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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 dysgenesis; 46, XX/XY
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
46,XX DSD: Genetic Female Sex Chromosomes. Mainly virilized females as a result of congenital adrenal hyperplasia (CAH) and girls with aberrant ovarian development. 46,XY DSD: Genetic Male Sex Chromosomes. Individuals with abnormal testicular differentiation, defects in testosterone biosynthesis, and impaired testosterone action.
The most common X-linked recessive disorders are: [7] Red–green color blindness, also known as daltonism, [8] which affects roughly 7% to 10% of men and 0.49% to 1% of women. Its relative benignity may explain its commonness. Hemophilia A, a blood clotting disorder caused by a mutation of the Factor VIII gene and leading to a deficiency of ...
Sexual anomalies, also known as sexual abnormalities, are a set of clinical conditions due to chromosomal, gonadal and/or genitalia variation.Individuals with congenital (inborn) discrepancy between sex chromosome, gonadal, and their internal and external genitalia are categorised as individuals with a disorder of sex development (DSD). [1]
Karyotype of a human with Trisomy 21 (Down syndrome). Trisomies can occur with any chromosome, but often result in miscarriage rather than live birth.For example, Trisomy 16 is most common in human pregnancies, occurring in more than 1%, but the only surviving embryos are those having some normal cells in addition to the trisomic cells (mosaic trisomy 16). [3]
This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in approximately one in 500 live male births. [4] [14] [37] In mammals with more than one X chromosome, the genes on all but one X chromosome are not expressed; this is known as X inactivation. This happens in XXY males, as well as ...
Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood. [35]