Chromosome instability syndrome information

Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They often lead to an increased...

characterized by chromosomal instability, genomic instability, or both and by cancer predisposition. Cells from a person with Bloom syndrome exhibit a striking...

Chromosomal instability (CIN) is a type of genomic instability in which chromosomes are unstable, such that either whole chromosomes or parts of chromosomes...

a chromosome segment including the centromere. Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and...

XXYY syndrome is a sex chromosome anomaly in which males have 2 extra chromosomes, one X and one Y chromosome. Human cells usually contain two sex chromosomes...

Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21...

Trisomy 8 causes Warkany syndrome 2, a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8. It can appear with or without...

behavior, or ADHD. Fragile X syndrome tends to show more symptoms on affected males since females have another X chromosome which can compensate for the...

in which an individual is predisposed to breakage of chromosomes (chromosome instability syndromes) are frequently associated with increased risk for various...

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in...

PMID 11427142. Institut Biologia Fonamental de Barcelona, "Constitutional chromosomal instability: a case with three primary and sequential cancers" Archived 2010-10-03...

structures are manipulated incorrectly, through processes known as chromosomal instability and translocation, the cell may undergo mitotic catastrophe. Usually...

MECP2 duplication syndrome (M2DS) is a rare disease that is characterized by severe intellectual disability and impaired motor function. It is an X-linked...

chromosome accounts for about half the cases of Turner syndrome. The importance of both X chromosomes during embryonic development is underscored by the observation...

Microsatellite instability (MSI) is the condition of genetic hypermutability (predisposition to mutation) that results from impaired DNA mismatch repair...

sequences, chromosomal rearrangements or aneuploidy. Genome instability does occur in bacteria. In multicellular organisms genome instability is central...

The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females. It is a part of the XY...

deletion syndrome 22q11.2 duplication syndrome 22q13 deletion syndrome 2p15-16.1 microdeletion syndrome 2q37 deletion syndrome 3-M syndrome 3C syndrome 3q29...

syndrome is caused in a minority (5% or less) of cases by a Robertsonian translocation of the chromosome 21 long arm onto the long arm of chromosome 14...

also called marker chromosome 15 syndrome, idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15), is a chromosome abnormality in which...

microsatellite instability (MSI) testing. In the US, professional societies recommend testing every colon cancer for MSI or IHC as screening for Lynch syndrome, but...

Werner syndrome (WS) or Werner's syndrome, also known as "adult progeria", is a rare, autosomal recessive disorder which is characterized by the appearance...

phenotypic features. Seckel syndrome, a genetic disease characterized by low levels of ATR, results in increased instability of chromosomes at fragile sites. FRA1A...

during cell division. It usually is a sign of genotoxic events and chromosomal instability. Micronuclei are commonly seen in cancerous cells and may indicate...

identification of a MORM syndrome locus on chromosome 9q34.3 between the genetic markers D9S158 and D9S905. For individuals with MORM syndrome, symptoms do not...