Pdf we report the results of a molecular investigation of 25 patients who had turner syndrome and who had previously been subject to analysis using. Phenotypic effects of mosaicism for a 47,xxx cell line in. Turners syndrome, or monosomy x, is defined as the total or partial loss of the second. Most women with turners syndrome have ovarian dysgenesis.
She also has a congenital heart defect, pulmonary atresia with vsd. Ophthalmic findings are described in four patients with mosaic turner syndrome. All had anterior chamber abnormalities and all four had karyotypic abnormalities with a 45, x cell line. In rare cases, turner syndrome may be caused by a missing piece partial deletion of the x. As a result, some of an affected persons cells have the usual two sex chromosomes, and other cells have only one copy of the x chromosome. Mosaic turner syndrome shows reduced penetrance in an adult. Turner syndrome is a genetic condition that affects 1 in every 2,000 to 2,500 liveborn girls.
Turners syndrome ts is well known, but prognosis for 45,x 46,xx mosaicism below 30%. Mosaic turners syndrome with unusual manifestations. Jan 11, 2016 mosaicism of both the x and the y chromosome is a common finding in turner syndrome. If the combination is missing one x of the sex cms, a female is born with 45 instead of 46 cms, to reflect the loss. In mosaic turner syndrome, missing of an x chromosome at the primary stages of embryonic development causes the certain cellular structure of the body receive a single x chromosome. This page from the emedtv site further defines mosaic turner syndrome and offers information on. Turners syndrome can be diagnosed at all stages of life even during fetal development. Pdf mosaic turner syndrome associated with schizophrenia. Often, a short and webbed neck, lowset ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Mosaicism need not necessarily be deleterious, though. Although the classic form of this condition is associated with 45, x46,xy mosaicism, 45,x47,xyy or 45,x46,xy47,xyy mosaic karyotypes have also been reported. Occasionally, in females with mild signs and symptoms of turner syndrome, the diagnosis is delayed until the teen or young adult years. As previously mentioned, mosaic type of turner syndrome is characterized by the absence of the sex chromosome in some cells and its presence in others. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent.
Some females with turner syndrome may have mosaic turner syndrome, which means that some cells in their body have one x chromosome while other cells may have two or three x chromosomes or an x and a y chromosome. She had open heart surgery for it at 5 days old but is thriving right now. Turner syndrome genetic and rare diseases information. Our aim is to evaluate reproductive and obstetric outcomes of natural conception and invitro fertilization ivf. Cardiovascular problems in turner syndrome are a major. Spontaneous pregnancies in a turner syndrome woman with ychromosome mosaicism. Turner 45,x syndrome may be detected on some cfdna screens but is associated with a high false positive rate only 50% of positive tests will actually have fetal turner syndrome. The full text of this article is available in pdf format.
Turner syndrome ts is characterized by partial or complete loss of the. Turners syndrome is usually diagnosed before birth through amniocentesis. This also occurs due to a random event, during early fetal development rather than before conception. But, time is of the essence to initiate treatment, as growth will be inhibited after a certain age and development. Karyotypic variables in turner syndrome international. Mosaic turners syndrome with unusual manifestations jama. Mosaic turner syndrome presenting with a 46,xy karyotype. Turner syndrome leeds teaching hospitals nhs trust. Turner syndrome, characterized by the presence of a monosomy x cell line, is a common chromosomal disorder. Thus, the observation of apparent nonmosaic 45,x chromosomal complements in liveborn individuals with turner syndrome does not contradict the hypothesis that some degree of mosaicism is necessary for survival in early pregnancy. Girls with turner syndrome are typically short in relation to the height of their parents.
Girls with turner syndrome in a mosaic form often have fewer features of. Girls with a mosaic form of ts vary more in their growth, yet 50% are shorter than 95% of other 2yearold girls. We report the case of a taiwanese patient with mosaic turner syndrome with generalized tonicclonic epilepsy and asymmetrical lateral ventricles but. Mosaic turner syndrome in about half of the cases of turner syndrome one x chromosome is missing from or is changed in some, but not all, of the cells of the 3. Girls and women with turner syndrome need ongoing medical care from a variety of specialists. The mosaic turner syndrome is one of the more moderate types of the disorder. Cardiovascular problems in turner syndrome are a major concern endocrine today 32916, 11. Its also possible for a person with turner syndrome to have whats known as chromosomal mosaicism, or mosaic turner syndrome, in which some cells have the normal number of x. Turner syndrome patient fact sheet oncofertility consortium. Patients with turner syndrome are at risk of congenital. Generalized epilepsy in a patient with mosaic turner. We describe a case of turner syndrome with a 46,xy genotype by conventional 5cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,x and 82% 46,xy by 50cell fish analysis. The lost cms can effect every cell in the body, resulting in a variety of heart, kidney, brain or other problems. Instead of the normal xx sex chromosomes for a female, only one x chromosome is present and fully functional.
