APL is also characterized by a specific chromosome translocution t (15; 17). In this work, using techniques of molecular biology, we demonstrated that the gene coding for the retinoic acid receptor alpha (RARA), normally located on chromosome 17, was disrupted by the t (15; 17) and fused...
It can be argued that the sex chromosomes are the most important pair of chromosomes given their role in determining gender and, therefore, allowing for reproduction and procreation. Considered together, sex chromosome aneuploidies are the most common chromosome abnormalities seen in liveborn infants, ...
The discussion on sex chromosome and X-linked disorders is combined in one chapter because cytogenetic techniques used in diagnosis are common to both. The relatively few sex chromosome disorders occur commonly (see below) but are mostly not associated with fatality or severe mental retardation. In ...
We then tested pupal size41,42, adult weight42and starvation resistance43. These characteristics display differences between males and females. The molecular and cellular mechanisms driving these dimorphisms are still incompletely understood and the impact of the Y chromosome size have never been tested...
aneuploidy in sperm, leading to X-chromosome monosomy (Turner syndrome) or XXY (Kleinfelter syndrome) in the offspring [14,15]. These observations suggest that although the Y chromosome PARs behave like autosomes, the mechanisms by which they do so is different and also has a distinct genetic...
A patient with Klinefelter's syndrome and a boy with XYY sex chromosomes were both found to have a pericentric inversion of chromosome 9. An unusual featur... M.,J.,W.,... - 《Clinical Genetics》 被引量: 15发表: 1978年 Brain imaging, genetics and emotion This paper reviews the publish...
Initially, to generate whole chromosome FISH probes, chromosomes were typically flow sorted or isolated by chromosome microdissection [14,15]. DNA amplification using degenerate oligonucleotide-primed PCR (DOP-PCR) was a commonly used method to generate FISH probes from the isolated chromosomes [16,17...
Specifically, of the microchromosomal BACs, 29 of the original 36 (81%) worked successfully (chromosomes 10–15 and 17–28; 16 not included due to lack of sequence coverage and chromosomes smaller than 28 do not have sequences assigned to them) in both turtle species (all but chromosome ...
1991 Jun 15;51(12):3075-9. Research Support, U.S. Gov't, P.H.S.; Review LA Loeb - 《Cancer Research》 被引量: 3358发表: 1991年 Catalog of chromosome aberrations in cancer This book presents clinically important information for the evaluation, diagnosis, treatment and prognosis of ...
Rousselot P, Hardas B, Patel A, Guidez F, Gaken J, Castaigne S, Dejean A, de Thé H, Degos L, Farzaneh F, Chomienne C (1994): The PML-RARalpha gene product of the t(15;17) translocation inhibits retinoic acid-induced granulocytic differentiation and mediated transactivation in human...