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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.
[9] Meanwhile in PGD, the chromosomal constellation is either 46,XX or 46,XY. Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX. Meanwhile, XY gonadal dysgenesis is known as PGD, 46,XY or Swyer syndrome. Patients with PGD have a normal chromosomal constellation but may have localized genetic alterations.
[14] 46,XY gonadal dysgenesis can remain unsuspected until delayed pubertal development is observed. [14] Approximately 15% of cases of 46,XY gonadal dysgenesis carry de novo mutations in the SRY gene, [22] with an unknown causation for the remaining portion of 46,XY gonadal dysgenesis persons. [21]
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 .
17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder of sexual development condition that is a cause of 46,XY disorder of sex development (46,XY DSD). The impaired testosterone biosynthesis by 17β-hydroxysteroid dehydrogenase III (17β-HSD III), [ 6 ] [ 7 ] presents as atypical genitalia in affected males.
Campomelic dysplasia (CMD) is a genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features. [1] It can be lethal in the neonatal period due to respiratory insufficiency, but the severity of the disease is variable, and a significant proportion of patients survive into adulthood.
For example, 46,XY,der(4)t(4;8)(p16;q22)t(4;9)(q31;q31) would refer to a derivative chromosome 4 which is the result of a translocation between the short arm of chromosome 4 at region 1, band 6 and the long arm of chromosome 8 at region 2, band 2, and a translocation between the long arm of chromosome 4 at region 3, band 1 and the long arm of ...
13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13.Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary.