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Klinefelter syndrome is not an inherited condition. The extra X chromosome comes from the mother in approximately 50% of the cases. Maternal age is the only known risk factor. Women at 40 years have a four-times-higher risk of a child with Klinefelter syndrome than women aged 24 years. [14] [34] [35]
This includes patients with Turner Syndrome (45,X or 45,X0) and Klinefelter Syndrome (47,XXY) even though they do not generally present with atypical genitals. XX, Sex reversal: consist of two groups of patients with male phenotypes, the first with translocated Sex-determining region Y protein (SRY) and the second with no SRY gene.
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is a very rare genetic disorder which is characterized by congenital muscular dystrophy, infantile-onset cataract, and hypogonadism. Males usually develop Klinefelter syndrome while females develop agenesis of the ovaries. [2]
Bobby Joe Long, a U.S. serial killer with Klinefelter syndrome. Ricardo López, a Uruguayan-American with Klinefelter syndrome who stalked and attempted to murder Icelandic singer Björk in 1996. Small Luk, intersex activist living in Hong Kong, founder of Beyond the Boundary – Knowing and Concerns Intersex [25]
Turner syndrome is usually not diagnosed until a delayed onset of puberty with Müllerian structures found to be in infantile stage. [4] Physical phenotypic characteristics include short stature, dysmorphic features and lymphedema at birth. [23] Comorbidities include heart defects, vision and hearing problems, diabetes, and low thyroid hormone ...
Turner syndrome and Klinefelter syndrome. It is also one of the signs of CHARGE syndrome. Examples of acquired causes of hypogonadism: [citation needed] Opioid Induced Androgen Deficiency (resulting from the prolonged use of opioid class drugs, e.g. codeine, Dihydrocodeine, morphine, oxycodone, methadone, fentanyl, hydromorphone, etc.)
107999 Ensembl ENSG00000178605 ENSMUSG00000033434 UniProt O43824 Q3U6U5 RefSeq (mRNA) NM_012227 NM_145147 RefSeq (protein) NP_036359 NP_660129 Location (UCSC) Chr X: 0.3 – 0.32 Mb Chr 5: 110.25 – 110.26 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse GTP binding protein 6 also known as GTPBP6 is a protein which in humans is encoded by the pseudoautosomal GTPBP6 gene. Clinical ...
XXXYY syndrome was first recorded in 1963, in a 26-year-old man with a moderate intellectual disability living at the Utah State Training School who was ascertained due to having physical traits of Klinefelter syndrome. By that time, three men with XXYY syndrome had been reported.