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Distal trisomy 10 is a rare chromosomal disorder that causes several physical defects and intellectual disability. [5] Humans, like all sexually reproducing species, have somatic cells that are in diploid [ 2N] state, meaning that N represent the number of chromosomes, and 2 the number of their copies. In humans, there are 23 chromosomes, but ...
The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of virtually any other chromosome and, depending on the ...
The terms "partial monosomy" and "partial trisomy" are used to describe an imbalance of genetic material caused by loss or gain of part of a chromosome. In particular, these terms would be used in the situation of an unbalanced translocation, where an individual carries a derivative chromosome formed through the breakage and fusion of two ...
Trisomy. A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. [1] A trisomy is a type of aneuploidy (an abnormal number of chromosomes).
Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. [2] This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22. In consequence, individuals with the cat-eye syndrome have three ( trisomic) or four ( tetrasomic) copies of the genetic material ...
Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole ( trisomy 21) or part (such as due to translocations ). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy, genetic background ...
Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5, also called "5p monosomy " or "partial monosomy." Approximately 90% of cases result from a sporadic, or randomly occurring, de novo deletion. The remaining 10–15% are due to unequal segregation of a parental balanced translocation where the 5p monosomy ...
Gene list The following is a partial list of genes on human chromosome 10. For complete list, see the link in the infobox on the right.