دورية أكاديمية
A review of trisomy X (47,XXX)
العنوان: | A review of trisomy X (47,XXX) |
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المؤلفون: | Sutherland Ashley, Howell Susan, Tartaglia Nicole R, Wilson Rebecca, Wilson Lennie |
المصدر: | Orphanet Journal of Rare Diseases, Vol 5, Iss 1, p 8 (2010) |
بيانات النشر: | BMC BioMed Central Ltd. BioMed Central |
سنة النشر: | 2010 |
مصطلحات موضوعية: | Medicine, psy, edu |
الوصف: | 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 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. 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. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. 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. School-age children and adolescents benefit from a psychological evaluation with an emphasis on . |
نوع الوثيقة: | article in journal/newspaper review |
اللغة: | English |
العلاقة: | https://doi.org/10.1186/1750-1172-5-8Test |
DOI: | 10.1186/1750-1172-5-8 |
الإتاحة: | https://doi.org/10.1186/1750-1172-5-8Test |
حقوق: | undefined |
رقم الانضمام: | edsbas.CC23BC8F |
قاعدة البيانات: | BASE |
DOI: | 10.1186/1750-1172-5-8 |
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