A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes i. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics.
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MIFTS : Expand all tables. Chromosome 17q24 Deletion Syndrome 56 Srxy10 56 OMIM: 56 Inheritance: autosomal dominant. Miscellaneous: 46,xx carriers are unaffected.
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They generally have small testes and may also have abnormalities such as undescended testes cryptorchidism or the urethra opening on the underside of the penis hypospadias. A small number of affected people have external genitalia that do not look clearly male or clearly female ambiguous genitalia. Affected children are typically raised as males and are likely to have a male gender identity. In about 80 percent of individuals with 46,XX testicular disorder of sex development, the condition results from an abnormal exchange of genetic material between chromosomes translocation. This exchange occurs as a random event during the formation of sperm cells in the affected person's father.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. A rare disorder of sex development DSD characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.