymphomas, which are not only a molecular characterization, but also an indicator to predict prognosis and response to treatment.
Chromosome Aberrations ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 14 ; Humans ; Lymphoma, Non-Hodgkin ; genetics

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

This article aimed to report two cases of Burkitt lymphoma/leukemia with concurrent t(8;14) and t(14;18). Morphology, immunophenotype, cytogenetics and molecular biology (MICM) methods were applied to diagnosis. The results showed that the two cases were both acute lymphocytic leukemia L3 type according to FAB criteria. Conventional cytogenetic technique or interphase fluorescence in situ hybridization (FISH) demonstrated that t(8;14) and t(14;18) were detected concurrently in both patients. CD20, CD10, FMC7, CD38 and CD19 were expressed in both patients by immunophenotyping. According to MICM, they were both diagnosed as Burkitt lymphoma/leukemia. The first patient died in one month after chemotherapy, and the second patient survived 19 months after rituximab- combined high-dose chemotherapy and subsequently allogeneic hematopoietic stem cell transplantation (HSCT). In conclusion, t(8;14) and t(14;18) may present simultaneously in Burkitt lymphoma/leukemia and indicate poor prognosis. Rituximab-combined chemotherapy and subsequently HSCT could improve the outcomes of such cases.
Burkitt Lymphoma ; genetics ; Chromosomes, Human, Pair 14 ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Female ; Humans ; Lymphoma ; genetics ; Male ; Middle Aged ; Translocation, Genetic

Child ; Chromosomes, Human, Pair 14 ; Drug Resistant Epilepsy ; drug therapy ; genetics ; Humans ; Male ; Ring Chromosomes

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

We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.
Abnormalities, Multiple/*genetics ; Child ; Child, Preschool ; *Chromosomes, Human, Pair 14 ; *Chromosomes, Human, Pair 4 ; Female ; Humans ; Karyotyping ; Translocation, Genetic ; *Trisomy

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

AIMTo analyze the relationship between autosomal aberrations and testicular dysgenesis or spermatogenic arrest in Chinese patients and to map the corresponding regions on each autosome in regard to the recorded aberrations accompanying these distubances.

METHODSOne hundred and nineteen cases of aberrant karyotypes with testicular dysgenesis, azoospermia or oligozoospermia reported in five Chinese journals and one monograph were analyzed. For each autosome, the type and frequency of chromosomal aberrations were counted and the regions corresponding to the disturbances were mapped out.

RESULTSChromosomes 13, 14, 9, 21 exhibited a high frequency of aberration and bands 14q11 and 13p11 were the two regions showing the highest linkage to testicular dysgenesis or infertility. The frequency of chromosomal aberrations was higher in bands 9p11 and 22q than in others.

CONCLUSIONAutosomes 13, 14, 9 and 21 in the order of importance play a critical role in testicular development and spermatogenesis and other autosomes may also contribute; the following regions, 14q11, 13p11,9p11, and 22q, are of high significance.

Asian Continental Ancestry Group ; Chromosome Aberrations ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 21 ; Chromosomes, Human, Pair 9 ; Gonadal Dysgenesis ; genetics ; Humans ; Infertility, Male ; genetics ; Karyotyping ; Male ; Oligospermia ; genetics ; Testis ; abnormalities

A chromosomal abnormality was found in about 3.6-7.6% of males presenting with azoospermia or oligospermia. Translocations between X chromosome and autosomes are rarely seen genetic disorders that cause male infertility. We described here a 26-year-old infertile male with t(X;14)(p11.4; p12). He showed a normal phenotype without any familial history of congenital abnormalities. The cytogenetic analysis of the proband revealed an X-autosomal translocation, 46,Y,t(X;14)(p11.4;p12), which was inherited from his mother. The testis biopsies indicated the arrest of spermatogenesis. There were no microdeletions of the azoospermia factor a (AZFa), AZFb and AZFc regions in the Y chromosome shown by PCR with 11 sequence-tagged site (STS) markers. According to the literature, male carriers of an X-autosome translocation are invariably sterile, regardless of the position of the break-point in the X chromosome. To our knowledge, this is the first case report of azoospermia with t(X;14)(p11.4;p12) in Korea.
Adult ; *Chromosomes, Human, Pair 14 ; *Chromosomes, Human, X ; Humans ; Infertility, Male/diagnosis/*genetics ; Karyotyping ; Male ; Spermatogenesis ; *Translocation, Genetic

OBJECTIVETo perform genetic analysis of a complex chromosome rearrangement (CCR) 46,XY, t(3;11)(q27; q13), ins(11;3)(q13;p26p13) in an azoospermic man.

METHODSPeripheral blood lymphocytes we re obtained for karyotyping, and metaphases were studied by multicolor fluorescence in situ hybridization procedure, Y chromosomal microdeletions in the azoospermia factor (AZF) region were analyzed with multiplex polymerase chain reaction.

RESULTSThe case was a complex chromosomal translocation between chromosomes 3 and 11 with four breakpoints, and accompanied with a band of chromosome 3 inserting into chromosome 11. No Y-chromosome microdeletions were identified at 6 STS sequences of the AZF loci.

CONCLUSIONCCR can have a significant impact on male fertility. Molecular cytogenetic techniques may contribute to improving and personalizing reproductive counseling.

Adult ; Azoospermia ; genetics ; Chromosome Breakage ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 3 ; Chromosomes, Human, X ; Chromosomes, Human, Y ; DNA ; analysis ; Humans ; Karyotyping ; Male ; Translocation, Genetic