What are the characteristics of Turner syndrome?
Oct 01, 2006 · The Turner syndrome cognitive phenotype is well described at a global level. The cognitive phenotype is characterized by specific deficits in visuospatial and executive skills, visual working memory, and mathematics. Response fluency (long response times) is a remarkably persistent finding across tasks.
What exactly are symptoms of Turner syndrome?
Oct 05, 2000 · Turner syndrome (TS) is a sporadic disorder affecting ~ 1/2500 live female births. It is caused by the absence of all or significant parts of one sex-chromosome. Major developmental consequences include severe short stature, ovarian failure and distinctive cognitive and behavioral traits, with renal and cardiovascular defects affecting a minority.
What are the chances of being born with Turner syndrome?
Global descriptors of the cognitive phenotype of Turner syndrome are well established and are thus commonly referred to. For example, Turner syndrome is a proposed etiology of the nonverbal learning disability - because of reported relative strengths in …
How does Turner syndrome affect a person?
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 …
What is the genotype for Turner's syndrome?
One pair of chromosomes is the sex chromosomes, designated X and Y. Females usually have two X chromosomes; however, patients with Turner syndrome have only a single X chromosome or one normal and one defective X or Y chromosome....Turner Syndrome: Genotype and Phenotype.Last Update Posted:October 6, 2017Last Verified:July 8, 20144 more rows
What is the phenotype of Klinefelter syndrome?
Klinefelter syndrome (KS) (47,XXY) occurs in ∼1 in 650 males, and is associated with a physical phenotype that can include tall stature, hypogonadism, and fertility problems.Mar 14, 2011
What is the phenotype of Down syndrome?
People with Down syndrome often have a characteristic facial appearance that includes a flattened appearance to the face, outside corners of the eyes that point upward (upslanting palpebral fissures ), small ears, a short neck , and a tongue that tends to stick out of the mouth.Sep 8, 2020
Is Turner syndrome XY?
In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, a female with Turner syndrome has only 1 X chromosome. Others may have 2 X chromosomes, but one of them is incomplete.Oct 3, 2019
Which is a phenotype?
A phenotype is an individual's observable traits, such as height, eye color, and blood type. The genetic contribution to the phenotype is called the genotype. Some traits are largely determined by the genotype, while other traits are largely determined by environmental factors.
What is the karyotype of Edwards syndrome?
The karyotype in trisomy 18 is abnormal, with 3 copies of chromosome 18 instead of 2. The karyotype, or collection of chromosomes, in a baby with trisomy 18 (Edwards' syndrome) is abnormal.May 19, 2021
What is the gene location of Down syndrome?
Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in an extra partial or full chromosome 21. This extra genetic material is responsible for the characteristic features and developmental problems of Down syndrome.Mar 8, 2018
What is the physical location of a gene within the genome called?
A locus is the specific physical location of a gene or other DNA sequence on a chromosome, like a genetic street address. The plural of locus is "loci".
What type of chromosomal mutation is Turner syndrome?
Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.Feb 11, 2022
What is the karyotype of Turner's syndrome Class 12?
iii) Turner's syndrome is a condition in which the female is born with only one copy of the X-chromosome. The karyotype will be 44 A + X.
How is Turner syndrome caused?
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.Nov 23, 2021
How was Turner syndrome discovered?
Turner syndrome was first discovered in 1938 by Dr. Henry Turner while studying a group of 7 girls who all had the same unusual developmental and physical features. Though most people today refer to the condition as Turner syndrome or TS, your doctor may call it gonadal dysgenesis.
How many chromosomes are in a Turner syndrome patient?
Females usually have two X chromosomes; however, patients with Turner syndrome have only a single X chromosome or one normal and one defective X or Y chromosome.
What are the health problems that can be caused by Turner syndrome?
This abnormality can cause medical problems such as short stature, premature ovarian failure and heart or kidney defects. Individuals with Turner syndrome have an increased risk of thyroid disorders, high blood pressure, diabetes mellitus, abnormal liver function, hearing loss and osteoporosis. This study will try to identify ...
What is Turner syndrome?
Listen. Turner syndrome is a chromosomal disorder that affects development in females. It results when a female's cells have one normal X chromosome and the other sex chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell, and males have one X and one Y chromosome ).
How many chromosomes does Turner syndrome have?
Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion ). Depending on the specific gene (s) that are missing, features of Turner syndrome may or may not be present. A deletion may occur sporadically (not inherited) or it may be inherited from a parent.
What is the FDA approved indication for Turner syndrome?
FDA-approved indication: For the treatment of short stature associated with Turner syndrome in patients whose epiphyses are not closed. In addition, for the treatment of short stature or growth failure in children with cuases of SHOX (short stature homeobox -containing gene) deficiency whose epiphyses are not closed.
What is MedlinePlus Genetics?
MedlinePlus Genetics contains information on Turner syndrome. This website is maintained by the National Library of Medicine.
Can genetic testing identify Turner syndrome?
Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetics professional.
Is Turner syndrome inherited?
Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases.
What is Turner syndrome?
