The first page of this article is displayed as the abstract. Previous Article Next Article. 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. Meiosis and sex chromosome aneuploidy: Language and cognitive development in 47,XXX females followed since birth.
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A review of trisomy X (47,XXX)

Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. J Neurol Neurosurg Psychiatry. A comprehensive review of trisomy X literature with an emphasis on mental health has recently been published by Otter et al. Concavity and convexity I. Genetics 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 ]. Language and cognitive development in 47,XXX females followed since birth. LW initiated review, developed outline for manuscript with references.
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Index (Volume XXI–XXX)

Couples should be informed of the high frequency of trisomy X 1 per female births and that most girls go undiagnosed, in order to support them in understanding and accepting that their diagnosis is not an isolated case with a predetermined outcome [ 46 ]. Management Evaluation and treatment recommendations depend on the age of the patient and severity of the phenotype, however, all individuals should undergo a medical history and physical examination with an emphasis on features requiring monitoring and intervention as outlined in this review. Chromosome Abnormalities and Genetic Counseling; p. Outcomes of those diagnosed in the prenatal period have been found to be better than those of patients described in the prospective studies birth cohorts and than those in case reports of girls identified after birth ascertained due to developmental delays [ 64 ]. You have access to this content.
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Abstract 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. J Pediatr Adolesc Gynecol. Macmillan and Co, , Chap. For reproduction of material from NJC: Assessment and documentation of adaptive functioning life skills in domains including self-care, communication, social, community use, safety, and self-direction is important to identify strengths and weaknesses in these areas. 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.
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