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Around 40%–50% of cases of Turner syndrome are true "monosomy X" with a 45,X0 karyotype, while the remainder are mosaic for another cell line, most commonly 46,XX, or have other structural abnormalities of the X chromosome.
Aug 8, 2023 · Turner syndrome may be prenatally diagnosed by chorionic-villus sampling or amniocentesis. Turner syndrome should be suspected when a prenatal ultrasound shows fetal hydrops, cystic hygroma, or cardiac defects. The diagnosis requires confirmation after birth with karyotype testing.
Turner syndrome (TS), also known as Congenital ovarian hypoplasia syndrome, occurs when the X chromosome is partially or completely missing in females. Its main clinical manifestations include growth disorders, reproductive system abnormalities, cardiovascular abnormalities, and autoimmune diseases. TS is highly prevalent in China.
Turner syndrome is a chromosomal condition that affects development in people who are assigned female at birth. Females typically have two X chromosomes, but in individuals with Turner syndrome, one copy of the X chromosome is missing or altered.
Oct 10, 2023 · Providers perform a genetic test with karyotype analysis on the fluid or tissue, which can confirm if the fetus has Turner syndrome. Other times, children receive a diagnosis soon after birth or during early childhood because of their symptoms.
Oct 3, 2016 · Exclusion of a Ycell line, the presence of which increases the risk of gonadoblastomas and subsequent gonadal germ cell tumors, is best accomplished by karyotype, fluorescent in situ hybridization, and DNA analysis if necessary.
Jun 18, 2019 · Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes.
Turner syndrome occurs in approximately 1/2500 live female births worldwide (1, 2). However, 99% of 45,X conceptions abort spontaneously. Approximately 45% of affected girls have a 45,X karyotype; approximately 80% have lost the paternal X. Most of the other 55% have mosaicism (eg, 45,X/46,XX or 45,X/47,XXX) (3).
Sep 24, 2013 · Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function.
Feb 11, 2022 · However, doing a karyotype during pregnancy or after delivery is recommended to confirm the diagnosis. If Turner syndrome is suspected before birth (prenatally), your pregnancy and childbirth specialist (obstetrician) may ask if you're interested in additional tests to make a diagnosis before your baby is born.
