نتایج جستجو برای: dicentric y chromosome

تعداد نتایج: 603928  

Journal: :Journal of medical genetics 2002
C R Quilter N Nathwani G S Conway R Stanhope D Ralph G Bahadur P Serhal K Taylor J D A Delhanty

The Y chromosome is important for male development as it contains the sex determining gene SRY and many spermatogenesis genes. Structural abnormalities of the Y chromosome include rings, deletions, inversions, and dicentrics. 4 These types of abnormalities are common in infertile males (1.5%), especially those with azoospermia. 6 However, such rearrangements are unstable and an additional 45,X ...

Journal: :Journal of medical genetics 1974
G F Smith S Sachdeva N Janakiraman S N Sinha

Armendares, S., Buentello, L., Salamanca, F., and Cantu-Garza, J. M. (1972). A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome. Journal of Medical Genetics, 9, 96-100. Caspersson, T., Lomakka, G., and Zech, L. (1971). The 24 fluorescence patterns of the human metaphase chromosomes-distinguishing characters and vari...

2002
C R Quilter P Serhal K Taylor J D A Delhanty

The Y chromosome is important for male development as it contains the sex determining gene SRY and many spermatogenesis genes. Structural abnormalities of the Y chromosome include rings, deletions, inversions, and dicentrics. 4 These types of abnormalities are common in infertile males (1.5%), especially those with azoospermia. 6 However, such rearrangements are unstable and an additional 45,X ...

Journal: :Journal of cell science 2003
Douglas A Thrower Jennifer Stemple Elaine Yeh Kerry Bloom

Dicentric chromosomes undergo breakage during mitosis as a result of the attachment of two centromeres on one sister chromatid to opposite spindle poles. Studies utilizing a conditional dicentric chromosome III in Saccharomyces cerevisiae have shown that dicentric chromosome repair occurs primarily by deletion of one centromere via a RAD52-dependent recombination pathway. We report that dicentr...

Journal: :Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion 2012
M A Guadalupe Guijarro de Armas Belén Vega Piñero Isabel Pavón de Paz Carmen Alameda Hernando Susana Monereo Megías

plasia and treated accordingly. A peripheral blood karyotype performed at 19 years showed two line cells, 45,X/46,XY. The Y chromosome was dicentric, that is, it consisted of two segments coming from two chromatids of the same chromosome.9 Since a karyotype does not always identify the Y chromosome or its fragments, molecular studies or FISH using a Y centromeric probe should be performed in an...

Journal: :American journal of human genetics 1987
R Bernstein J Rosendorff M Ramsay M R Pinto D C Page

A 32-year-old woman presented with secondary amenorrhea and infertility. She was of normal height and her breasts were well developed, but she had streak gonads; there were no signs of virilization, and she showed no somatic stigmata of Turner syndrome. Chromosome analysis revealed a dicentric X;Y translocation with Xq and Yp breakpoints. Centromeric banding demonstrated a Y centromere and a "s...

2012
Usha R. Dutta Vijaya Kumar Pidugu Ashwin Dalal

We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescence in situ hybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed t...

Journal: :The Journal of Cell Biology 2003
Karthikeyan Mythreye Kerry S. Bloom

Dicentric chromosomes undergo a breakage-fusion-bridge cycle as a consequence of having two centromeres on the same chromatid attach to opposite spindle poles in mitosis. Suppression of dicentric chromosome breakage reflects loss of kinetochore function at the kinetochore-microtubule or the kinetochore-DNA interface. Using a conditionally functional dicentric chromosome in vivo, we demonstrate ...

2009
Vincent Pennaneach Richard D. Kolodner

BACKGROUND The gross chromosomal rearrangements (GCRs) observed in S. cerevisiae mutants with increased rates of accumulating GCRs include predicted dicentric GCRs such as translocations, chromosome fusions and isoduplications. These GCRs resemble the genome rearrangements found as mutations underlying inherited diseases as well as in the karyotypes of many cancers exhibiting ongoing genome ins...

Journal: :Genetics and molecular research : GMR 2006
R Fernandez E Pasaro

A female patient with a structurally abnormal idic(Y) (p11.32) chromosome was studied using fluorescence in situ hybridization and PCR to define the precise position of the breakpoint. The patient had a complex mosaic karyotype with eight cell lines and at least two morphologically distinct derivatives from the Y chromosome. The rearrangement was a result of a meiosis I exchange between sister ...

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