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XX male syndrome. XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex 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][5][6]
The 23rd pair of chromosomes are called allosomes. These consist of two X chromosomes in females, and an X chromosome and a Y chromosome in males. Females therefore have 23 homologous chromosome pairs, while males have 22. The X and Y chromosomes have small regions of homology called pseudoautosomal regions.
The common pathway of sexual differentiation, where a productive human female has an XX chromosome pair, and a productive male has an XY pair, is relevant to the development of intersex conditions. During fertilization, the sperm adds either an X (female) or a Y (male) chromosome to the X in the ovum. This determines the genetic sex of the embryo.
The XX/XY sex-determination system is the most familiar, as it is found in humans. The XX/XY system is found in most other mammals, as well as some insects. In this system, females have two of the same kind of sex chromosome (XX), while males have two distinct sex chromosomes (XY).
Sex differences. v. t. e. Disorders of sex development (DSDs), also known as differences in sex development or variations in sex characteristics (VSC), [ 2 ][ 3 ] are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. [ 4 ]
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [ 10 ] These complications commonly include infertility and small, poorly functioning testicles (if present). These symptoms are often noticed only at puberty, although this is one of the most common chromosomal disorders, occurring ...
Sex chromosome anomalies. Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes (also called gonosomes). In humans this may refer to: 45, X, also known as Turner syndrome. 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal ...
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]