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47,XYY

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Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism

Article Title: Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism

Authors: Berry, Finucane, Myers, Abril, Kirchner, Ledbetter, Martin, and Oetjens

Date of Publication: January 17, 2023

“Adults with supernumerary sex chromosome aneuploidies compared with 2 sex chromosomes had a small but statistically significant increased risk of VTE. Further research is needed to understand the clinical implications of this association.”

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2023-05-23T14:23:18-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

Article Title: Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

Authors: Jodarski, Duncan, Torres, Gore, Raznahan, and Similuk

Date of Publication: January 7, 2023

“XYY syndrome is a diagnosis that has significant implications on not only the affected individual, but the family as well. It is therefore imperative that HCPs fully understand the range of lived experiences with XYY so that we can better counsel and care for affected individuals and their families.”

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2023-04-13T11:03:45-04:00Categories: 47,XYY|Tags: , , |

Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome

Article Title: Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome

Authors: Raznahan, Rau, Schaffer, Liu, Fish, Mankiw, Xenophontos, Clasen, Joseph, Thurm, Blumenthal, Bassett, and Torres

Date of Publication: February 20, 2023

“Across the full XYY group, we find a complex correlation between psychopathology and functioning such that the most severely impacted symptom domains are not necessarily those most predictive of adaptive functioning or caregiver strain. Finally, network modelling suggests 8 main axes of psychopathology in XYY syndrome, with core roles for overall symptom scores, inattention, and social difficulties.”

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Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

Article Title: Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

Authors: Sánchez, Montalbano, Vaez, Krebs, Byberg-Grauholm, Mortensen, Børglum, Hougaard, Nordentoft, Geschwind, Buil, Schork, Thompson, Raznahan, Helenius, Werge, and Ingason

Date of Publication: February 2023

“Increased risks of psychiatric disorders associated with sex chromosome aneuploidies, combined with low rates of clinical diagnosis of sex chromosome aneuploidies, compromise the adequate provision of necessary health care and counselling to affected individuals and their families, which might be helped by increased application of genetic testing in clinical settings.”

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Variegation of autism related traits across seven neurogenetic disorders

Article Title: Variegation of autism related traits across seven neurogenetic disorders

Authors: Lee, Niu, Zhang, Clasen, Kozel, Smith, Wallace, and Raznahan

Date of Publication: April 7, 2022

“Gene dosage disorders (GDDs) constitute a major class of genetic risks for psychopathology, but there is considerable debate regarding the extent to which different GDDs induce different psychopathology profiles. The current research speaks to this debate by compiling and analyzing dimensional measures of several autism-related traits (ARTs) across seven diverse GDDs.”

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Patterns of psychopathology and cognition in sex chromosome aneuploidy

Article Title: Patterns of psychopathology and cognition in sex chromosome aneuploidy

Authors: Rau, Whitman, Schauder, Gogate, Lee, Kenworthy, and Raznahan

Date of Publication: December 15, 2021

“There is domain-specific variation in psychopathology across SCA groups and domain-specific correlation between psychopathology and IQ within SCAs. These findings (i) help to tailor clinical assessment of this common and impactful family of genetic disorders and (ii) suggest that dosage abnormalities of X- and Y-linked genes impart somewhat distinct profiles of neuropsychiatric risk.”

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Recommendations to improve the patient experience and avoid bias when prenatal screening/testing

Article Title: Recommendations to improve the patient experience and avoid bias when prenatal screening/testing

Authors: Meredith, Brackett, Diaz, Freeman, Huggins, Khan, Leach, Levitz, Michie, Onufer, Skotko, Smith, White, Waller, and Ayers

Date of Publication: October 29, 2022

“While prenatal screening and testing have expanded substantially over the past decade and provide access to more genetic information, expectant parents are more likely to describe the diagnosis experience as negative than positive. In addition, the conversations that take place during these experiences sometimes reflect unconscious bias against people with disabilities. Consequently, an interdisciplinary committee of experts, including people with disabilities, family members, disability organization leaders, healthcare and genetics professionals, and bioethicists, reviewed selected published and gray literature comparing the current state of the administration of prenatal testing to the ideal state. Subsequently, the interdisciplinary team created recommendations for clinicians, public health agencies, medical organizations, federal agencies, and other stakeholders involved with administering prenatal screening and testing to create better patient experiences; conduct training for healthcare professionals; create, enforce, and fund policies and guidelines; and engage in more robust data collection and research efforts.”

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Supernumerary sex chromosome abnormalities – new developments and future trajectories

Article Title: Supernumerary sex chromosome abnormalities – new developments and future trajectories – A summary of the 2022 3rd International Workshop on Klinefelter syndrome, XYY and Trisomy X

Authors: Gravholt, Ferlin, Gromoll, Juul, Raznahan, Van Rijn, Rogol, Skakkebæk, Tartaglia, and Swaab

Date of Publication: January 4, 2023

“The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12-14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We focus on shortcomings in knowledge and therefore point out future areas for research.”

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Early impact of X- and Y-chromosome variations on social communication and social emotional development in 1–2-year-old children

Article Title: Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2-year-old children

Authors: Bouw, Swaab, Tartaglia, Jansen, and Van Rijn

Date of Publication: February 18, 2022

“These findings suggest that SCT [sex chromosome trisomies] impact the maturation of the social brain already from an early age, and stress the importance of early monitoring and (preventive) support early social development in young children with SCT.”

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2022-12-02T13:45:58-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: |

Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Article Title: Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Authors: Guo, Cai, Lin, Xue, Huang, and Xu

Date of Publication: August 12, 2022

A clinic had 47,855 patients undergo NIPT (noninvasive prenatal testing). They found that the positive predictive value (PPV) for sex chromosome abnormalities was 36.9%. The PPV in patients aged 30–34 years was significantly higher than that in patients aged < 30 years.

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