Karyotype, karyotypic variations, mosaicism, turner syndrome. A turner syndrome growth chart is available for those below the 0% percentile on the standard growth chart. Mosaic turner syndrome ts is a condition in which cells inside the same person have different chromosome packages. Mosaic variants of turners syndrome have been reported to occur in about 20% of the cases and they show wide variations in their phenotypes. Sex chromosome mosaicism is responsible for clinical changes from 6% of aneuploidy. Anterior segment dysgenesis in mosaic turner syndrome.
Recent data suggest that chromosome mosaicism is a possible mechanism for intrauterine and postnatal survival in cases of trisomy 18 and turner syndrome 45x. Chances of spontaneous pregnancy in ts are rare and the outcome of the pregnancies is known to be poor with an increased risk of miscarriage and stillbirths. Mosaicism of both the x and the y chromosome is a common finding in turner syndrome. Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one x chromosome, often in mosaic karyotypes. The published prevalence of turner syndrome is 40100,000, but only 60% of those turner syndrome cases are caused by 45,x or 45,x46,xx mosaicism, the rest being due to other abnormalities such as.
Mosaic turner syndrome pictures, symptoms, what is, causes. Sexual health needs of a patient with mosaic turners syndrome. Turner syndrome is a femaleonly genetic disorder that affects about 1 in every 2,000 baby girls. Some females with turner syndrome may have mosaic turner. A girl with turner syndrome is missing one whole x chromosome 45,xo or part of an x chromosome. A girl with turner syndrome only has one normal x sex chromosome, rather than the usual two. Pdf mosaic turner syndrome with associated metabolic and. Diagnosis and management thomas morgan, md, washington university school of medicine, st. Mosaic turner syndrome shows reduced penetrance in an. There is treatment to augment the primary characteristic clinical short stature in young females with turner syndrome. Reports on cases of epilepsy in turner syndrome are rare and most of them have cortical developmental malformations. Answers from trusted physicians on mosaic turner s syndrome. She will need another surgery in a couple years to replace her conduit. Pediatric endocrinology fact sheet turner syndrome.
Signs of turner syndrome and mosaic turner syndrome. Turner s syndrome ts is depicted as a total or partial absence of one x chromosome that results in ovarian dysgenesis. Turner syndrome was diagnosed later in the case of mosaicism p 0. Jun 10, 2015 turners syndrome ts is depicted as a total or partial absence of one x chromosome that results in ovarian dysgenesis. Girls with turner syndrome make growth hormone naturally in the pituitary gland, but their bodies do not use it appropriately. Amniocentesis or cvs, is required to confirm a positive cfdna screen presently, invasive testing is the only way to diagnose fetal turner syndrome. The clinical phenotype associated with a 45, x46,xy mosaicism is highly variable, and the true prevalence. Pdf turner syndrome is a disorder of females is characterized by the absence of all or part of a normal second sex chromosome.
Similar turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild classic turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. Around 30% of turners syndrome cases demonstrate mosaicism, while complete monosomy 45, x occurs in about 5060% of cases. Aug 05, 2017 but in the case of mosaic turner syndrome, either egg or sperm contains 22 chromosomes and join with 23 chromosomes and resultant of this leads to the development of embryo with 45 chromosomes. A woman with turner syndrome will have one of three possible x chromosome problems, one of which is called mosaic turner syndrome, or the absence of the x chromosome in some cells.
Symptoms the signs and symptoms of turner syndrome. Turners syndrome pictures, symptoms, treatment, life. Clinical and genetic aspects of turners syndrome medicina. When some of the cells have one x chromosome and no other x or y chromosome, and other cells have either the usual two sex chromosomes two xs or one x and one y or other chromosomal differences, it is called mosaic turner syndrome. Females with classic turner syndrome have one copy of the x chromosome in the cells of their body. Hereditas 1 1999 mosaicism in turner syndrome females 89 table 1.
We report the case of a taiwanese patient with mosaic turner syndrome with generalized tonicclonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. Pdf a middle aged woman with mosaic turner syndrome. In an affected individual, it occurs as a random event during cell division in early fetal development. Women with turner syndrome caused by x chromosome mosaicism are said to have mosaic turner syndrome. There are sporadic few case reports of concomitant turner syndrome with schizophrenia worldwide.
