Failure to begin sexual changes expected during puberty. Sexual development that “stalls” during teenage years. Early end to menstrual cycles not due to pregnancy. For most women with Turner syndrome, inability to conceive a child without fertility treatment.
What are three characteristics of Turner syndrome?
Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature. Girls with Turner syndrome grow more slowly than other children.
What is Turner syndrome known as?
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.
What causes Turner syndrome?
Turner syndrome occurs when part or all of an X chromosome is missing from most or all of the cells in a girl’s body. A girl normally receives one X chromosome from each parent. The error that leads to the missing chromosome appears to happen during the formation of the egg or sperm.
What are other names for Turner syndrome?
Other names for Turner’s syndrome include monosomy X, 45X and Ullrich-Turner syndrome.
What are the characteristics of Williams syndrome?
Newborns with Williams syndrome have characteristic “elfin-like” facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.
Which of the following are symptoms of Turner syndrome?
Signs of Turner syndrome at birth or during infancy may include:
- Wide or weblike neck.
- Low-set ears.
- Broad chest with widely spaced nipples.
- High, narrow roof of the mouth (palate)
- Arms that turn outward at the elbows.
- Fingernails and toenails that are narrow and turned upward.
Is Turner syndrome an aneuploidy?
Sex chromosome aneuploidies, in mosaic and nonmosaic forms, result in recognizable syndromes such as Turner syndrome (45,X and associated karyotypes) and Klinefelter syndrome (47,XXY). Sex chromosome DSD are defined by aneuploidy of the sex chromosomes, X and Y.
Is Turner syndrome caused by Nondisjunction?
Turner syndrome (TS) is a complex phenotype associated with complete or partial monosomy of the X chromosome, usually the result of a sporadic chromosomal nondisjunction. TS is one of the most common sex chromosome abnormalities, affecting approximately 1 in 2,000 live born females [1–3].
Can a boy have Turner syndrome?
Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal dis- order. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported.
Can a Turner syndrome girl get pregnant?
It is caused by a random error that leads to a missing X chromosome in the sperm or egg of a parent. Very few pregnancies in which the fetus has Turner Syndrome result in live births. Most end in early pregnancy loss. Most women with Turner syndrome cannot get pregnant naturally.
What is the karyotype for Turner’s syndrome?
Turner syndrome is associated with a 45,X karyotype, with a single X chromosome. Mosaicism is not uncommon, however, with a separate cell line containing either a normal 46,XX or XY karyotype, or 46 chromosomes including a structurally rearranged X or Y.
How is Turner’s syndrome diagnosed?
A genetic test called a karyotype analysis can confirm a Turner syndrome diagnosis. This test requires a blood draw. It can determine whether one of the X chromosomes is fully or partially missing. A complete heart evaluation is also part of diagnosis.