Horizontal gaze palsy with progressive scoliosis (HGPS) is a rare, autosomal recessive disorder characterized by a congenital absence of conjugate horizontal eye movement, with progressive scoliosis developing in childhood or adolescence. The authors identified two unrelated consanguineous families with HGPS. Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-...

Cytogenetic studies were performed on 150 cases of Down's syndrome (DS) in Iran. The standard trisomy 21 was found in 132 (88 % ) and translocation-trisomy 21 (+21) in 18 (12%) patients, i.e., t(21,21) in 1(0.63%) and mosaicism in 17(11.33%) cases. The comparison of the frequencies for mosaicism between different populations such as Denmark, Hungary, Egypt, Iraq, India, Australia and Iran ...

Recent studies have provided evidence that common genetic variations could account for a proportion of leukemia in adult or children. To evaluate the contribution of candidate gene association studies to the understanding of genetic susceptibility to acute lymphoblastic leukemia we conducted a systematic review from published studies. The polymorphisms of genes encoding carcinogen-metabolizi...

Acute lymphoblastic leukemia (ALL) with 11q23 translocations is usually associated with MLL gene rearrangement, but little is known about its leukemogenesis. We analyzed the gene expression profiles of pediatric ALL samples according to their translocations. Using oligonucleotide microarray analysis, we identified distinct expression profiles for 23 ALL samples with 11q23 translocations, includ...

We describe a case of leukemic mantle cell lymphoma (MCL) with complex karyotype and amplification of the CCND1/IGH fusion gene. Testing for the presence of t(11;14), the hallmark of MCL, revealed multiple copies of the fusion signals. We therefore conducted extensive molecular cytogenetic studies to delineate the nature and consequences of such an abnormality. We localized the amplification to...

We previously demonstrated that the 11q23 breakpoint region, des ignated the RCK locus, of the RC-K8 B-lymphoma cell line with t(l 1;14@q23;q32)is centromeric to PBGD, while breakpoints of infan tile leukemia cell lines with t(l1;19Xq23;p13) are detectable by pulsed field gel electrophoresis with the CD3D probe. In the present study, using a probe within 1.0 kilobase ofthe t(11;14) breakpoint, ...

background: different studies show that chromosomal balance translocation in the parents can cause recurrent spontaneous abortions. incidence of chromosomal translocation abnormalities in couples with repeated abortions is from 0% to 31%. objective: the purpose of this research was studying the presence or absence of chromosomal abnormalities and heteromorphism in couples with recurrent abortio...