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

OBJECTIVETo study the genetic basis of aberrant crypt foci (ACF), which serve as a very early morphological alteration during the development of carcinogenesis by analyzing the loss of heterozygosity (LOH).

METHODSDNA from 35 colorectal carcinomas (CRC) and 34 matched ACF were isolated by microdissection. LOH of microsatellite loci at 18q12, 18q21, 5q12, 5q21, 3p21, 2p16, 17q21, 17q11 and 11p13 was detected by means of ABI-SEQUENCER and GeneScan software was applied for analysis.

RESULTSThe rate of LOH in ACF (41.18%) was less than that in carcinoma (68.57%) (P < 0.05). The profile of LOH rates at loci 18q12, 5q12, 3p21, 17q21, 17q11, 11p13 and 2p16 in ACF was similar to that in carcinoma. The LOH frequencies on 18q12, 18q21, 5q12, 5q21, and 3p21 were higher than that on 17q11 and 11p13. However the rate at 18q21 and 5q21 in ACF was much lower than that in the carcinoma (P < 0.05). The co-existing carcinomas displayed more polypoid growth pattern and located more at the sigmoid colon and rectum. LOH in carcinomas did not correlate with the location, size, type of the carcinoma and Duke's stage.

CONCLUSIONSACF are putative preneoplastic lesions that might represent the earliest morphological lesion with the alteration at molecular genetic level. Our study provides further genetic evidence in the pathogenesis of colorectal carcinomas.

Chromosomes ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 17 ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, Pair 2 ; Chromosomes, Human, Pair 3 ; Chromosomes, Human, Pair 5 ; Colorectal Neoplasms ; genetics ; pathology ; Humans ; Loss of Heterozygosity ; Precancerous Conditions

Adult ; Chromosome Aberrations ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 15 ; Chromosomes, Human, Pair 17 ; Chromosomes, Human, Pair 19 ; Humans ; Leukemia, Promyelocytic, Acute ; genetics ; Male ; Translocation, Genetic

OBJECTIVETo summarize a case of acute myeloid leukemia（AML） with severe infection and a rare translocation of t（10;11）（q22;q23）who got spontaneous remission.

METHODSThe laboratorial examination results and clinical data in this case were summarized in couple with the light of published literatures.

RESULTSLike most of the spontaneous remission cases, severe infection happened to this case of AML patient, but the different point was that a rare translocation of t（10;11）（q22;q23）was disclosed in this patient. There were only 6 cases of this kind of translocation reported by the literatures up to now. This patient got spontaneous remission after the controlled infection without any chemotherapy. The rare translocation of t（10;11）（q22;q23）disappeared after he got remission.

CONCLUSIONSpontaneous remission of acute leukemia was a rare phenomenon, the underlying mechanism was unclear, maybe due to the inflammatory factors triggered by infection, or the activated immune system by the infection, or even the role of gene mutation factors. Accumulating data might shed insight into this rare kind of disease.

Acute Disease ; Chromosomes, Human, Pair 10 ; Chromosomes, Human, Pair 11 ; Humans ; Leukemia, Myeloid, Acute ; Male ; Remission, Spontaneous ; Translocation, Genetic

Child, Preschool ; Chromosomes, Human, Pair 11 ; Female ; Humans ; Kidney Neoplasms ; genetics ; Ring Chromosomes ; Wilms Tumor ; genetics

We report on a de novo centric fission of chromosome 11 in a healthy female referred for chromosome analysis due to recurrent miscarriages. Both fission products were mitotically stable. This centric fission of chromosome 11 appears to have no clinical significance for this patient other than recurrent miscarriages.
Humans ; Female ; *Chromosomes, Human, Pair 11 ; *Chromosome Aberrations ; Adult ; Abortion, Habitual/*genetics

BACKGROUNDHereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders with the shared characteristics of slowly progressive spasticity and weakness of the lower limbs. Thirteen loci for autosomal dominant HSP have been mapped.

METHODSA Chinese family with HSP was found in the Shandong province and Inner Mongolia Autonomous Region of China and genomic DNA of all 19 family members was isolated. After exclusion of known autosomal dominant loci, a genome wide scan and linkage analysis were performed.

