48,XXYY

/48,XXYY

Emory University Focuses on XXYY

July, 2018

One of the sex chromosome variations least understood is XXYY. While the prevalence is reported to be 1 in 18,000 to 1 in 40,000, these estimates are likely an inadequate representation of true prevalence owing to missed diagnosis and alternate diagnoses for developmental, learning and behavioral issues. While early diagnosis is improving due to pre-natal screening and pre-natal diagnosis, there remains an unaccounted number of boys and men who have this variation and may not be aware.

For families with children and adults affected by XXYY, daily challenges abound in the areas of physical health, learning, behavior and launch to adulthood. Due to lack of information informed by research, no guidelines currently exist to help guide health care providers, educators and social services for how to preserve and maintain best function and quality of life for boys, men with XXYY and their families.

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2018-07-26T14:54:53+00:00Categories: 48,XXYY|

Klinefelter Syndrome and Other Sex Chromosomal Aneuploidies

Article Title: Klinefelter syndrome and other sex chromosomal aneuploidies

Author: Jeannie Visootsak and John M. Graham Jr.

Date of Publication: October 24, 2006

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 they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH), and luteinizing hormone (LH). The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15–16 points, with language most affected, particularly expressive language skills.

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2018-09-06T12:19:54+00:00Categories: 47,XXY (Klinefelter), 48,XXYY, Other Variations|

ADHD Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY

Article title: Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY

Authors: Nicole R. Tartaglia, MD; Natalie Ayari, BA; Christa Hutaff-Lee, PhD; Richard Boada, PhD

Date of Publication: May 2012

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Please share this article with your healthcare providers and with other professionals (therapists, school support staff and administrators, etc.).

2018-07-14T14:23:58+00:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY|

Clinical research: Extra X impairs awareness of others’ minds

Article Title: Clinical research: Extra X impairs awareness of others’ minds

Author: Kate Yandell

Date of Publication: June 13, 2014

“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 with autism do, according to a study published 22 March in Genes, Brain and Behavior” (Sophie van Rijn et al).

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