48,XXYY

/48,XXYY

Klinefelter Syndrome and Other Sex Chromosomal Aneuploidies

The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although [...]

October 28th, 2016|

ADHD – More research from the team at the eXtraordinarY Kids Clinic in Denver

Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY Tartaglia, Nicole R. MD; Ayari, Natalie BA; Hutaff-Lee, Christa PhD; Boada, Richard PhD Link to article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3348431/pdf/nihms363084.pdf Please share this article with your healthcare providers and with other professionals (therapists, school support staff and administrators, etc.).

October 25th, 2016|

Timing of Diagnosis of 47,XXY and 48,XXYY: A Survey of Parent Experiences

47,XXY/Klinefelter syndrome is the most common sex chromosomal aneuploidy, yet 64% of males with this condition go undiagnosed. 48,XXYY is less common and there is less known about the diagnosis. The objective of this study is to describe the diagnosis experiences of parents of males with 47,XXY and 48,XXYY. Parents of 89 males with 47,XXY [...]

October 23rd, 2016|

Clinical research: Extra X impairs awareness of others’ minds

Kate Yandell Published: June 13, 2014 References: 1.) van Rijn S. et al. Genes Brain Behav. Epub ahead of print (2014) 2.) Bishop D.V. et al. Arch. Dis. Child 96, 954-959 (2011) Girls and boys born with an extra X chromosome both tend to have difficulties understanding the minds of others, but for different reasons than children [...]

October 17th, 2016|

48,XXYY, 48,XXXY and 49,XXXXY Syndromes: Not Just Variants of Klinefelter Syndrome

Tartaglia, Ayari, Howell, D'Epagnier, Zeitler ePublished: April 9, 2011 ABSTRACT Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features. [...]

October 17th, 2016|

Brain and behavior in 48, XXYY syndrome

ePublished: April 15, 2015 Alli P. Hanley, Jonathan D. Blumenthal, Nancy Raitano Lee, Eva H. Baker, Liv S. Clasen, Jay N. Gied ABSTRACT The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. To discern the neuroanatomical phenotype of the syndrome, we conducted quantitative and qualitative analyses [...]

October 16th, 2016|

A New Look at XXYY Syndrome: Medical and Psychological Features

Read this scholarly article about the medical and psychological features of XXYY Syndrome.

October 14th, 2016|

Tremor in 48,XXYY Syndrome

Read the scholarly article regarding tremor in individuals with 48,XXYY Syndrome.

October 14th, 2016|