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Turner Syndrome
Turner Syndrome Also known as Monosomy X, Turner syndrome is the result of a missing X chromosome in a female. Although the rate of miscarriage and stillbirth is very high, those who are liveborn have a generally good prognosis with a normal life span and normal intelligence. Physical characteristics may include webbed neck, shield chest with wide spaced nipples, congenital lymphedema, small stature, gonadal dysgenesis, horseshoe kidney and coarctation of the aorta.
RELATED TERMS--------------------------------------
Syndrome A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.
Chromosome A structural unit within a eukaryotic nucleus that carries genes. A chromosome consists of a long, continuous strand of DNA and associated proteins.
Female The traditional definition of female was "an individual of the sex that bears young" or "that produces ova or eggs". However, things are not so simple today. Female can be defined by physical appearance, by chromosome constitution (see Female chromosome complement), or by gender identification. Female chromosome complement: The large majority of females have a 46, XX chromosome complement (46 chromosomes including two X chromosomes). A minority of females have other chromosome constitutions such as 45,X (45 chromosomes including only one X chromosome) and 47,XXX (47 chromosomes including three X chromosomes).
Miscarriage Spontaneous termination of a pregnancy before the fetus has developed enough to survive outside the uterus.
Stillbirth The death of a baby after 20 weeks' gestation but before birth. Stillbirths are mainly caused by genetic or congenital defects, problems with the umbilical cord or placenta, or a medical condition in the mother.
Prognosis The anticipated outcome of treatment.
Chest The area of the body located between the neck and the abdomen. The chest contains the lungs, the heart and part of the aorta. The walls of the chest are supported by the dorsal vertebrae, the ribs, and the sternum.
Congenital Present at birth.
Lymphedema Swelling of tissue because of the buildup of too much lymph fluid.
Dysgenesis Defective embryonic development.
Kidney One of the paired organs that excrete urine. The kidneys are bean-shaped organs (about 11 cm long, 5 cm wide, and 3 cm thick) lying on either side of the vertebral column, posterior to the peritoneum, about opposite the twelfth thoracic and first three lumbar vertebrae.
Coarctation A narrowing, a stricture, a constriction. Although the best known coarctation is of the aorta, any artery can have a coarctation. The word "coarctation" comes from the Latin "coartare" meaning :to press together." The sides of the vessel at the point of a coarctation appear pressed together.
Aorta The largest artery in the body and the primary blood vessel leading from the heart to the body.
SIMILAR TERMS--------------------------------------
Turner's syndrome A condition marked by a chromosomal anomaly in phenotypic females with the chief pathognomonic symptoms of absence of ovaries (gonadal agenesis or dysgenesis) and short stature. The basic genetic defect is a missing sex chromosome, so that the total count is 45,X. There are several variants of this syndrome For example, the second X may, though present, be partially deleted. In one variant of the so-called mosaics, some cells of the body are 45,X and some 46,XX. Treatment includes giving female sex hormone at the age of puberty to induce adult appearance and menses. Girls with Turner's syndrome are almost invariably sterile. ; a condition marked by a chromosomal anomaly in phenotypic females with the chief pathognomonic symptoms of absence of ovaries (gonadal agenesis or dysgenesis) and short stature. The basic genetic defect is a missing sex chromosome, so that the total count is 45,X. There are several variants of this syndrome. For example, in some cases, the second X may, though present, be partially deleted. In others, the so-called mosaics, some cells of the body are 45,X and some 46,XX. Treatment includes administration of female sex hormone at the age of puberty to induce adult appearance and menstruation. Girls with Turner's syndrome are almost invariably sterile.
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