Wolf-Hirschhorn syndrome is a genetic condition that affects many systems of the human body. It caused by deletion band 4p16.3 and this may be sub microscopic. Individuals affected have special phenotype: wide bridge nose, widely spaced eyes, micrognathia, microcephaly, growth retardation, cryptorchidism, heart defects, hearing loss severe intellectual disability. A familial translocation seen ...

We have constructed two plasmids that can be used for cloning as templates for PCR- -based gene disruption, mutagenesis and the construction of DNA chromosome translocation cassettes. To our knowledge, these plasmids are the first vectors that confer resistance to ampicillin, kanamycin and hygromycin B in bacteria, and to geneticin (G418) and hygromycin B in Saccharomyces cerevisiae simultaneou...

background: acute lymphoblastic leukemia (all) is the most common subtype of childhood cancer. chromosomal ab­normality, specially the replacement of chromosomal material is one of the main reasons in generating leukemia, wherein the kind of translocation play a key role in managing the remedy. the goal of the present study was to develop a reliable, rapid, and cost effective method to detect t...

Background: The low incidence of sarcomas in the general population makes heritable contribution to disease risk difficult to discern beyond highly penetrant Mendelian syndromes. Methods: The Utah Cancer Registry (UCR) and Utah Population Database were interrogated for sarcoma diagnostic codes grouped by genetic type, either complex genotype/karyotype sarcoma or balanced translocation-associate...

The t(1; 11) translocation appears to be the causal genetic lesion with 70% penetrance for schizophrenia, major depression and other psychiatric disorders in a Scottish family. Molecular studies identified the disruption of the disrupted-in-schizophrenia 1 (DISC1) gene by chromosome translocation at chromosome 1q42. Our previous studies, however, revealed that the translocation also disrupted a...

OBJECTIVE To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. MATERIALS AND METHODS Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic analyses were performed using G-banding. A search of PubMed was performed to determine whether the identi...

Premature ovarian failure (POF) is a condition in which the ovarian functions of hormone production and oocyte development become impaired before the typical age for menopause. POF and early menopause are present in a broad spectrum of gonad dysgenesis, from a complete cessation of ovarian function to an intermittent follicle maturation failure. Actually POF has been identified as a genetic ent...

Manuscript electronical Premise of research. Genetic variation for ecologically important traits is necessary for populations to adapt to environmental change. Many authors have called for a greater emphasis on directly measuring quantitative genetic variation in rare species, which are expected to have reduced amounts of genetic variation due to genetic drift in small populations. The extent o...