Mosaicism turner syndrome. Medical search. Frequent questions

The phenotype of Turner syndrome is affected by mosaicism, where cell lines with a single sex chromosome are combined with those with multiple. (wikipedia.org)
One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. (figshare.com)
Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. (figshare.com)
Among girls with mosaicism, phenotype may vary from that of typical Turner syndrome to normal. (msdmanuals.com)
Turner syndrome (TS) is associated with a neurocognitive phenotype that includes selective nonverbal deficits, e.g., impaired visual-spatial abilities. (biomedcentral.com)
The neurocognitive phenotype was measured as a quantitative trait, the Turner Syndrome Cognitive Summary (TSCS) score, derived from discriminant function analysis. (biomedcentral.com)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
This mosaicism, due to the presence of the ring Y chromosome and depending upon on the presence or absence of the SRY gene can result in a wide spectrum of manifestations ranging from females with a Turner syndrome-like phenotype to phenotypic males. (juniperpublishers.com)
Here, we present the molecular cytogenetics of 45,X/46,X(r)Y mosaicism in a 12-year-old boy with normal male phenotype, chordee, short stature andpubertal delay. (juniperpublishers.com)
Tetrasomy 9p mosaicism associated with a normal phenotype in two cases. (upd-tl.com)
A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX. (upd-tl.com)
Prader-Willi Syndrome Genetics  Genotype-Phenotype correlations o Type I deletions: more compulsions, poorer adaptive skills, lower IQ and lower academic achievement  75% microdeletion paternal chromosome 15q11.2-q13. (kipdf.com)

In girls with Turner syndrome, one of the X chromosomes is missing, partially missing, or modified. (medicinenet.com)
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder caused by a sex chromosome monosomy, compared to the two sex chromosomes (XX or XY) in most people, it only affects women. (wikipedia.org)
While most people have 46 chromosomes, people with Turner syndrome usually have 45 in some or all cells. (wikipedia.org)
Short stature in Turner syndrome and its counterpoint, tall stature in sex chromosome polysomy conditions such as Klinefelter syndrome, XYY syndrome, and trisomy X, is caused by the short-stature homeobox gene on the X and Y chromosomes. (wikipedia.org)
Females typically have two X chromosomes, but in individuals with Turner syndrome, one copy of the X chromosome is missing or altered. (medlineplus.gov)
Turner syndrome can also occur if one of the X chromosomes is partially missing or rearranged rather than completely absent. (medlineplus.gov)
Triple-X syndrome occurs in women who inherit three X chromosomes-their genotype is XXX or more rarely XXXX or XXXXX. (winetourismday.org)
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. (winetourismday.org)
Patients with the classic syndrome (about 50% of cases) lack one of the two X chromosomes (45,XO karyotype). (mhmedical.com)
Small supernumerary marker chromosomes (sSMC) are rare cytogenetic findings in general, but especially in Turner syndrome so called sSMC T in a karyotype 46, X, +mar are even more scarce. (lidsen.com)
Turner Syndrome happens when either part or all of one of the X chromosomes is missing. (healthypilipinas.ph)
In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. (msdmanuals.com)
Overview of Sex Chromosome Abnormalities Sex chromosome abnormalities may involve aneuploidy, partial deletions or duplications of sex chromosomes, or mosaicism. (msdmanuals.com)
Turner syndrome happens when one of a female baby's two X chromosomes is missing or incomplete. (whiletrue.live)
Diagnosis of Turner Syndrome and its genetic alterations can occur before a girl has been born through amniocentesis, or at any other point in her life with karyotype, which is a specific blood test that shows the number of chromosomes found in a person's cells, along with how those chromosomes look physically. (cram.com)
General designation for syndromes due to chromosomal aberrations, typically associated with mental … Thus, there are normally 23 pairs of chromosomes in the fertilized egg. (solarpoultry.com)
Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes. (upd-tl.com)

