Familial adenomatous polyposis (FAP) is a genetic disease created by an abnormality of chromosome number five resulting in a generalized cellular growth disorder. The growth abnormality created by the genetic defect dictates the development of benign and malignant lesions in different organs of the body. Even the term familial adenomatous polyposis does not fully describe the defect because les...

ALTHOUGH attempts at establishing the human chromosome number dates from early in this century, it was not until 1957 when improvements in techniques became available that human cytogenetics became established as a laboratory discipline. Since 1959, many clinical disorders ranging from abnormalities of sexual, physical and intellectual development, pregnancy wastage, leukaemia and tumours, have...

Abstract Introduction Microdeletions of the Y-chromosome (Yq) and karyotype abnormalities are frequent causes male factor infertility. Current AUA/EUA guidelines recommend obtaining Yq microdeletion analysis, karyotype, genetic counseling in men with non-obstructive azoospermia or severe oligospermia (<5 mil/mL). A recent retrospective cohort study suggests that microdeletions primarily ...

The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Cytogenetic analysis was performed on long-term tissue cultu...

BACKGROUND We have established a mouse model of spontaneous deafness by sib-inbreeding over 10 years. The mouse was designated as kuru(2) and has been previously reported in this Journal. MATERIALS AND METHODS In order to identify the genetic abnormality, the mouse was back-crossed to Mus musculus castaneus (CAST), and myosine 15 or myoXV on chromosome 11 was assumed to be the responsive gene...

An identical reciprocal translocation between the long arms of chromosomes 3 and 21 with breakpoints in bands 3q26 and 21q22, t(3;21)(q26;q22), was found in three male patients with the blast phase of chronic myelogenous leukemia (CML). The abnormality was clonal in all three patients and was always accompanied by either a standard or variant 9;22 translocation resulting in a Philadelphia chrom...

We studied the cellular distribution of an unusual chromosomal abnormality, an interstitial deletion of the long arm of chromosome 13, in the peripheral blood lymphocytes of two patients with acquired idiopathic sideroblastic anemia (AISA). We found no metaphases containing the 13q- abnormality in preparations of phytohemagglutinin (PHA)-stimulated lymphocytes from either patient. In both cases...

MAD2 is localized to kinetochores of unaligned chromosomes, where it inactivates the anaphase-promoting complex/cyclosome, thus contributing to the production of a diffusible anaphase inhibitory signal. Disruption of MAD2 expression leads to defects in the mitotic checkpoint, chromosome missegregation, and tumorigenesis. However, the mechanism by which deregulation and/or abnormality of hsMAD2 ...

Cytogenetic analysis of mixed lymphocyte and epithelial thymoma in a nonmyasthenic female patient revealed deletion of part of the short arm of chromosome 6. To our knowledge, this cytogenetic abnormality in a benign thymoma has not been previously described in the literature, which is reviewed.

A family is reported in which several members have the Cornelia de Lange syndrome and other members show facial dysmorphism and other features reminiscent of this syndrome. The segregation pattern is consistent with the view that the dysmorphic features (variable) are the manifestation of a single gene in heterozygous form. Chromosome abnormality was not found.