No abstract available.
Arm* ; Chromosomes, Human, Pair 14*

Chromosomes, Human, Pair 14 ; Humans ; Ring Chromosomes ; Syndrome

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

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

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

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

Ring chromosome 14 syndrome is a rare cytogenetic disorder characterized by typical facial appearance, developmental delay, and intractable epilepsy. There have been about 50 reported cases in the world and one case in Korea. Epilepsy is the most common and serious neurologic comorbidity of the syndrome and it typically begins at early ages and frequently becomes intractable. We report a girl with ring chromosome 14 syndrome who showed early onset intractable epilepsy with repetitive episodes of clustering seizures. We describe the case and the result of long term follow-up for the epilepsy. The early suspicion of the syndrome and prompt management for seizures are necessary for the favorable prognosis.
Chromosomes, Human, Pair 14 ; Comorbidity ; Cytogenetics ; Epilepsy ; Follow-Up Studies ; Korea ; Prognosis ; Ring Chromosomes ; Seizures

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