The main symptom of Turner syndrome is short stature . (medicinenet.com)
Turner syndrome has a number of physical and psychological impacts, including short stature, heart defects, neck webbing, delayed or absent puberty, and infertility. (wikipedia.org)
Turner syndrome is associated with short stature. (wikipedia.org)
The strength of the association between Turner syndrome and short stature is such that idiopathic short stature alone is a major diagnostic indication. (wikipedia.org)
When Turner syndrome is diagnosed in early life, growth hormone therapy can decrease the degree of short stature. (wikipedia.org)
The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. (medlineplus.gov)
They have, however, found that the loss of one copy of a gene called SHOX likely causes short stature and skeletal abnormalities in people with Turner syndrome. (medlineplus.gov)
Turner syndrome comprises a group of X chromosome disorders that are associated with spontaneous abortion, primary hypogonadism, short stature, and other phenotypic anomalies ( Table 26-16 ). (mhmedical.com)
Turner syndrome is generally characterised by short stature and non-functioning ovaries, usually leading to the absence of pubertal development and infertility. (contact.org.uk)
Turner syndrome causes women to have a short stature, lack breast development, and have no periods. (healthypilipinas.ph)
Clinical manifestations of Turner syndrome include a webbed neck, short stature, broad shield-like chest, anomalous auricles, and hypoestrogenemia resulting in sexual immaturity. (medscape.com)
Postnatally, Turner syndrome is clinically suspected because of short stature, gonadal dysgenesis, or lymphedema. (mhmedical.com)
This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome. (biomedcentral.com)
The main characteristic features of the 2nd trimester histories were irrelevant and syndrome are distinct facial features delay the pregnancy was completed at term by in using expressive language, short stature spontaneous vaginal delivery and cephalic and delayed bone age [4-7]. (who.int)
In the present case, most of the cardinal features of Floating-Harbor syndrome were present: triangular face, deep-set eyes, long eyelashes, broad nasal bridge, wide colu- mella, short smooth philtrum thin upper lip, posterior rotated ears, low hairline, short stature and microcephaly. (who.int)
Turner syndrome (TS) is characterized by gonadal dysgenesis, short stature, and dysmorphic features (neck webbing amongst others). (biomedcentral.com)

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. (wikipedia.org)
A genetic test called a karyotype analysis can confirm a Turner syndrome diagnosis. (winetourismday.org)
What is the karyotype for Turner's syndrome? (winetourismday.org)
Turner syndrome is associated with a 45,X karyotype, with a single X chromosome . (winetourismday.org)
When there is mosaicism, sometimes the karyotype can be normal. (healthypilipinas.ph)
If a patient with symptoms of Turner syndrome has a normal first karyotype, a second karyotype should be done on a different tissue, such as skin, buccal mucosa cells, or bladder epithelial cells. (healthypilipinas.ph)
The most common example of hypergonadotropic hypogonadism is found in Turner syndrome , which is caused by a 45,X karyotype. (medscape.com)
Individuals with Perrault syndrome have gonadal dysgenesis, a normal karyotype, and neurosensory deafness. (medscape.com)
Swyer syndrome is illustrated by a phenotypically immature female with a 46,XY karyotype without testis-determining factor on the Y chromosome and with failure to produce anti-müllerian hormone. (medscape.com)
Patients with mosaic 45, X/46,X(r)Y karyotype, present with phenotypes ranging from females with Turner-like phenotypes, phenotypic males and females with mixed gonadal dysgenesis, to almost phenotypic normal males [ 4 , 5 ]. (juniperpublishers.com)

CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. (figshare.com)

We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y). (biomedcentral.com)
Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome. (upd-tl.com)
The standard NIPS test screens for Down syndrome (also known as trisomy 21), trisomy 18, trisomy 13, trisomy X, Klinefelter syndrome (XXY), and Turner syndrome (monosomy X). (ggc.org)

Klinefelter's syndrome [KS], Turner's syndrome [TS]) often are diagnosed later in life by internists. (mhmedical.com)

In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
90% have developmental disability  20% have autism  Communication disorder o Delayed speech o Severe hypernasality leads to poor articulation and atypical pattern of language development o May appear apraxic or dyspraxic  Increased psychiatric disorders o Bipolar, schizophrenia, mood disorders DDX  Cayler Cardiofacial Syndrome (asymmetric crying facies +conotruncal cardiac malformation): also 22q11.2 deletion  CHARGE Syndrome also features congenital heart disease, immunodeficiency, hypocalcemia, and hearing loss. (kipdf.com)

