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Mosaic Down syndrome is when some of the cells in the body do not have trisomy 21 and some cells have trisomy 21, an arrangement called a mosaic (46,XX/47,XX,+21). [6] [7] This can occur in one of two ways: A nondisjunction event during an early cell division leads to a fraction of the cells with trisomy 21;
Complete trisomy 8 causes severe abnormalities on the developing fetus and can be a cause of miscarriage. [2] [3] Complete trisomy 8 is usually a gestational lethal condition, whereas trisomy 8 mosaicism is less severe and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. [4]
Cat eye syndrome (Schmid Fraccaro syndrome) [6] is a condition caused by a partial trisomy or tetrasomy in chromosome 22. A small extra chromosome is found, made up of the top half of chromosome 22 and a portion of the q arm at the q11.2 break.
Second, medical roots generally go together according to language, i.e., Greek prefixes occur with Greek suffixes and Latin prefixes with Latin suffixes. Although international scientific vocabulary is not stringent about segregating combining forms of different languages, it is advisable when coining new words not to mix different lingual roots.
A karyotype of an individual with trisomy 21, showing three copies of chromosome 21.. An abnormal number of chromosomes is known as aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.).
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.
Since 1991, out of the 47 possible disomies, 29 have been identified among individuals ascertained for medical reasons. This includes chromosomes 2, 5–11, 13–16, 21 and 22. [ citation needed ] [ needs update ]
Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children (sound sample ). [2]