RESULTSThe known autosomal dominant loci of SPG3A, SPG4, SPG6, SPG8, SPG9, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31 and SPG33 were excluded by linkage analysis. The results of a genome wide scan demonstrated candidate linkage to a locus on chromosome 11p14.1-p11.2, over an 18.88 cM interval between markers D11S1324 and D11S1933. A maximal, two point LOD score of 2.36 for marker D11S935 at a recombination fraction (theta) of 0 and a multipoint LOD score of 2.36 for markers D11S1776, D11S1751, D11S1392, D11S4203, D11S935, D11S4083, and D11S4148 at theta=0, suggest linkage to this locus.

CONCLUSIONThe HSP neuropathy in this family may represent a novel genetic entity, which will facilitate discovery of this causative gene.

Adult ; Chromosome Mapping ; Chromosomes, Human, Pair 11 ; Female ; Humans ; Lod Score ; Male ; Spastic Paraplegia, Hereditary ; genetics

OBJECTIVETo explore the value of fluorescence in situ hybridization (FISH) and multiplex fluorescence in situ hybridization (M-FISH) techniques in the detection of genetic changes in chronic myeloid leukemia (CML) with variant Philadelphia translocation (vPh).

METHODSCytogenetic preparations from 10 CML patients with vPh confirmed by R banding were assayed with dual color dual fusion FISH technique. If only one fusion signal was detected in interphase cells, metaphase cells were observed to determine if there were derivative chromosome 9[der (9)] deletions. Meanwhile, the same cytogenetic preparations were assayed with M-FISH technique.

RESULTSOf the 10 CML patients with vPh, 5 were detected with der (9) deletions by FISH technique. M-FISH technique revealed that besides the chromosome 22, chromosomes 1, 3, 5, 6, 8, 10, 11 and 17 were also involved in the vPh. M-FISH technique also detected the abnormalities which were not found with conventional cytogenetics (CC), including two never reported abnormalities.

CONCLUSIONThe combination of CC, FISH and M-FISH technique could refine the genetic diagnosis of CML with vPh.

Adult ; Aged ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 10 ; genetics ; Chromosomes, Human, Pair 11 ; genetics ; Chromosomes, Human, Pair 17 ; genetics ; Chromosomes, Human, Pair 22 ; genetics ; Chromosomes, Human, Pair 3 ; genetics ; Chromosomes, Human, Pair 5 ; genetics ; Chromosomes, Human, Pair 6 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; diagnosis ; genetics ; Male ; Middle Aged ; Reproducibility of Results ; Sensitivity and Specificity ; Translocation, Genetic ; genetics ; Young Adult

OBJECTIVETo systematically explore the occurrence of a novel type of chromosome translocation in human sperm samples.

METHODSSpecific translocation junction fragments were quantified using nested and/or multi-nested PCR in sperm DNA derived from 28 oligospermic patients and 32 normal controls.

RESULTSt(11;22) was detected in 49 samples. At least 4 samples were found to have t(1;22) (p21.2;q11.2), t(17;22) (q11;q11) or t(X;22) (q27;q11). The mutation rate seemed to be associated not with age or semen volume, but with sperm concentration (r = -0.389, P < 0.05) and motility (r = -0.397, P < 0.05). Correlation was not found between homology of palindromic sequences and mutation rate.

CONCLUSIONPalindromic sequence mediated chromosome translocation is common in human sperm, and associated with sperm concentration and motility. Measurement of such mutations may provide a molecular-level reference for assessing sperm quality.

AT Rich Sequence ; Adult ; Base Sequence ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 17 ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, X ; Humans ; Male ; Middle Aged ; Mutation ; Oligospermia ; genetics ; Spermatozoa ; metabolism ; Translocation, Genetic

Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5). The baby presented with a mild phenotype, characterized by a triangular face, almond-shaped eyes, low ears, short stature with relatively long legs, and mild psychomotor retardation. We utilized whole genomic array comparative genome hybridization (CGH) with 4,000 selected bacterial artificial chromosomes (BACs) to define the chromosomal breakpoints and to delineate the extent of the partial trisomy in more detail. To our knowledge, this is the first case of nearly pure "partial trisomy 1q41" defined by whole genomic array CGH.
Chromosomes, Human, Pair 1/*genetics ; Chromosomes, Human, Pair 11 ; Comparative Genomic Hybridization ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; Phenotype ; Translocation, Genetic ; *Trisomy