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The human Y chromosome: a masculine chromosome

Current Opinion in Genetics & Development, 2006
Once considered to be a genetic wasteland of no scientific interest beyond sex determination, the human Y chromosome has made a significant comeback in the past few decades and is currently implicated in multiple diseases, including spermatogenic failure - absent or very low levels of sperm production.
Michiel J, Noordam, Sjoerd, Repping
openaire   +2 more sources

Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin

Human Genetics, 2003
We here describe the first example of the replacement of an autosome by two ring chromosomes originating from the missing chromosome, presented in a patient with a single chromosome 18 and two additional ring chromosomes. Detailed fluorescence in situ hybridization (FISH) analysis revealed the chromosome 18 origin of both ring chromosomes and ...
K, Miller   +6 more
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Chromosome Conformation Capture of Mitotic Chromosomes

2023
Despite more than a century of intensive study of mitotic chromosomes, their three-dimensional organization remains enigmatic. The last decade established Hi-C as a method of choice for study of spatial genome-wide interactions. Although its utilization has been focused mainly on studying genomic interactions in interphase nuclei, the method can be ...
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Sex Chromosomes and Sex Chromosome Abnormalities

Clinics in Laboratory Medicine, 2011
This article focuses on constitutional sex chromosome abnormalities detected by conventional cytogenetics and fluorescence in situ hybridization. The author discusses the two general classifications of abnormalities: numerical and structural. Also included are descriptions of unique aspects of X and Y chromosomes, technological advances in detection ...
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[Chromosomes and chromosome disorders].

Nordisk medicin, 1990
The risk of bearing a child with chromosomal defects increases once the mother reaches the age of 35; the principal indication for chromosomal examination of the fetus is that the pregnant woman is "older". Chromosomal examination of new-born babies is indicated if it is suspected that dysmorphic features may depend on cytogenetic deviation.
openaire   +1 more source

Ring-Chromosomes, Telocentric Chromosomes, Isochromosomes, and B Chromosomes

1980
This chapter is a continuation of the discussion of unusual chromosome types. As mentioned before, the term “unusual” in this connection is a relative term. We very often have a certain concept of things, and whatever deviates from this concept we call “unusual”. Because ring-chromosomes, telocentric chromosomes, isochromosomes, or B chromosomes differ
openaire   +1 more source

Quantitative evaluation of chromosomal rearrangements in gene-edited human stem cells by CAST-Seq

Cell Stem Cell, 2021
Giandomenico Turchiano   +2 more
exaly  

Lysosomal degradation ensures accurate chromosomal segregation to prevent chromosomal instability

Autophagy, 2021
Eugenia Almacellas   +2 more
exaly  

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