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Что (кто) такое Turner syndrome - определение
Turner syndrome
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![45,X [[karyotype]], showing an unpaired X at the lower right](https://commons.wikimedia.org/wiki/Special:FilePath/45,X.jpg?width=200 "45,X [[karyotype]], showing an unpaired X at the lower right")
![[[Histopathology]] of ovarian tissue in mosaic (A and B) and full (C) Turner syndrome](https://commons.wikimedia.org/wiki/Special:FilePath/Histological sections of ovarian cortex from patients with TS.png?width=200 "[[Histopathology]] of ovarian tissue in mosaic (A and B) and full (C) Turner syndrome")
![Height comparison for women with full and mosaic Turner's compared to [[trisomy X]] and the general population](https://commons.wikimedia.org/wiki/Special:FilePath/Relationship between chromosome X dosage in 45, X and 47, XXX females for quantitative traits.png?width=200 "Height comparison for women with full and mosaic Turner's compared to [[trisomy X]] and the general population")
CHROMOSOMAL DISORDER IN WHICH A FEMALE IS PARTIALLY OR COMPLETELY MISSING AN X CHROMOSOME
Turner's syndrome; Turner Syndrome; 45,X; XO syndrome; Turner's Syndrome; Gonadal dysgenesis Turner type; Bonnevie-Ullrich syndrome; Turners syndrome; Turners Syndrome; Karyotype 45,X; 45,X karyotype; Turner's; Turner disease; Ullrich-Turner syndrome; Bonnevie-Ulrich-Turner syndrome; Ulrich-Turner Syndrome; Bonnevie-Ullrich-Turner syndrome; Turner syndrome (Gonadal dysgenesis); Bonnevie Ullrich Turner syndrome; Single X syndrome; X syndrome; Bonnevie-Ulrich-Turner Syndrome; Bonnevie-Ulrich-Turner's Syndrome; Monosomy X; Partial anomalous venous drainage; Bonnevie–Ullrich–Turner syndrome; Bonnevie–Ullrich syndrome; Ring-X Turner Syndrome; Ring-X Turner syndrome; 45,X0
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partially or completely missing an X chromosome. Signs and symptoms vary among those affected.
Turner's syndrome
CHROMOSOMAL DISORDER IN WHICH A FEMALE IS PARTIALLY OR COMPLETELY MISSING AN X CHROMOSOME
Turner's syndrome; Turner Syndrome; 45,X; XO syndrome; Turner's Syndrome; Gonadal dysgenesis Turner type; Bonnevie-Ullrich syndrome; Turners syndrome; Turners Syndrome; Karyotype 45,X; 45,X karyotype; Turner's; Turner disease; Ullrich-Turner syndrome; Bonnevie-Ulrich-Turner syndrome; Ulrich-Turner Syndrome; Bonnevie-Ullrich-Turner syndrome; Turner syndrome (Gonadal dysgenesis); Bonnevie Ullrich Turner syndrome; Single X syndrome; X syndrome; Bonnevie-Ulrich-Turner Syndrome; Bonnevie-Ulrich-Turner's Syndrome; Monosomy X; Partial anomalous venous drainage; Bonnevie–Ullrich–Turner syndrome; Bonnevie–Ullrich syndrome; Ring-X Turner Syndrome; Ring-X Turner syndrome; 45,X0
¦ noun Medicine a genetic defect in which affected women have only one X chromosome, causing developmental abnormalities and infertility.
Origin
1940s: named after the American physician Henry Hubert Turner.
Nail–patella syndrome
![Nail–patella syndrome is inherited in an [[autosomal dominant]] pattern.](https://commons.wikimedia.org/wiki/Special:FilePath/Autosomal dominant - en.svg?width=200 "Nail–patella syndrome is inherited in an [[autosomal dominant]] pattern.")
 Elbow1.JPG?width=200 "An elbow of a man with nail–patella syndrome (NPS)")
HUMAN DISEASE
Nail patella syndrome; Nail-Patella syndrome; Nail Patella Syndrome; Fong syndrome; Hereditary osteoonychodysplasia; Fong disease; Nail-patella syndrome; Turner-Kieser syndrome; Iliac horn syndrome; Hereditary onychodysplasia; Turner Kieser syndrome; HOOD syndrome; Posterior iliac horns; Absent patella; Turner–Kieser syndrome; Fong Disease
Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail–patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of certain proteins.
Примеры употребления для Turner syndrome
1. If specific tests for Turner syndrome have not been developed, they could select male embryos only to implant as boys are unaffected by the condition.
2. Natural conception only occurs in between two and five per cent of patients with Turner syndrome and there is a high risk of miscarriage.
3. Flavie has Turner syndrome, a genetic condition that affects one in 2,000 girls and usually means they also suffer from growth problems, heart defects, certain facial and physical abnormalities, ear and urinary infections and a higher risk of diabetes.
4. Professor Tan said it was likely Flavie and her future partner would have the eggs fertilised by IVF and then have tests to ensure the embryos were free of Turner syndrome before they were implanted.
5. Arlene Smyth, executive officer of the Turner Syndrome Support Society in the UK, said: "I think it is a wonderful development...but without dealing with the moral and legal implications it might lead to greater stress." A spokeswoman for the Human Fertilisation and Embryology Authority said the process would be difficult in Britain because eggs are usually only allowed to be stored for a maximum of five years.