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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]
Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length. A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease. Disorder. Chromosome. Mutation.
Preimplantation genetic diagnosis (PGD or PIGD) refers to genetic evaluation of embryos and oocytes prior to implantation. When used to screen for a specific genetic condition, the method also makes it possible to select embryos with intersex conditions for termination. Some national authorities, such as the UK Human Fertilization and ...
e. Gender incongruence is the state of having a gender identity that does not correspond to one's sex assigned at birth. This is experienced by people who identify as transgender or transsexual, and often results in gender dysphoria. [1] The causes of gender incongruence have been studied for decades. Transgender brain studies, [2] especially ...
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause ...
Gender dysphoria: The DSM-5 included a change from using gender identity disorder to gender dysphoria. This revised code now specifically includes intersex people who do not identify with their sex assigned at birth and experience clinically significant distress or impairment, using the language of disorders of sex development .
Sex differences in medicine include sex-specific diseases or conditions which occur only in people of one sex due to underlying biological factors (for example, prostate cancer in males or uterine cancer in females); sex-related diseases, which are diseases that are more common to one sex (for example, breast cancer and systemic lupus erythematosus which occur predominantly in females); [1 ...
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.