Manifestations of Turner syndrome. (mhmedical.com)
Neurocutaneous Manifestations of Genetic Mosaicism. (medscape.com)

Girls with Turner syndrome have medical and developmental problems but can lead normal lives with proper medical care. (memorialcare.org)
Agenesis of the corpus callosum may occur as an isolated event or as part of numerous developmental and dysmorphic syndromes. (medlink.com)
THE BAKER'S DOZEN: Genetic Syndromes with Developmental Disabilities General Resources for Genetic Syndrome Diagnosis and Management:  www.genetests. (kipdf.com)
THE BAKER'S DOZEN: Genetic Syndromes with Developmental Disabilities General Resources for Genetic Syndrome Diagnosis and Management:  www.genetests.org Gene Reviews  Cassidy SB and Allanson JE. (kipdf.com)
Objectives  Recognize features of common genetic syndromes associated with developmental disabilities. (kipdf.com)
Become familiar medical problems associated with these syndromes and their developmental/behavioral outcomes. (kipdf.com)
Germline mutations and developmental mosaicism underlying EGFR -mutant lung cancer. (cdc.gov)

The mean adult height of women with Turner syndrome without growth hormone therapy is around 20 cm (8 in) shorter than the mean of women in the general population. (wikipedia.org)
It offers support, advice and information to girls and women with Turner Syndrome and their families. (contact.org.uk)
Girls and women with Turner syndrome are more likely to fracture their bones and have low bone mineral density (BMD). (healthypilipinas.ph)
There are between 50,000 and 75,000 girls and women with Turner syndrome in the United States ( Saenger, 1996 ). (mhmedical.com)

Researchers have not determined which genes on the X chromosome are associated with most of the features of Turner syndrome. (medlineplus.gov)
Dr Henry Turner reported a number of girls with the features of Turner syndrome in a paper in 1938. (contact.org.uk)

Trisomy 21 → gain of an extra chromosome 21, results in Down's syndrome. (mindmeister.com)
Trisomy 21, also referred to as Down's syndrome, is a chromosomal aberration characterized by the presence of an additional chromosome 21.Trisomy 21 is associated with a rate of incidence of 1:600 among newborns and is one of the most common chromosomal … However, they can also have detrimental effects. (solarpoultry.com)
Patients with Down's syndrome (DS) are prone to develop PD. (bvsalud.org)

Fitzgerald P.A. Fitzgerald, Paul A. Turner Syndrome (Gonadal Dysgenesis). (mhmedical.com)

The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. (figshare.com)
In cases where agenesis of the corpus callosum occurs as part of a syndrome or larger malformative cluster, the clinical scenario is usually dominated by the primary condition. (medlink.com)
The clinical, molecular, and cytogenetic findings in a boy with 45,X/46,X(r)Y mosaicism are described here. (juniperpublishers.com)
The clinical presentation of the subject that mimics Turner syndrome highlights the importance of cytogenetic analysis to detect the possibility of ring chromosome 9. (biomedcentral.com)
The clinical picture and exclude the presence of any mosaicism. (who.int)
Analysis of genetic variability in Turner syndrome linked to long-term clinical features. (cdc.gov)

Other patients with Turner syndrome have X chromosome abnormalities, such as ring X or Xq (X/abnormal X) or X chromosome deletions affecting all or some somatic cells (mosaicism, XX/XO). (mhmedical.com)

are said to have mosaic Turner syndrome. (medlineplus.gov)
One of her sisters was patients seen at Boston Floating Hospital found to have mosaic Turner syndrome. (who.int)

Turner syndrome (45, X, TS, monosomy X) is the genetic disorder resulting from the absence of all or part of one X chromosome in females. (biomedcentral.com)

