Turner Phenotype with Normal Chromosomes…

Essential
It is feasible that the major title of the record Noonan Syndrome is not the name you got. Happy examine the words detailing to locate the alternative name(s) as well as problem class(s) covered by this record.

Words

  • NS
  • women pseudo-Turner disorder
  • male Turner disorder
  • Turner phenotype with healthy chromosomes (karyotype)

Problem Subdivisions

  • None

General Discussion
Noonan disorder is an usual hereditary problem that is generally obvious at birth (hereditary). The condition is defined by a vast range of signs and symptoms as well as physical functions that differ considerably in variety and also intensity. Several babies with Noonan disorder likewise have heart (heart) problems, such as blockage of correct blood circulation from the reduced right chamber of the heart to the lungs (lung valvular constriction) as well as hypertrophic cardiomyopathy.

Noonan disorder is an autosomal leading congenital disease dued to irregularities (anomalies) in 4 primary genetics: PTPN11 (50 %), SOS1 (13 %), RAF1 (3-17 %), KRAS (much less compared to 5 %), with a handful of people having an anomaly in NRAS, BRAF or MEK2. Noonan-like problems are discovered in organization with anomalies in SHOC2 as well as CBL.

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