Sex reversal due to duplication of the Xp21 dosage-sensitive sex reversal locus results in XY females with gonadal dysgenesis. Pure Xp disomy (without a concurrent loss of genetic material) can occur by translocation or interstitial duplication. The case reported here is the rare form with a t(Xp;Yp). The combination of conventional clinical cytogenetic techniques, microsatellite analysis and h...

Although it is known that parental carriers of structural chromosomal rearrangements are associated with recurrent pregnancy loss, subsequent natural pregnancies remain possible. We examined the reproductive outcome of a familial balanced translocation with t(3;6)(q12;q27). Karyotyping of the proband revealed 46,XY chromosomes with the balanced translocation t(3;6). The first 2 pregnancies resu...

B-cell functions as a key player in the humoral immunity producing immunoglobulin protein in mammalian. To produce wide-ranged and antigen-specific antibody, the B-cell undergoes genetic rearrangement of immunoglobulin genes during its maturation process. The genetic rearrangements in immunoglobulin genes require unstable steps for genome; breakage and re-ligation of the double strand DNA. In t...

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that predominantly affects women of childbearing age and characterized by the damage to multiple target organs. The pathogenesis SLE complex, its etiology mainly involves genetic environmental factors. At present, there still lack effective means cure SLE. In recent years, growing evidence has shown gut microbiota, as an factor,...

Chromosomal translocations are common genetic abnormalities found in both leukemias and solid tumors. While much has been learned about the effects of specific translocations on cell proliferation, much less is known about what causes these chromosome rearrangements. This article describes the development and use of a system that genetically selects for rare translocation events using the yeast...

Translocation carriers have an increased risk of miscarriage or the birth of a child with congenital anomalies. Preimplantation genetic diagnosis (PGD) is performed in translocation carriers to select for balanced embryos and, thus, increase the chance of an ongoing pregnancy. However, a common experience is that reciprocal translocation carriers produce a high percentage of unbalanced embryos,...

background: acute lymphoblastic leukemia (all) is the most common form of childhood cancer leading to cancer-related death in children. most infants with all harbor recurring structural chromosomal rearrangements that are important initiating events in leukemogenesis but are insufficient to explain the biology and heterogeneity of the disease. mixed-lineage leukemia-rearrangement (mll-rearrange...

Note Sarcomas are relatively rare malignant tumours and comprise less than 10% of all cancers. Classical classifications of sarcomas are based on the site of tumour (bone or soft tissue). Soft tissue sarcoma (STS) is the collective term used for malignancies arising in muscles, fat, vessels, the peripheral nervous system and fibrous tissue. Histopathologic examination of such tumours has reveal...

Endoplasmic reticulum (ER) stress is associated with diabetic nephropathy (DN), but its pathophysiological relevance and the mechanisms that compromise adaptive ER signalling in podocytes remain unknown. Here we show that nuclear translocation of the transcription factor spliced X-box binding protein-1 (sXBP1) is selectively impaired in DN, inducing activating transcription factor-6 (ATF6) and ...

BACKGROUND Human translocation carriers may present alterations in meiosis. Understanding the mechanism of meiotic segregation of reciprocal translocations is important for estimation of the risk of either pregnancy loss or birth defects. The objective of this work was to estimate meiotic segregation rates in preimplantation embryos from preimplantation genetic diagnosis (PGD) cycles of female ...