A small percentage of people with Turner syndrome retain normal ovarian function through young adulthood. (medlineplus.gov)
Turner syndrome (TS), which is also called congenital ovarian hypoplasia syndrome, is the most common chromosomal problem that affects girls and women. (healthypilipinas.ph)
2010) Fertility Preservation by Ovarian Stimulation and Oocyte Cryopreservation in a indebted information kinematics: where with Turner Syndrome Mosaicism and Impending Premature Ovarian code. (ne.jp)
Turner syndrome (TS), sometimes referred to as congenital ovarian hypoplasia syndrome, is a genetic disorder. (whiletrue.live)

Turner syndrome occurs in between one in 2,000 and one in 5,000 females at birth. (wikipedia.org)
Turner syndrome is a chromosomal disorder that only occurs in females. (memorialcare.org)
Turner syndrome is the most common chromosomal abnormality that occurs in females. (mhmedical.com)

Other physical features associated with Turner syndrome may include coarctation of the aorta (narrowing of part of the aorta - the major artery leading out of the heart), webbing of the neck (skin fold that runs along the sides of the neck down to the shoulders), wide spaced nipples and puffy hands and feet. (contact.org.uk)

What are the signs and symptoms of Turner syndrome? (medicinenet.com)

Fragile X Syndrome Genetics  PCR/Southern blot: No. of trinucleotide CGG repeats FMR1 gene o Normal: 5-44 Intermediate "gray zone": 45-54 o Premutation carrier: 55-200 Full mutation: >200  Genetic Anticipation: Maternal premutation carrier transmits unstable FMR1 allele to offspring. (kipdf.com)

Turner syndrome is sometimes suspected in pregnancy during a routine ultrasound. (contact.org.uk)
This is because some mothers whose babies have Turner syndrome choose to end the pregnancy. (healthypilipinas.ph)

Mosaicism was studied by interphase fluorescence in-situ hybridization (FISH), using a specific probe for chromosome 21 (21q22.13-21q22.2) in 78 cases suspected of DS. (nih.gov)

Turner syndrome is a chromosomal condition that affects development in people who are assigned female at birth. (medlineplus.gov)
Turner syndrome exclusively affects females, and affected patients are generally missing all or part of the X chromosome in all or part of their cells. (mhmedical.com)

About 1 in 2000 to 1 in 2500 live female births are affected by Turner syndrome. (healthypilipinas.ph)

The 45,X/46,X(r)Y mosaicism has been rarely reported. (juniperpublishers.com)

Prenatal screening tests are conducted to help assess the child's DNA in the mother's blood (prenatal cell-free DNA screening or noninvasive prenatal screening), which may help identify the risk of Turner syndrome. (medicinenet.com)

Chorionic-villus sampling or amniocentesis can be used to find out if a baby will have Turner syndrome before it is born. (healthypilipinas.ph)
He has history of ring Y chromosome mosaicism diagnosed by amniocentesis performed due to advanced maternal age. (juniperpublishers.com)

incidental diagnosis, such as in biobank samples or prenatal testing for older mothers, finds many girls and women with few traditional signs of Turner syndrome. (wikipedia.org)
With more people knowing about prenatal ultrasounds, the number of babies born with Turner syndrome is decreasing. (healthypilipinas.ph)
If a prenatal ultrasound shows fetal hydrops, cystic hygroma, or heart problems, this could be a sign of Turner syndrome. (healthypilipinas.ph)
Prenatal screening refers to any test that assess the risk for a baby to have specific genetic conditions such as Down syndrome. (ggc.org)

unbalanced structural rearrangement, or mosaicism", cases with smaller copy number variations in the fetal genome detected on circulating fetal cells isolated from maternal blood were presented. (arcedi.com)
Approximately 50% of cases have full 45, X, 30% to 40% have mosaicism, and 10% to 20% have a structural abnormality of one X chromosome. (mhmedical.com)
Bone malformations in Proteus syndrome: an analysis of bone structural changes and their evolution during growth. (medscape.com)

A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. (biomedcentral.com)

Turner syndrome can prevent a girl from entering into puberty and keep it from occurring. (cram.com)

American endocrinologist Henry Turner first described the condition in 1938. (wikipedia.org)
Turner syndrome is named for Henry Turner, who in 1938 recognized the combination of sexual infantilism, webbed neck, and cubitus valgus to be a distinct entity. (mhmedical.com)

