A basic understanding of Turner syndrome: Incidence, complications
Summary. 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.
POV: My Life with Turner Syndrome
April 26, 2016. 18. Caitlin Bawn (COM'16) I sometimes wonder what difference it would have made if my mom knew that I had Turner syndrome (TS) while she was pregnant with me. She is adamant that she never would have aborted me. But today, prenatal genetic screenings and other fetal tests for Turner syndrome are widely used, and I worry that ...
A Review of Recent Developments in Turner Syndrome Research
1. Introduction. Turner syndrome is a spectrum of phenotypic characteristics that result from deficiency of second sex chromosome genes. It is estimated to occur once per roughly 2500 female live births [].The most common manifestations are short stature, which is usually recognizable by age 5, and early loss of ovarian function, which usually prevents puberty and causes infertility.
PDF Turner syndrome: mechanisms and management
Turner syndrome: mechanisms and management. Claus H. Gravholt 1,2*, Mette H. Viuff 1,2 , Sara Brun 1, Kirstine Stochholm1,3. and Niels H. Andersen 4. Abstract | Turner syndrome is a rare condition ...
Turner syndrome: mechanisms and management
Turner syndrome is a rare disorder of women associated with complete or partial loss of one X chromosome. This Review presents an updated discussion of the pathogenetic mechanisms and management ...
Turner Syndrome where are we?
Turner syndrome (TS) results from the loss of one X chromosome in phenotypic females, leading to a range of complications such as short stature, cardiovascular issues, autoimmune disorders, metabolic imbalances, osteoporosis, neurocognitive deficits, hearing loss, abnormalities in endocrine functions, infertility, disruptions in bone metabolism, and neurocognitive deficits. These diverse ...
Current best practice in the management of Turner syndrome
Introduction. Turner syndrome (TS) results from the partial or complete loss of the second X-chromosome in phenotypic females and has a prevalence of 1 in 2000 to 2500 live born female children. 1 The initial description by Henry Turner in 1938 included short stature, sexual infantilism, cubitus valgus and pterygium coli. 2 Girls with TS have significant variability in their clinical ...
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. Turner syndrome may be diagnosed before birth ...
What Is Turner Syndrome?
Turner Syndrome is a random chromosomal disorder affecting only women and over two million of them. It should be detected during a girl's first few years of life, if not at birth, for the best possible outcomes. A variety of signs, including short stature and frequent ear infections, should automatically signal the need for diagnostic testing ...
Turner syndrome
Turner syndrome has characteristic clinical features which include short stature and premature ovarian failure in a phenotypic female. Variable phenotype; obvious stigmata such as neck webbing affect only 20% to 30% of patients. Recent studies show that complex epigenetic factors and gene-gene interactions contribute to this specific phenotype.
Turner syndrome
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. [2] [6] [7] Most people have two sex chromosomes (XX or XY).
Turner Syndrome White Papers
A 6-year follow-up survey Turner Syndrome, 2006. Clinical Care of Adult Turner Syndrome - New Aspects. Deficient Medical Care for Adults with the Turner Syndrome. Health status in women with Turner syndrome: a questionnaire study on health status, education, work participation and aspects of sexual functioning.
Turner syndrome in Diverse Populations
INTRODUCTION. Turner syndrome (TS) is caused by complete or partial deletion of the second X chromosome and affects 1 in 2,000 females in a European population (Stochholm, Juul, Juel, Naeraa, & Gravholt, 2006).In a study from Nigeria, the incidence of live births was found to be similar at 1 in 2745 (Adeyokunnu, 1982).Mosaicism is common in Turner syndrome; in a large study of 902 individuals ...
Long‐Term Outcomes in Patients With Turner Syndrome: A 68‐Year Follow
Turner syndrome (TS) is a sex chromosome disorder characterized by partial or complete loss of an X chromosome. It is the most common sex chromosome abnormality in women, 1 with a prevalence of ≈1 in 2000 live births. 2 The syndrome was initially described separately by Dr Otto Ullrich in 1930, 3 and by Dr Henry Turner in 1938. 4 Since the initial description more than 8 decades ago, studies ...
Turner Syndrome: Diagnosis and Treatment Research Paper
Turner syndrome is an infrequent genetic disorder that affects females, and that is characterized by a short stature, heart defects, and ovarian developmental problems. It was first described in1938 by Henry Turner as a rare chromosomal abnormality. Research has shown that the condition develops from the absolute or partial absence of one of ...
Turner Syndrome
Turner syndrome is a chromosomal disorder affecting females where one X chromosome is missing. The classical features of Turner syndrome are short stature and delayed puberty. Turner syndrome has systemic manifestations in the renal tract (e.g. horseshoe kidney) and the cardiovascular system (e.g. aortic coarctation) The classical stigmata of ...
Turner Syndrome: Discovery and Treatment Research Paper
Conclusion. Turner syndrome is a chromosomal abnormality affecting one girl in every 2500. This medical condition leads to physical and mental abnormalities with increased chances of getting other related problems like heart and kidney failure, obesity, arthritis, etc. there is no treatment for Turner syndrome although there are many treatments used in correcting problems resulting from the ...
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 ...
Turner's syndrome
Before chromosomal analysis became available, the diagnosis of Turner's syndrome was based on the characteristics independently described by Otto Ullrich and Henry Turner, such as short stature, gonadal dysgenesis, typical, visible dysmorphic stigmata, and abnormalities in organs, which present in individuals with a female phenotype. Today, Turner's syndrome or Ullrich-Turner's syndrome may be ...
Turner syndrome Essay
The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females. He published a comprehensive medical description of the syndrome.
Turner Syndrome
Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome, was first described by Henri Turner, an Oklahoma physician in 1938.[1] It is the most common sex chromosomal abnormality found in females. It results when one of the X chromosomes is missing, partially or completely.
