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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 ...
Sexual differentiation in humans is the process of development of sex differences in humans. It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. [1] Sexual differentiation includes development of different genitalia and the internal genital tracts and body hair ...
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.
Medical genetics. 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 ...
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 ...
A Barr body (named after discoverer Murray Barr) [1] or X-chromatin is an inactive X chromosome. In species with XY sex-determination (including humans), females typically have two X chromosomes, [2] and one is rendered inactive in a process called lyonization. Errors in chromosome separation can also result in male and female individuals with ...
The fundamental autosomal number or autosomal fundamental number, FNa[36]or AN,[37]of a karyotype is the number of visible major chromosomal arms per set of autosomes(non-sex-linked chromosomes). Ploidy. [edit] Ploidyis the number of complete sets of chromosomes in a cell. Polyploidy, where there are more than two sets of homologous chromosomes ...