Turner's syndrome


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Turner's syndrome

 [ter´nerz]
gonadal dysgenesis marked by short stature, undifferentiated (streak) gonads, and variable abnormalities that may include webbed neck, low posterior hair line, cubitus valgus, and cardiac defects. The genotype is XO (45,X) or X/XX or X/XXX mosaic, and affected individuals have a female phenotype. Information and support regarding this disorder can be obtained from the Turner's Syndrome Society, 14450 T.C. Jester, Suite 260, Houston, TX 77014, telephone 1-800-365-9944.
Typical features of Turner's syndrome. Redrawn from Damjanov, 2000.

Turner's syndrome

A genetic disorder affecting females and caused by the absence of one of the two X (sex) chromosomes (monosomy). This may be the case in all body cells or only in some of them (mosaicism). Turner's syndrome features short stature, webbed skin on each side of the neck, misshapen ears, absent pubic and armpit hair and failure of development of the vagina, womb and breasts with absent menstruation. There are also abnormalities of the eyes and the bones and an area of narrowing of the largest artery in the body (coarctation of the aorta). (Henry Hubert Turner, 1892–1970, American physician).

Turner's syndrome

a human chromosomal abnormality in which the individual has 45 chromosomes, 44 AUTOSOMES and one X-CHROMOSOME.

The main features of the syndrome are (a) a female phenotype but with few or no SECONDARY SEXUAL CHARACTERS, (b) a broad shield-like chest,(c) slight mental retardation. The condition is important in understanding SEX DETERMINATION in humans since the fact that a single X-chromosome produces a female (rather than a male) suggests that normal maleness (with XY) is not due to the possession of a single X but rather to the presence of a Y-chromosome. See also KLINEFELTER'S SYNDROME.

Turner's syndrome

A disorder in women caused by an inherited chromosomal defect. This disorder inhibits sexual development and causes infertility. A symptom is absence of menstruation.
References in periodicals archive ?
Nikolis, "Parental origin of the X chromosome in a patient with a Robertsonian translocation and Turner's syndrome," Journal of Medical Genetics, vol.
In SAH, MV, M, and Turner's syndrome, aortas showed an increase in Mn-SOD activity and Cu-Zn-SOD (P < 0.05) in comparison to C subjects (Figures 2(a) and 2(b)).
Turner's syndrome is caused by an aberration of the X chromosome and affects around 1 in 2,500 women.
The frequency of hypertrophic pyloric stenosis is higher in turner's syndrome.8,9 The first and the most important step in patient workup of suspected hypertrophic pyloric stenosis is through physical examination and ultrasongraphy recommended which has sensitivity and specificity close to 100% and laparotomy is done to correct hypertorphic pyloric stenosis.10
Spontaneous puberty in Turner's syndrome. In Optimizing Health Care for Turner's Patients in the [21.sup.st] Century, Eds., Saenger P, Pasquino AM, Elsevier, Amsterdam, pp: 231-238.
"Then we were told about the Turner's Syndrome which is a chromosome abnormality that only affect girls.
Emma was born with a disorder known as Turner's syndrome (TS), which is a chromosome abnormality affecting only girls.
It is possible that many women with Turner's syndrome are actually XY, with an isodicentric Y that was discarded from their presumptive gonads early in development.
It is approved for the treatment of growth hormone deficiency in children and growth disturbance associated with Turner's syndrome or chronic renal insufficiency.
Audiological features of Turner's syndrome in adults.