نتایج جستجو برای: chromosome anomaly
تعداد نتایج: 157750 فیلتر نتایج به سال:
An interesting report on isolation of the subclavian artery appeared in the recent issue of this journal. The authors reported 3 patients with interruption of the aortic arch between the carotid arteries ('type B'), isolation of the subclavian artery, and deletion of the chromosome 22ql l . Isolation of the subclavian artery is a rare anomaly. Although the authors discussed only briefly the eti...
BACKGROUND Chromosomal abnormalities frequently are associated with impairment or arrest of spermatogenesis in mammals but are compatible with fertility in female carriers of the same anomaly. In the case of trisomy, mice have extra genomic DNA as well as the chromosomal abnormality, usually present as an extra, unpaired chromosome. Thus, impairment of spermatogenesis in trisomic males could be...
A case is described of selective immunoglobulin A deficiency in association with an 18q+ anomaly, apparently the result of a break at 18q23 and a de novo translocation. The presentation is compared with the phenotypic and immunological features in an IgA deficient 18q-- patient. The findings in these two patients suggest that gene(s) concerned with regulation of IgA synthesis are located on the...
An extra G band was found inserted into chromosome 11q23.2 in a boy who had severe developmental delay and anal stenosis. Cytogenetic characterisation of this extra band showed that it was composed of Q band brilliant, C band heterochromatin. It was also present in clinically normal subjects in two other generations and was therefore presumed to be unrelated to the clinical abnormalities in the...
Intrachromosomal amplification of chromosome 21 (iAMP21) defines a distinct subgroup of childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) that has a dismal outcome when treated with standard therapy. For improved diagnosis and risk stratification, the initiating genetic events need to be elucidated. To investigate the genetic basis of BCP-ALL, genomes of 94 iAMP21 patients were ...
The role of c-myc in prostatic carcinogenesis is poorly understood. The pathogenetic relationship between high-grade prostatic intraepithelial neoplasia (PIN), prostatic carcinoma, and metastases is not well-defined. We used fluorescence in situ hybridization (FISH) with a region-specific probe for c-myc (band 8q24) and chromosome enumeration probes for chromosomes 7, 8, 10, 12, and Y to evalua...
Several recurrent chromosome rearrangements affecting the EVI1 locus in chromosome band 3q26 have been described in myeloid leukemia. They lead either to overexpression of this oncogene, or to the formation of EVI1 fusion transcripts.1 We employed two separate split-signal interphase fluorescent in situ hybridization (FISH) assays that facilitate the detection of 3q26 and of 3q21 rearrangements...
Spermatogenesis is an essential stage in human male gamete development, which is regulated by many Y chromosome specific genes. Most of these genes are centred in a specific region located on the long arm of the human Y chromosome known as the azoospermia factor region (AZF). Deletion events are common in Y chromosome because of its peculiar structural organization. Astonishingly, among the sev...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید