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In humans, the SRY gene is located on short (p) arm of the Y chromosome at position 11.2. Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein (also known as gene-regulatory protein/transcription factor) encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals (placental mammals and marsupials). [5]
The syndrome is diagnosed in an increasing number of children prenatally by amniocentesis and chorionic villus sampling [24] in order to obtain a chromosome karyotype, where the abnormality can be observed. It is estimated that only 15–20% of children with 47,XYY syndrome are ever diagnosed. Of these, approximately 30% are diagnosed prenatally.
46,XX/46,XY is either a chimeric or mosaic genetic condition characterized by the presence of some cells that express a 46,XX karyotype and some cells that express a 46,XY karyotype in a single human being. [1] [2] [3] While some individuals with this condition may be classified as intersex, others may have typical male or female characteristics.
Sex verification in sports (also known as gender verification, or as gender determination or a sex test) occurs because eligibility of athletes to compete is restricted whenever sporting events are limited to a single sex, which is generally the case, as well as when events are limited to mixed-sex teams of defined composition (e.g., most pairs ...
The XY sex-determination systemis a sex-determination systempresent in many mammals, including humans, some insects (Drosophila), some snakes, some fish (guppies), and some plants (Ginkgotree). In this system, the sexof an individual usually is determined by a pair of sex chromosomes. Typically, females have two of the same kind of sex ...
De la Chapelle syndrome [ 1 ] Human karyotype 46 XX. Specialty. Medical genetics. XX male syndrome, also known as de la Chapelle syndrome, is a rare condition in which an individual with a 46,XX karyotype develops a male phenotype. [ 2 ] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [ 3 ][ 4 ...
48,XXXY syndrome [ 1 ] XXXYsyndrome is a genetic condition characterized by a sex chromosome aneuploidy, where individuals have two extra X chromosomes. [ 2 ] People in most cases have two sex chromosomes: an X and a Y or two X chromosomes. The presence of one Y chromosome with a functioning SRY gene causes the expression of genes that ...
The human Y chromosome showing the SRY gene which codes for a protein regulating sexual differentiation. 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]