Some women with turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. Louis, missouri t urner syndrome is diagnosed in females with partial or complete. The table shows the degree of 45,x46,xx mosaicism in twenty turner females chosen jor the present study. Turner syndrome may be diagnosed before birth prenatally, during infancy or in early childhood. The features of mosaic turner syndrome can vary considerably from individual to individual. Turner syndrome occurs in one out of every 5000 live female births and the diagnosis is usually based on the clinical presentation. Thus, the observation of apparent non mosaic 45,x chromosomal complements in liveborn individuals with turner syndrome does not contradict the hypothesis that some degree of mosaicism is necessary for survival in early pregnancy. The triple x syndrome in the nonmosaic state is associated with a decrement in intelligence from that expected based on parental and sib accomplishment, normal stature, and normal fertility. In the last 9 years, 17 of 1681 patients who underwent cytogenetic evaluation to investigate uncertain chromosomal anomaly had turner syndrome. Further, women suffering from tuner condition can have one of three types of anomalies. Current best practice in the management of turner syndrome ncbi. Treatment with additional highdose growth hormone reduces. Scientists believe the loss of one shox gene is the main cause of short stature in turner syndrome.
Mosaic male fetus of turner syndrome with partial chromosome. Its also possible for a person with turner syndrome to have whats known as chromosomal mosaicism, or mosaic turner syndrome, in which some cells have the normal number of x chromosomes and some. Mosaic turner syndrome in about half of the cases of turner syndrome one x chromosome. A turner syndrome patient carrying a mosaic distal x. Jan 18, 2018 mosaic turner syndrome, mosaicism, or turner mosaicism is where the abnormalities occur only in the x chromosome of some of the bodys cells. Routes to parenthood for women with turner syndrome mariano mascarenhas mbbs ms dnb mrcog,a james oliver mbchb mrcp phd,b harish m bhandari mbbs md mrcog c, aspecialty registrarclinical fellow in reproductive medicine, leeds teaching hospitals nhs trust, leeds fertility, seacroft hospital, leeds ls14 6uh, uk bconsultant in adult congenital heart disease, leeds teaching hospitals nhs. Revertant somatic mosaicism is a rare recombination event with a spontaneous correction of a. Treatment for these patients ought to be multidisciplinary, with the. Mosaic turner syndrome, occurring when a person has some cells with one x chromosome and some cells with two x chromosomes, is also not inherited. Turners syndrome in the male with chromosomal mosaicism. Usually, a girl is born with 2 x chromosomes 46,xx in each cell. Patients with turner syndrome are usually phenotypically female, and male cases are rarely reported.
Turner syndrome encompasses a number of chromosomal abnormalities, of which monosomy x, is the most common. Mosaic turner syndrome is a sex chromosomal disorder occur in females. Four subjects 14, 15, 18 and 19 had a sinail number of cells with the 47,xxx karyotype. Patients with turner syndrome generally do not have growth hormone deficiency ghd. Turners syndrome ts is well known, but prognosis for 45,x46,xx mosaicism below 30%. On average, adult women with untreated turner syndrome are 20cm 8in shorter than adult women without the syndrome.
A nonmosaic 45,x karyotype in a mother with turneros syndrome. The proportion of 46,xx cells in buccal epithelium was established by fluorescence in situ hybridisation fish. Learn about turner syndrome, including its causes, symptoms, diagnosis and treatment. Pdf we report the case of a 55 years old female with mosaic turner syndrome presenting in the internal medicine ward for complex medical. See more ideas about turner syndrome, will turner and vintage vogue covers. Treatment with additional highdose growth hormone reduces this difference by about 5cm about 2in on average.
Short stature is the single most common physical abnormality in turner syndrome, and individuals not treated with growthpromoting techniques achieve an adult. This chromosome variation happens randomly when the baby is conceived in. Mosaic turner syndrome, like turner syndrome, is not typically inherited. Every 3 out of every 10 girls with ts will have some form of mosaic ts.
Although turner syndrome is most commonly associated with a 45,x genotype, other mosaic genotypes are present in approximately half of all cases. But in the case of mosaic turner syndrome, either egg or sperm contains 22 chromosomes and join with 23 chromosomes and resultant of this leads to the development of embryo with 45 chromosomes. Alawadi kuwait medical genetics centre, maternity hospital, kuwait received 16. Routes to parenthood for women with turner syndrome. Turners syndrome ts is depicted as a total or partial absence of one x chromosome that results in ovarian dysgenesis. A non mosaic 45,x karyotype in a mother with turneros syndrome. Mosaic turner syndrome describes women who are missing the x chromosome in some cells. Generalized epilepsy in a patient with mosaic turner syndrome. Turner syndrome is a genetic condition that affects the bodys chromosomes and how girls and women develop. The findings suggest that in vivo selection of structurally altered sex chromosomes exists. This type of turner syndrome may result milder symptoms than other types of the disorder. Jun 18, 2019 turner syndrome is a rare condition in women that is associated with either complete or partial loss of one x chromosome, often in mosaic karyotypes. This page from the emedtv site further defines mosaic turner syndrome and offers information on its symptoms and diagnosis. Turner syndrome ts, also known 45,x, or 45,x0, is a genetic condition in which a female is partly or completely missing an x chromosome.
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