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Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females 47,XXX instead of 46,XX. It is the most common female chromosomal abnormality, occurring in approximately 1 in 1, female births. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure POF can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders anxiety and depression , and other psychological disorders are also more common than in the general population. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF.
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Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females 47,XXX instead of 46,XX. It is the most common female chromosomal abnormality, occurring in approximately 1 in 1, female births. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly.

Seizures, renal and genitourinary abnormalities, and premature ovarian failure POF can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders anxiety and depression , and other psychological disorders are also more common than in the general population.

The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined.

Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism.

Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. Adolescents and adult women presenting with late menarche, menstrual irregularities, or fertility problems should be evaluated for POF. Patients should be referred to support organizations to receive individual and family support. The prognosis is variable, depending on the severity of the manifestations and on the quality and timing of treatment.

Trisomy X 47,XXX is a sex chromosome aneuploidy condition in which females have an extra X chromosome, compared to the 46,XX karyotype in typical females. It was first described in in a year-old woman with normal intellectual abilities who presented with secondary amenorrhea at 19 years of age [ 1 ]. Since the initial description, only several hundred cases have been described, identifying a variety of associated developmental, psychological, and medical features.

Most of the background literature on trisomy X comes from longitudinal prospective studies of females identified by newborn screening and followed into young adulthood. These studies were conducted in the 's and 80's at multiple centers across the U. There is considerable variation in the phenotype, with some individuals very mildly affected and others with more significant physical and psychological features.

This manuscript reviews the current literature available describing features associated with trisomy X, with recognition that much of the literature is based on small sample sizes and clinical ascertainment of patients, and does not likely represent the full spectrum of females with trisomy X. However, review of the current knowledge is necessary to provide a summary of background and treatment recommendations for patients and professionals, and to highlight the many areas of need for additional research in trisomy X.

Significant facial dysmorphology or striking physical features are not commonly associated with 47,XXX, however, minor physical findings can be present in some individuals including epicanthal folds, hypertelorism, upslanting palpebral fissures, clinodactyly, overlapping digits, pes planus, and pectus excavatum.

Hypotonia and joint hyperextensibility may also be present [ 2 , 7 ]. Variable facial features in girls with trisomy X. Length and weight at birth is usually normal for gestational age, however, stature typically increases in early childhood, and by adolescence most girls with 47,XXX are at or above the 75 th percentile for height [ 2 ].

A few cases have been ascertained due to tall stature [ 8 ], and current evaluation of tall stature in females should include karyotype analysis to evaluate for 47,XXX. Cases of short stature have also been described unrelated to a known 45,X mosaicism , and one prospective study identified a subgroup of 47,XXX girls with heights below the 50 th percentile [ 9 ]. Body segment proportions typically show long legs, with a short sitting height [ 10 ]. Studies of bone age have shown no significant differences from 46,XX females [ 11 ].

The average head circumference is below the 50 th percentile, however, there is a lot of individual variation. Although major medical problems are not present in most cases, other medical problems may be associated with trisomy X. The most common are genitourinary abnormalities, ranging from unilateral kidney and renal dysplasia to ovarian malformations [ 14 ]. Congenital heart defects have also been described including cases of atrial and ventricular septal defects, pulmonic stenosis, and aortic coarctation [ 15 - 17 ].

Seizure subtypes including absence, partial, and generalized seizures have been described, with good responses to standard anticonvulsant treatments [ 18 - 21 ]. Gastrointestinal problems, including constipation and abdominal pain, are also common concerns [ 2 , 22 ]. Pubertal onset and sexual development are usually normal in trisomy X, however, there have been cases of ovarian or uterine dysgenesis described in children and young adults with trisomy X.

Premature ovarian failure POF is a condition in which the ovarian functions of hormone production and oocyte egg development become impaired before the typical age for menopause. There are multiple case reports of women with trisomy X found to have POF, with endocrine findings of hypergonadotropic hypogonadism. The ages of these cases have ranged from 19 to 40 years [ 1 , 23 , 24 ]. Studies on the prevalence of POF in adolescents or adults with trisomy X have not yet been performed.

