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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.
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 ...
Monosomy 9p (also known as Alfi's Syndrome, 9p Minus or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, "p", of one copy of chromosome 9 (9p22.2-p23). [ 1 ][ 2 ] This deletion either happens de novo or as a result of a parent having the chromosome abnormality. [ 3 ]
Sex-chromosome dosage compensation. Dosage compensation is the process by which organisms equalize the expression of genes between members of different biological sexes. Across species, different sexes are often characterized by different types and numbers of sex chromosomes. In order to neutralize the large difference in gene dosage produced ...
Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the fetus. CPM was first described by Kalousek and Dill in 1983. [ 1 ] CPM is diagnosed when some trisomic cells are detected on chorionic villus sampling and only normal cells are found on a subsequent ...
Males and females are affected with equal frequency. [7] It is named after British pediatrician Harry Angelman, who first described the syndrome in 1965. [7] [9] An older term, happy puppet syndrome, is generally considered pejorative. [10] Prader–Willi syndrome is a separate condition, caused by a similar loss of the father's chromosome 15. [11]