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46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis.
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 ...
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 ...
Androgen insensitivity syndrome(AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptordysfunction. [1] It affects 1 in 20,000 to 64,000 XY (karyotypicallymale) births. The condition results in the partial or complete inability of cellsto respond to androgens.[2]
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 in ...
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]
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 ...
Medical genetics. Diagnostic method. Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo. [ 1 ][ 2 ] One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak ...