Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY

  title={Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY},
  author={Jeannie Visootsak and Beth A. Rosner and Elisabeth M. Dykens and Nicole R. Tartaglia and John M Graham},
  journal={American Journal of Medical Genetics Part A},
Sex chromosomal aneuploidy is the most common disorder of sex chromosomes in humans, with an incidence of 1 in 400 newborns. The addition of more than one extra X and/or Y chromosome to a normal male karyotype is less frequent and has its own distinctive physical and behavioral profile. This study examines the behavioral similarities and differences in individuals with 48,XXYY compared to 48,XXXY and 49,XXXXY. The participants include 11 males with 48,XXYY and 13 males with 48,XXXY and 49,XXXXY… 

Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY.

Klinefelter syndrome (47,XXY) was initially described in the context of its endocrinologic and physical features; however, subsequent studies have revealed specific impairments in verbal skills and

Rare sex chromosome variation 48,XXYY: An integrative review

The purpose of this integrative review is to summarize the available evidence related to 48,XXYY and identify gaps in the literature, and to better understand this disorder and to appropriately treat the individuals affected by it.

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A link between CpG methylation levels and behavior in boys with 49,XXXXY is suggested, compared to that inboys with 47,XXY and neurotypical boys.

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What is known about clinical variability in the XY syndromes collectively evaluated through careful multidisciplinary clinical evaluation is discussed including the clinical and neurobehavioral aspects of these conditions.

A rare sex chromosome aneuploidy: 48,XXYY syndrome.

A 6-year old male patient was hospitalized due to recurrent respiratory tract infections, recurrent abdominal distention and dyspepsia and received treatment for gastroesophageal reflux and his symptoms improved with treatment, and was diagnosed with 48,XXYY syndrome.

Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

This is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation in an infertile man with tall stature and decreased testicular volume.

X & Y Chromosomal Variations: Hormones, Brain Development, and Neurodevelopmental Performance

This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression, and the effects of testosterone supplementation in males with 47, XXY.

48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

Sex chromosome tetrasomy and pentasomy conditions are associated with additional physical findings, congenital malformations, medical problems and psychological features, and the spectrum of cognitive abilities extends much higher than originally described.

Effects of sex chromosome aneuploidies on brain development: evidence from neuroimaging studies.

The observation that 47,XXX females also show decreased brain volume in the presence of normal pubertal maturation suggests a possible direct dosage effect of X chromosome genes, which may help to understand the basis for functional differences in affected individuals.



Sex chromosome tetrasomy and pentasomy.

What is known about poly X and Y karyotypes is summarized and 10 additional cases are presented to present.

Mental development in polysomy X Klinefelter syndrome (47,XXY; 48,XXXY): effects of incomplete X inactivation.

The neurobehavioral and neurocognitive phenotype of boys with XXY places them at risk for school failure and secondary behavioral disturbances, therefore, early evaluation and intervention is strongly recommended since the prognosis may be improved significantly with appropriate therapeutic intervention.

Syndrome Characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and Increased Excretion of Follicle-Stimulating Hormone1

The syndrome under discussion begins during 11 adolescence and is characterised by gynecomastia and a very specific type of hypogonadism, and evidence of normal to moderately reduced function of the Leydig cells, increased excretion of follicle-stimulating hormone (FSH), and usually a reduced excrete of 17-ketosteroids is found.

Klinefelter syndrome: Expanding the phenotype and identifying new research directions

New data on etiology and clinical features of Klinefelter syndrome is summarized in order to derive research priorities and Behavioral and expressive language difficulties are amenable to treatment by androgen therapy and psychological help.

Kilnefelter Syndrome and Its Variants: An Update and Review for the Primary Pediatrician

The current state of knowledge regarding Klinefelter syndrome and its variants is reviewed, with an emphasis on medical and early developmental interventions.

Cancer incidence in men with Klinefelter syndrome.

A cohort of 696 men with Klinefelter syndrome was established and a considerably elevated risk of mediastinal germ cell tumours occurs in the period from early adolescence until the age of 30, where no routine cancer screening seems to be justified.

Toward a comprehensive assessment of fundamental motivation : Factor structure of the reiss profiles

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