Turner syndrome

Chromosomal abnormality involving a complete or partial absence of the second sex chromosome, occurring in approximately 1 in 2500 live female births.

Characteristic clinical features include short stature and premature ovarian failure in a phenotypic female.

Variable phenotype; obvious stigmata such as neck webbing affect only 20% to 30% of patients.

Haploinsufficiency for X- or Y-encoded pseudoautosomal genes largely responsible for the phenotype.

Intelligence is normal, with verbal skills generally greater than performance or visual-spatial skills.

A chromosomal disorder involving a complete or partial absence of the second sex chromosome in phenotypic females, with characteristic features such as short stature and premature ovarian failure.[1]Ullrich O. Uber typische Kombinationsbilder multipler Abartungen. Z. Kinderheilk. 1930;49:271-276.[2]Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology. 1938;23:566-574.[3]Bondy CA; Turner Syndrome Consensus Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007 Jan;92(1):10-25. http://press.endocrine.org/doi/full/10.1210/jc.2006-1374 http://www.ncbi.nlm.nih.gov/pubmed/17047017?tool=bestpractice.com