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Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.
1 in 74,000 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 .
Chromosome 15 is one of the 23 pairs of chromosomes in humans.People normally have two copies of this chromosome. Chromosome 15 spans about 99.7 million base pairs (the building material of DNA) and represents between 3% and 3.5% of the total DNA in cells.
In general, deletions of 18q fall into one of two categories: interstitial deletions, which typically have breakpoints between 18q11.2 (18.9 Mb) to 18q21.1 (43.8 Mb), and terminal deletions, which typically have a breakpoint distal to 18q21.1 (45.4 Mb) and extend to the end of the chromosome.
Trisomy 21, an extra copy of the 21st chromosome, is responsible for causing Down syndrome, and the mouse chromosome 16 closely resembles human chromosome 21. In 1979, trisomy of the mouse chromosome 16 (Ts16) initially showed potential to be a model organism for human Down syndrome.
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [10] These complications commonly include infertility and small, poorly functioning testicles (if present).
[1] [2] A majority of i(Xq) are created by U-type strand exchange. A breakage and reunion in the pericentric region of the p arm results in a dicentric isochromosome. [4] Some of the p arm can be found in this formation of i(Xq), but a majority of the genetic material on the p arm is lost so it is considered absent.
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.