Essay On Turner Syndrome
Show More. Turner syndrome, also known as TS and gonadal dysgenesis, is a chromosomal deficiency affecting over two million women that occur when two of the X chromosomes in a female's DNA are either incomplete or missing entirely. It usually becomes apparent when a female is only a few years old, or even shortly following her birth.
IMAGES
VIDEO
COMMENTS
Summary. 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.
April 26, 2016. 18. Caitlin Bawn (COM'16) I sometimes wonder what difference it would have made if my mom knew that I had Turner syndrome (TS) while she was pregnant with me. She is adamant that she never would have aborted me. But today, prenatal genetic screenings and other fetal tests for Turner syndrome are widely used, and I worry that ...
1. Introduction. Turner syndrome is a spectrum of phenotypic characteristics that result from deficiency of second sex chromosome genes. It is estimated to occur once per roughly 2500 female live births [].The most common manifestations are short stature, which is usually recognizable by age 5, and early loss of ovarian function, which usually prevents puberty and causes infertility.
Turner syndrome: mechanisms and management. Claus H. Gravholt 1,2*, Mette H. Viuff 1,2 , Sara Brun 1, Kirstine Stochholm1,3. and Niels H. Andersen 4. Abstract | Turner syndrome is a rare condition ...
Turner syndrome is a rare disorder of women associated with complete or partial loss of one X chromosome. This Review presents an updated discussion of the pathogenetic mechanisms and management ...
Turner syndrome (TS) results from the loss of one X chromosome in phenotypic females, leading to a range of complications such as short stature, cardiovascular issues, autoimmune disorders, metabolic imbalances, osteoporosis, neurocognitive deficits, hearing loss, abnormalities in endocrine functions, infertility, disruptions in bone metabolism, and neurocognitive deficits. These diverse ...
Introduction. Turner syndrome (TS) results from the partial or complete loss of the second X-chromosome in phenotypic females and has a prevalence of 1 in 2000 to 2500 live born female children. 1 The initial description by Henry Turner in 1938 included short stature, sexual infantilism, cubitus valgus and pterygium coli. 2 Girls with TS have significant variability in their clinical ...
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. Turner syndrome may be diagnosed before birth ...
Turner Syndrome is a random chromosomal disorder affecting only women and over two million of them. It should be detected during a girl's first few years of life, if not at birth, for the best possible outcomes. A variety of signs, including short stature and frequent ear infections, should automatically signal the need for diagnostic testing ...
Turner syndrome has characteristic clinical features which include short stature and premature ovarian failure in a phenotypic female. Variable phenotype; obvious stigmata such as neck webbing affect only 20% to 30% of patients. Recent studies show that complex epigenetic factors and gene-gene interactions contribute to this specific phenotype.
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. [2] [6] [7] Most people have two sex chromosomes (XX or XY).
A 6-year follow-up survey Turner Syndrome, 2006. Clinical Care of Adult Turner Syndrome - New Aspects. Deficient Medical Care for Adults with the Turner Syndrome. Health status in women with Turner syndrome: a questionnaire study on health status, education, work participation and aspects of sexual functioning.
INTRODUCTION. Turner syndrome (TS) is caused by complete or partial deletion of the second X chromosome and affects 1 in 2,000 females in a European population (Stochholm, Juul, Juel, Naeraa, & Gravholt, 2006).In a study from Nigeria, the incidence of live births was found to be similar at 1 in 2745 (Adeyokunnu, 1982).Mosaicism is common in Turner syndrome; in a large study of 902 individuals ...
Turner syndrome (TS) is a sex chromosome disorder characterized by partial or complete loss of an X chromosome. It is the most common sex chromosome abnormality in women, 1 with a prevalence of ≈1 in 2000 live births. 2 The syndrome was initially described separately by Dr Otto Ullrich in 1930, 3 and by Dr Henry Turner in 1938. 4 Since the initial description more than 8 decades ago, studies ...
Turner syndrome is an infrequent genetic disorder that affects females, and that is characterized by a short stature, heart defects, and ovarian developmental problems. It was first described in1938 by Henry Turner as a rare chromosomal abnormality. Research has shown that the condition develops from the absolute or partial absence of one of ...
Turner syndrome is a chromosomal disorder affecting females where one X chromosome is missing. The classical features of Turner syndrome are short stature and delayed puberty. Turner syndrome has systemic manifestations in the renal tract (e.g. horseshoe kidney) and the cardiovascular system (e.g. aortic coarctation) The classical stigmata of ...
Conclusion. Turner syndrome is a chromosomal abnormality affecting one girl in every 2500. This medical condition leads to physical and mental abnormalities with increased chances of getting other related problems like heart and kidney failure, obesity, arthritis, etc. there is no treatment for Turner syndrome although there are many treatments used in correcting problems resulting from the ...
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 ...
Before chromosomal analysis became available, the diagnosis of Turner's syndrome was based on the characteristics independently described by Otto Ullrich and Henry Turner, such as short stature, gonadal dysgenesis, typical, visible dysmorphic stigmata, and abnormalities in organs, which present in individuals with a female phenotype. Today, Turner's syndrome or Ullrich-Turner's syndrome may be ...
The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females. He published a comprehensive medical description of the syndrome.
Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome, was first described by Henri Turner, an Oklahoma physician in 1938.[1] It is the most common sex chromosomal abnormality found in females. It results when one of the X chromosomes is missing, partially or completely.
Show More. Turner syndrome, also known as TS and gonadal dysgenesis, is a chromosomal deficiency affecting over two million women that occur when two of the X chromosomes in a female's DNA are either incomplete or missing entirely. It usually becomes apparent when a female is only a few years old, or even shortly following her birth.