Turner Syndrome
Turner Syndrome
Turner syndrome affects 3% of all females prior to birth, with only around 1% of these ‘in utero’ cases surviving to term; it is not inherited from either parent, but purely a ‘chance’ mutation. Despite this, it has become the most common genetically determined abnormality amongst females, and can have detrimental effects on systemic wellbeing throughout life.
Turner Syndrome is a sex-linked genetic disorder which only affects females, and can present symptoms in several organ systems including the reproductive, cardiovascular and musculoskeletal systems, particularly in adult life (Elsheikh et al. 2002). The disorder is not inheritable maternally or paternally, but is a result of prenatal abnormalities in the chromosomes of an affected individual; it is characterised as a complete or partial loss of an X chromosome (called a monosomy) from one or more types of cell (Donaldson et al. 2006). The typical phenotype (physical characteristics) of a female with Turner syndrome includes shorter than average stature, webbed neck, undeveloped ovaries and lack of pubertal change when growing up, ultimately resulting in infertility (Tesch & Rosenfeld 1995). Turner syndrome is often referred to as ’45, X’ or ’45, XO’ …show more content…
1996); if the X chromosome is missing in all of the woman’s cells, her genetic karyotype is definitively 45 X, and this occurs in around 50% of all postnatal sufferers (Sybert & McCauley 2004). However if her X chromosome is missing in some types of cell while other cell types contain a full set (46, XX), this is known as chromosomal mosaicism. Individuals with mosaic Turner syndrome usually have a less abnormal phenotype, and are suffer less severe symptoms including carviovascular, gastrointestinal and gonanal dysfunctions later in life (Doǧer et al.
Turner syndrome affects 3% of all females prior to birth, with only around 1% of these ‘in utero’ cases surviving to term; it is not inherited from either parent, but purely a ‘chance’ mutation. Despite this, it has become the most common genetically determined abnormality amongst females, and can have detrimental effects on systemic wellbeing throughout life.
Turner Syndrome is a sex-linked genetic disorder which only affects females, and can present symptoms in several organ systems including the reproductive, cardiovascular and musculoskeletal systems, particularly in adult life (Elsheikh et al. 2002). The disorder is not inheritable maternally or paternally, but is a result of prenatal abnormalities in the chromosomes of an affected individual; it is characterised as a complete or partial loss of an X chromosome (called a monosomy) from one or more types of cell (Donaldson et al. 2006). The typical phenotype (physical characteristics) of a female with Turner syndrome includes shorter than average stature, webbed neck, undeveloped ovaries and lack of pubertal change when growing up, ultimately resulting in infertility (Tesch & Rosenfeld 1995). Turner syndrome is often referred to as ’45, X’ or ’45, XO’ …show more content…
1996); if the X chromosome is missing in all of the woman’s cells, her genetic karyotype is definitively 45 X, and this occurs in around 50% of all postnatal sufferers (Sybert & McCauley 2004). However if her X chromosome is missing in some types of cell while other cell types contain a full set (46, XX), this is known as chromosomal mosaicism. Individuals with mosaic Turner syndrome usually have a less abnormal phenotype, and are suffer less severe symptoms including carviovascular, gastrointestinal and gonanal dysfunctions later in life (Doǧer et al.