In trisomy X, a large percentage of the reported cases of POF have also been associated with other autoimmune diseases [ 23 , 26 , 27 ], including autoimmune thyroid disorder [ 25 ].

Precocious puberty has also been described but is not a typical finding. There have been no direct studies of fertility in trisomy X, however, many reports of successful pregnancies have been described, and fertility is likely normal in most cases unless complicated by a genitourinary malformation or POF as described above [ 2 ].

There is a significant need for more research in this area in the trisomy X population. There is significant variability in the developmental and psychological features of children and adults with trisomy X, ranging from those with minimal involvement to those with clinically significant problems requiring comprehensive intervention services. Thus, individual evaluation of developmental and psychological problems known to be associated with trisomy X is important in each individual.

Infants and toddlers are at increased risk for early developmental delays, especially in speech-language development and motor development related to hypotonia. Average age at walking independently is Prospective studies comparing girls with trisomy X at 24 months of age to sibling controls show impairments in speech and language development. Expressive language may be more impaired than receptive language, with a pattern described as developmental dyspraxia in some patients.

However, other patients show impairments in both expressive and receptive language [ 28 ]. Speech and language deficits may continue throughout childhood into adulthood, with higher level language difficulties including problems with language processing, verbal fluency, language comprehension, and pragmatic language in some patients [ 2 , 28 , 29 ]. Studies on cognitive abilities in trisomy X also show a wide range of cognitive skills, with full scale IQ's ranging from across various studies [ 28 - 34 ]. While there are clearly many girls with trisomy X with cognitive skills in the average to above average range, cognitive deficits and learning disabilities are more common than in the general population and when compared to sibling controls.

However, due to the shift of the curve, a larger percentage of females with 47,XXX fall in the intellectual disability range compared to controls. Adapted and reprinted with permission from Bender et. Motor skill deficits may also be present. Walking may be delayed, and decreased muscle tone and lack of coordination are often clinically significant.

An extensive motor study of 10 children with trisomy X showed ongoing motor planning difficulties and overall weaknesses in motor skills and motor coordination, along with gait abnormalities and poor joint stability [ 2 , 38 ]. Attentional problems, poor executive function, and decreased adaptive functioning skills may also impact educational and home functioning.

Anxiety concerns are mostly related to social avoidance, generalized anxiety and separation anxiety, and can present in the early school age years or in adolescence. Childhood anxiety and language weaknesses are a difficult combination for affected children as the demanding verbal environments often found in school settings can exacerbate anxiety and result in behavioral difficulties. Language deficits may also impact social adjustment in some children when they have difficulty communicating with playmates and when self-expression is limited in older children and adolescents.

Social immaturity relative to peers may be present, and this, along with cognitive and executive function impairments, can make some girls with trisomy X vulnerable to social pressures from peers and victimization.

Other mental health disorders including adjustment disorders, mood disorders and psychotic disorders have been described in case series and reports [ 2 , 41 - 43 ], and comprehensive studies evaluating features of these disorders in the trisomy X population are needed. A comprehensive review of trisomy X literature with an emphasis on mental health has recently been published by Otter et al.

Again, the variability in the phenotype needs to be emphasized, since many females with trisomy X have minimal cognitive, social, or emotional difficulties. Since the longitudinal studies of the 's and 80's of females with trisomy X followed into adulthood, there have been very few additional research studies focused exclusively on this genetic disorder. A neuroimaging study conducted in in 10 girls with trisomy X from the original longitudinal cohort in Denver mean age Another MRI study of 12 girls with trisomy X mean age The significance or neuropathological findings of these white matter abnormalities are not yet known, however, they suggest that gene dosage effects from sex chromosome genes affect white matter development.

