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

@article{Visootsak2007BehavioralPO,
  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},
  year={2007},
  volume={143A}
}
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… 

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References

SHOWING 1-10 OF 27 REFERENCES

Sex chromosome tetrasomy and pentasomy.

TLDR
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.

TLDR
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

TLDR
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

TLDR
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

TLDR
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.

TLDR
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

Two instruments were developed to provide a comprehensive assessment of the strength of a person's fundamental end goals and motivational sensitivities. One instrument was a self-report inventory for

Manual for the child behavior checklist/4-18 and 1991 profile