There is no cure for Turner syndrome. (medicinenet.com)

Generally people with Turner syndrome have a shorter life expectancy, mostly due to heart problems and diabetes. (wikipedia.org)
Some people with Turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. (medlineplus.gov)

Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network. (msdmanuals.com)

Most cases of Turner syndrome are not inherited. (medlineplus.gov)
Recent data suggest that chromosome mosaicism is a possible mechanism for intrauterine and postnatal survival in cases of trisomy 18 and Turner syndrome (45X). (nih.gov)
To rule out tissue specific mosaicism, buccal cells or amniocytes were analysed in addition to blood in 20 DS cases. (nih.gov)
In 20 cases of trisomy 21, two tissues were studied and mosaicism was not detected in either of the two tissues in 15 cases. (nih.gov)
These results suggest that mechanism(s) other than mosaicism may exist for the intrauterine and postnatal survival of DS cases. (nih.gov)
Also called 45,X mosaicism, this type makes up about 30% of Turner syndrome cases. (whiletrue.live)
In cases of suspected Proteus syndrome, clinicians must carefully use the standard diagnostic criteria (as listed below) to preclude misdiagnosis. (medscape.com)
Affecting approximately 1 in 2,500 girls at birth, Turner syndrome (TS) is one of the most common chromosomal disorders, in which subjects are monosomic for the X chromosome (45,X) or, in a minority of cases, present with mosaicism for the simultaneous presence of a normal 46,XX cell line. (embies.com)
Additionally, NIPS detects 99.2% of cases of Down syndrome (and slightly less for the other conditions), compared to an 85% detection rate for the first trimester screen. (ggc.org)
The remaining cases are due translocation, mosaicism and partial trisomy of the chromosome 21. (bvsalud.org)

The aim of this study was to evaluate if chromosomal mosaicism is a possible mechanism of survival in Down syndrome (DS) (trisomy 21) individuals. (nih.gov)

Patau's syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body's cells . (winetourismday.org)
Downs' syndrome is a genetic disorder which is caused by an error in cell division that results in the presence of an extra copy of chromosome 21. (cram.com)

Down Syndrome (DS) is the most common chromosomal aberration resulting from trisomy of the chromosome 21. (bvsalud.org)

About 12% of patients harbor mosaicism for Y chromosome sequences. (mhmedical.com)
45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. (figshare.com)
Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. (figshare.com)
Patients with Swyer syndrome have normal female external genitalia, a patent vagina, and a normal uterus. (medscape.com)

Turner syndrome results when one normal X chromosome is present in cells and the other sex chromosome is missing or structurally altered. (medlineplus.gov)
Together, these data demonstrate that human brain cells (both neurons and non-neuronal cells) can be aneuploid and that the resulting genetic mosaicism is a normal feature of the human CNS. (jneurosci.org)

What is the cause of Patau syndrome? (winetourismday.org)
Dusk - created for Trisomy 13 (Patau Syndrome). (solarpoultry.com)

Anatomy9

Diseases26

Chemicals and Drugs3

Analytical, Diagnostic and Therapeutic Techniques and Equipment6

Psychiatry and Psychology1

Phenomena and Processes19

Anthropology, Education, Sociology and Social Phenomena1

Phenotype12

Chromosomes17

Short stature16

Karyotype10

Mixed gonadal dy1

Klinefelter3

Turner's1

Deletion2

Manifestations2

Developmental7

Women with Turner syndrome4

Features of Turner syndrome2

Down's3

Gonadal1

Clinical6

Deletions1

Mosaic Turner syndrome2

Monosomy1

Ovarian4

Occurs3

Coarctation of th1

Symptoms of Turner syndrome1

Genetics1

Pregnancy2

Fluorescence1

Affects2

25001

Rarely1

Mother's1

Amniocentesis2

Prenatal4

Structural3

Phenotypic1

Puberty1

Henry Turner2

Cure for Turner syndrome1

People with Turner syndrome2

Prevalence1

Cases10

Trisomy 211

Genetic disorder2

Chromosome 211

Patients4

Normal2

Patau2