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]. The physical phenotype associated with TS includes short ...
What are the symptoms of TS?
Psychiatric Disorders. Shyness, anxiety, low self-esteem and depression, frequently linked to self-consciousness over physical appearance and/or infertility, have been described in studies of TS. However, psychiatric functioning remains an area of limited and conflicting information in TS, requiring further study.
What is the hallmark of cognitive ability in TS?
An uneven cognitive profile with verbal skills tending to be significantly higher than nonverbal skills is often considered to be the hallmark of cognitive ability in TS. Females with TS have been shown to demonstrate intact if not superior language development compared to controls.
What is TS treatment?
Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includes strengths in verbal domains with impairments in visual-spatial, executive function and emotion processing.
Why is there a high rate of morbidity among the TS population?
There exists a high rate of morbidity among the TS population, primarily due to congenital and acquired heart conditions such as coarctation of the aorta, biscuspid aortic valves, mitral valve prolapse, hypertension, ischemic heart disease and arteriosclerosis [1, 4, 31–33]. Cognitive Phenotype. Visual-Spatial Skills.
What are the risks of TS?
Females with TS also have significantly higher risks for certain diseases compared to the general population including hypothyroidism, diabetes, heart disease, osteoporosis, congenital malformations (heart, urinary system, face, neck, ears), neurovascular disease and cirrhosis of the liver as well as colon and rectal cancers [1].
What is Turner syndrome?
Turner syndrome is caused by the absence of one complete or partial copy of the X chromosome in some or all the cells. The abnormal cells may have only one X ( monosomy) (45,X) or they may be affected by one of several types of partial monosomy like a deletion of the short p arm of one X chromosome (46, X,del (Xp)) or the presence of an isochromosome with two q arms (46,X,i (Xq)) Turner syndrome has distinct features due to the lack of pseudoautosomal regions, which are typically spared from X-inactivation. In mosaic individuals, cells with X monosomy (45,X) may occur along with cells that are normal (46,XX), cells that have partial monosomies, or cells that have a Y chromosome (46,XY). The presence of mosaicism is estimated to be relatively common in affected individuals (67–90%).
How does Turner syndrome affect women?
Women with Turner syndrome may experience adverse psychosocial outcomes which can be improved through early intervention and the provision of appropriate psychological and psychiatric care. Genetic, hormonal, and medical problems associated with TS are likely to affect psychosexual development of female adolescent patients, and thus influence their psychological functioning, behavior patterns, social interactions, and learning ability. Although TS constitutes a chronic medical condition, with possible physical, social, and psychological complications in a woman's life, hormonal and estrogen replacement therapy, and assisted reproduction, are treatments that can be helpful for TS patients and improve their quality of life. Research shows a possible association between age at diagnosis and increased substance use and depressive symptoms.
What is a recurring otitis media?
Recurrent acute otitis media (AOM) and otitis media with effusion (OME) commonly occur in children with Turner syndrome during the preschool age, which can persist or develop later in childhood . The recurring AOM can also be a predisposition to cholesteatomas. People with the monosomy 45, X karyotype have an increased rate of hearing loss over other TS karyotype variants. Conductive hearing losses are more commonly seen with children than adults and becomes more of a sensorineural pattern once in the adolescence age. There seems to be an apparent linear relation between hearing loss and age in TS. About 75% of people with Turner syndrome have some hearing loss, with the most common presenting as a high frequency sensorineural hearing loss (HFSNHL) across all ages. People with TS tend to have more of a progressive hearing loss with a higher decline rate than those in their corresponding age groups with hearing loss. The increased decline tends to occur in the higher frequency range, with a rate of around 0.8-2.2 dB a year.
What percentage of people with Turner's syndrome have aorta?
Between 5% and 10% of those born with Turner syndrome have coarctation of the aorta, a congenital narrowing of the descending aorta, usually just distal to the origin of the left subclavian artery (the artery that branches off the arch of the aorta to the left arm) and opposite to the ductus arteriosus (termed "juxtaductal"). Estimates of the prevalence of this malformation in patients with Turner syndrome range from 6.9 to 12.5%. A coarctation of the aorta in a female is suggestive of Turner syndrome and suggests the need for further tests, such as a karyotype.
How tall is a woman with Turner's mosaicism?
The average height of a woman with Turner syndrome, in the absence of growth hormone treatment, is 4 ft 7 in (140 cm). Women with Turner's mosaicism can reach normal average height.
What is the rate of cardiovascular malformations in Turner syndrome?
The rate of cardiovascular malformations among patients with Turner syndrome ranges from 17% to 45% . The variations found in the different studies are mainly attributable to variations in noninvasive methods used for screening and the types of lesions that they can characterize. However, it could be simply attributable to the small number of subjects in most studies.
Can Turner syndrome be diagnosed at birth?
Often, it is diagnosed at birth due to heart problems, an unusually wide neck or swelling of the hands and feet. However, it is also common for it to go undiagnosed for several years, often until the girl reaches the age of puberty and fails to develop typically (the changes associated with puberty do not occur). In childhood, a short stature can be indicative of Turner syndrome.