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Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome.It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly (incurved pinky fingers), and radioulnar synostosis (fusion of the long bones ...
Sperm also have only one set of 23 chromosomes and are therefore haploid. When an egg and sperm fuse at fertilization, the two sets of chromosomes come together to form a unique diploid individual with 46 chromosomes. [2] The sex chromosome in a human egg is always an X chromosome since a female only has X sex chromosomes.
Males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell, for a total of two X chromosomes and one Y chromosome (47,XXY). It is less common for affected males to have two or three extra X chromosomes (48,XXXY or 49,XXXXY) or extra copies of both the X and Y chromosomes (48,XXYY) in each cell.
Other species (including most Drosophila species) use the presence of two X chromosomes to determine femaleness: one X chromosome gives putative maleness, but the presence of Y chromosome genes is required for normal male development. In the fruit fly individuals with XY are male and individuals with XX are female; however, individuals with XXY ...
One of the X chromosomes is homologous to the human X chromosome, and another is homologous to the bird Z chromosome. [18] Although it is an XY system, the platypus' sex chromosomes share no homologues with eutherian sex chromosomes. [19]
In the absence of a Y chromosome, the fetus will undergo female development. This is because of the presence of the sex-determining region of the Y chromosome, also known as the SRY gene. [5] Thus, male mammals typically have an X and a Y chromosome (XY), while female mammals typically have two X chromosomes (XX).
Turner syndrome (TS), commonly known as 45,X, or 45,XO, [note 1] is a chromosomal disorder in which 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.
Females normally have two X chromosomes while males typically have an X and a Y chromosome. The X chromosome is more active and encodes more information than the Y chromosome, which has been shown to affect behavior. [14] Genetic researchers theorize that the X chromosome may contain a gene influencing social behaviours. [15] [better source needed]