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Turner syndrome: Characteristics and complications

Turner syndrome is a disorder that occurs when there is a complete or partial monosomy of the X chromosome


Turner syndrome is a disorder that occurs when there is a complete or partial monosomy of the X chromosome. Turner syndrome is associated with one of the following 3 types of karyotypic abnormalities
·        45,X karyotype ( in which no Barr bodies are seen in the buccal smear)
·        mosaics (45, X cell plus one or more karyotypically normal or abnormal cell types)
·        Structural abnormalities of the X chromosomes which result in partial monosomy ofthe X chromosome. E.g. deletion of one of the arms of the X chromosome.

This karyotypic heterogeneity associated with Turner’s syndrome is responsible for significant variations in phenotype. E.g. 45, XO causes a severe phenotype whereas mosaics may have a normal appearance with only primary amenorrhea.

Turner syndrome is characterized by female hypogonadism and its secondary effects.
·        Replacement of the ovaries by fibrous streaks.
·        Decreased estrogen production & increased pituitary gonadotropins from loss offeedback inhibition.



·        Infantile genitalia and poor breast development and little pubic hair.
·        Short stature (rarely exceeding 150cm in height), webbed neck, shield-like chestwith widely spaced nipples, and wide carrying angles of the arms.
·        Lymphedema of the extremities and neck.
·        Congenital heart disease (especially preductalcoarctation of the aorta and bicuspidaortic valve).
Turner syndrome: Characteristics and complications Turner syndrome: Characteristics and complications Reviewed by gafacom on October 12, 2019 Rating: 5

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