Recent evidence indicates that the mutation of retinoblastoma susceptibility (RB) gene is also involved in the development of osteosarcoma. We studied 30 cases of osteosarcoma for the structural anomalies of the RB gene by Southern hybridization analysis with cDNA probes of the RB gene. Thirteen cases (43%) showed structural anomalies of the RB gene. They included the total or partial deletion,...

Anonymized publication on static micro data can be achieved with heavy information loss by Generalization. An enhanced utility of Generalization known as Angelization produces the same level of anonymization but with minimal information loss. In reality, there may be a need to publish another version of micro data, after insertions and deletions. Anonymization is applicable to any generalizatio...

Common fragile sites (CFSs) are loci that preferentially exhibit metaphase chromosome gaps and breaks after partial inhibition of DNA synthesis. The fragile site FRA3B, which lies within the FHIT tumor-suppressor gene, is a site of frequent heterozygous and homozygous deletions in many cancer cells and precancerous lesions. The great majority of FHIT and other CFS-associated gene rearrangements...

OBJECTIVE To test the diagnostic efficiency of a gene-specific, five-marker screening strategy for the detection of Y chromosome deletions. DESIGN Prospective case study. SETTING University genetics laboratory and reproductive clinics. PATIENT(S) Six hundred twenty-seven infertile men and 212 fertile men. INTERVENTION(S) Peripheral blood samples were screened for Y chromosome deletions ...

objective angelman syndrome (as) is a genetically determined syndrome that has a unique behavioral phenotype. this syndrome is described as jerky ataxia and an unusual happy facial expression with pathological laughter. severe mental retardation is a unique feature of the syndrome, together with microbrachycephaly and abnormal electroencephalographic findings with or without clinical seizures. ...

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 ...

chromosomal abnormalities are major causes of infertility, miscarriage and birth of handicapped progeny. in human live births, the prevalence of a chromosome aberration is ?0.5% and, of these, 0.1–0.3% correspond to structural chromosome rearrangements such as translocations, inversions, insertions and deletions .our proband is an infant who had died 4 hours after birth due to a variety of abno...

Karyological characteristics of bighead goby (Neogobius kessleri) in the Caspian Sea were studied by examining 30 metaphase chromosome spreads from the kidney tissue of 10 specimens. The chromosome number of this species was found 2n=46 and the arm number as NF=46. The prepared karyotype of this species consisted of 23 pairs acro-telocentric (a-t) chromosomes. The chromosomal formula can be sta...

BACKGROUND To compare the frequency of Y-chromosome microdeletions in Japanese and African azoospermic and oligozoospermic men and describe embryo characteristics and reproductive outcome following in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI). METHODS Our study was performed prospectively at two centers, a private IVF clinic and a university hospital. Japanese and...