In typical 46,XX females, only one X chromosome in each cell is genetically active and the other is inactivated through DNA methylation and the accumulation of a histone variant throughout the chromosome [ 49 ]. X-inactivation occurs early in blastogenesis and is controlled by the X chromosome inactivation center XIC , which counts the X chromosomes present and randomly inactivates all but one X chromosome per diploid set. However, particular segments of the X chromosome, known as the pseudoautosomal regions PAR1 and PAR2 , have Y chromosome homologs and therefore are not inactivated and remain genetically active [ 50 , 51 ].

Thus, in trisomy X, two of the three X chromosomes are inactivated, however, genes in the PAR regions and other genes that escape X-inactivation are expressed from the three X chromosomes. It is hypothesized that the phenotypic abnormalities associated with trisomy X result from overexpression of these genes on the X chromosome that escape X-inactivation [ 30 , 52 , 53 ].

While there is some microarray evidence of overexpression of X-chromosome genes in cells lines with supernumerary X chromosomes [ 54 ], the specific genes involved in the phenotype of trisomy X and other sex chromosome aneuploidies have not been identified.

One exception is the SHOX gene, which escapes X-inactivation and is associated with the short stature seen in Turner syndrome and the tall stature in supernumerary sex chromosome aneuploidy conditions [ 55 , 56 ]. Trisomy X occurs from a nondisjunction event, in which the X chromosomes fail to properly separate during cell division either during gametogenesis resulting in a trisomic conceptus , or after conception known as post-zygotic nondisjunction. Similar to other trisomies, trisomy X has been shown to have a statistically significant correlation with advancing maternal age, as the likelihood of nondisjunction events during meiosis increases with increasing maternal age.

Karyotype analysis of peripheral blood is the most standard test used to make the diagnosis. It is also important to identify mosaicism with a Turner syndrome 45,X cell line in order to determine appropriate medical evaluations and treatments needed for Turner syndrome. The physical and psychological manifestations of trisomy X are variable, and a karyotype should be considered in females presenting with:.

Developmental and behavioral features in trisomy X can be similar to those seen in females with fragile X syndrome. Females suspected of having fragile X with a negative fragile X test should have a karyotype completed to evaluate for trisomy X [ 16 ]. Tetrasomy X and pentasomy X syndromes share most features of trisomy X, however, they are usually associated with more significant developmental delays, dysmorphic features absent in trisomy X , and congenital malformations compared to trisomy X [ 16 , 53 ].

Females with pentasomy X typically have short stature [ 56 ]. Due to features in the newborn period such as hypotonia, hypertelorism and epicanthal folds, some patients with trisomy X are ascertained by karyotype performed due to suspicion for trisomy 21 or trisomy 21 mosaicism. Other genetic conditions associated with tall stature could also be considered depending on the clinical presentation, such as Marfan syndrome long limbs, hyperextensibility , and the Sotos' and Beckwith-Weidemann syndromes cognitive impairments.

Adolescents or adult females presenting with POF should be tested for trisomy X, Turner syndrome, and the fragile X premutation, and should have further evaluation to identify other possible medical causes of POF. Individuals with these diagnoses should be further evaluated medically to determine if testing for trisomy X or other medical conditions is indicated. The differential diagnosis is eliminated after results of a karyotype analysis show trisomy X 47,XXX , unless there are significant impairments moderate or severe intellectual disability , congenital malformations, or medical problems not consistent with the trisomy X phenotype.

In these cases, additional genetic and medical evaluation is warranted to rule out other disorders, since these may co-exist with trisomy X due to the high incidence of births. Karyotype testing of females presenting with short stature and a Turner syndrome phenotype have shown findings of nonmosaic 47,XXX in blood lymphocytes, however, genetic testing of another tissue such as skin biopsy or buccal cells identified 45,X mosaicism [ 59 ].

Thus, individuals found to have trisomy X with a Turner syndrome phenotype should have a second tissue type analyzed by cytogenetic or FISH studies to further evaluate for a 45,X cell line since this changes treatment recommendations. Genetic counseling for prenatally diagnosed cases of trisomy X should address the medical, developmental, and psychological manifestations of the condition as outlined in this review.



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