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Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. [ 1 ] Most eukaryotic species are diploid, meaning they have two sets of chromosomes ...
Henry Turner. Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a females 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. [ 2 ][ 6 ][ 7 ] Most ...
Monosomy. Schematic karyogram of a human, showing the normal diploid karyotype. It shows annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities including partial monosomies. It shows 22 homologous chromosomes, both the female (XX) and male (XY) versions of the sex chromosome (bottom right), as well as the ...
18p-, also known as monosomy 18p, deletion 18p syndrome, del(18p) syndrome, partial monosomy 18p, or de Grouchy syndrome 1, is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births.
Duchenne muscular dystrophy. P – Point mutation, or any insertion/deletion entirely inside one gene. D – Deletion of a gene or genes. Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length.
[3] [95] The parents of the affected individual are typically genetically normal. [13] Those who have one child with Down syndrome have about a 1% possibility of having a second child with the syndrome, if both parents are found to have normal karyotypes. [90] The extra chromosome content can arise through several different ways.
Karyotype of a human with Trisomy 21 (Down syndrome). Trisomies can occur with any chromosome, but often result in miscarriage rather than live birth.For example, Trisomy 16 is most common in human pregnancies, occurring in more than 1%, but the only surviving embryos are those having some normal cells in addition to the trisomic cells (mosaic trisomy 16). [3]
Chromosome abnormality. A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [1][2] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural ...