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46,XX/46,XY is either a chimeric or mosaic genetic condition characterized by the presence of some cells that express a 46,XX karyotype and some cells that express a 46,XY karyotype in a single human being. [1] [2] [3] While some individuals with this condition may be classified as intersex, others may have typical male or female characteristics.
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas, [1] the person has underdeveloped gonads, fibrous tissue termed "streak gonads", and if left untreated, will not experience puberty. The cause is a lack or inactivation of ...
Persons with a complete androgen insensitivity have a typical female external phenotype, despite having a 46,XY karyotype. [16] [17]Individuals with complete androgen insensitivity syndrome (grades 6 and 7 on the Quigley scale) are born with an external female phenotype, without any signs of genital masculinization, despite having a 46,XY karyotype. [18]
Karyotype for trisomy Down syndrome. Notice the three copies of chromosome 21. Trisomy 21 (47,XY,+21) is caused by a meiotic nondisjunction event. [3] A typical gamete (either egg or sperm) has one copy of each chromosome (23 total). When it is combined with a gamete from the other parent during conception, the child has 46 chromosomes.
Mayer–Rokitansky–Küster–Hauser syndrome (46,XX karyotype) Swyer syndrome (46,XY karyotype) XX gonadal dysgenesis (46,XX karyotype) Leydig cell agenesis or hypoplasia, not otherwise specified (46,XY karyotype) Absent (vanishing) testes syndrome; Ovotesticular DSD; Testicular DSD (i.e. 46,XX sex reversal) Teratogenic causes (e.g. estrogens ...
The fundamental autosomal number or autosomal fundamental number, FNa[36]or AN,[37]of a karyotype is the number of visible major chromosomal arms per set of autosomes(non-sex-linked chromosomes). Ploidy. [edit] Ploidyis the number of complete sets of chromosomes in a cell. Polyploidy, where there are more than two sets of homologous chromosomes ...
With the determination of an XY karyotype and normal SRY, the differential diagnosis of 46,XY DSD is made with endocrinological measurements of T/DHT ratios [14] (which indicate 5αR2 activity) and precise anatomical imaging since 5αR2D can be difficult to distinguish from other causes of 46,XY DSD (e.g., partial androgen insensitivity ...
A molar pregnancy, also known as a hydatidiform mole, is an abnormal form of pregnancy in which a non-viable fertilized egg implants in the uterus. It falls under the category of gestational trophoblastic diseases. [ 1 ] During a molar pregnancy, the uterus contains a growing mass characterized by swollen chorionic villi, resembling clusters of ...