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Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. [1]
n/a Ensembl ENSG00000185960 n/a UniProt O15266 n/a RefSeq (mRNA) n/a n/a RefSeq (protein) NP_000442 NP_006874 n/a Location (UCSC) n/a n/a PubMed search n/a Wikidata View/Edit Human The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present ...
X-linked intellectual disability and macroorchidism (fragile X syndrome) X: X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) X: Xp11.2 duplication syndrome Xp11.2: D [34] 1:1,000,000 X-linked severe combined immunodeficiency (X-SCID) X: X-linked sideroblastic anemia (XLSA) ALAS2 (X) 47,XXX (triple X syndrome) X C 1: ...
Noonan syndrome; Other names: Male Turner syndrome, Noonan–Ehmke syndrome, Turner-like syndrome, Ullrich–Noonan syndrome [1] A 12-year-old girl with Noonan syndrome, displaying typical webbed neck and double structural curve with rib deformity. Specialty: Medical genetics, pediatrics: Symptoms
Around 5% of females with Turner syndrome, defined by a karyotype with a single copy of the X chromosome, have a 47,XXX cell line. [14] Mosaic karyotypes with both 45,X and 47,XXX cells are considered Turner syndrome rather than trisomy X, but the presence of 47,XXX cells influences the disorder, [ 28 ] with milder effects than non-mosaic ...
The 10 Most Infamous Family Inheritance Feuds. Douglas McIntyre. Updated July 14, 2016 at 6:17 PM.
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics , cytogenetics , molecular genetics , biochemical genetics , genomics , population genetics , developmental genetics , clinical genetics , and genetic counseling .