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AXYS - The Association for X&Y Chromosome Variations
Helpline: 1‑267‑338‑4262 | info@genetic.org

47,XXX (trisomy x)

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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Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study

Article Title: Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance

Authors: Howell, Davis, Thompson, Brown, Tanda, Kowal, Alston, Ross, and Tartaglia

Date of Publication: September 6, 2022

“The majority (57%) of parents with a NIPS result positive for SCA defer diagnostic confirmation until birth; however, diagnostic results can be discordant with NIPS results, which may impact genetic counseling.”

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Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Article Title: Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Authors: Tang, Lin, Guo, Hou, and Yu

Date of Publication: April 22, 2019

FISH should be recommended to evaluate low proportion mosaicism in similar cases. Due to the risk of ovarian failure, fertility preservation for patients with 45,X/47,XXX mosaicism at a younger age must be considered.”

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2022-10-19T13:16:14-04:00Categories: 47,XXX (trisomy x), Mosaicism|Tags: , , |

Early symptoms of autism spectrum disorder in children with sex chromosome trisomies

Article Title: Early symptoms of autism spectrum disorder (ASD) in 1–8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention

Authors: Bouw, Swaab, Tartaglia, Wilson, van der Velde, and van Rijn

Date of Publication: September 15, 2022

“These findings show a neurodevelopmental impact of the extra X or Y chromosome on social adaptive development associated with risk for ASD already from early childhood onward. These findings advocate for close monitoring and early (preventive) support, aimed to optimize social development of young children with SCT.”

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The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study

Article Title: The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study

Authors: Berglund, Stochholm, and Gravholt

Date of Publication: November 30, 2021

“The 47,XXX syndrome is associated with an increased occurrence of a wide variety of diseases. Increased awareness of this may contribute to improve counseling and clinical assessment of these patients.”

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2022-09-09T13:50:22-04:00Categories: 47,XXX (trisomy x)|Tags: |

Emotional reactivity and expressivity in young children with sex chromosome trisomies

Article Title: Emotional reactivity and expressivity in young children with sex chromosome trisomies: evidence from psychophysiological and observational data

Authors: Kuiper, Swaab, Tartaglia, Cordeiro, and van Rijn

Date of Publication: July 25, 2022

“Although sex chromosomal trisomies (SCT) in children are highly prevalent and associated with an increased risk for neurodevelopmental difficulties including socio-emotional problems, little is known about underlying mechanisms that could drive this risk. Studying emotional reactivity and expressivity of young children with SCT in early childhood could identify deviations in early emotional development and potentially serve as risk markers to guide clinical care in developing interventions.”

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2022-12-08T11:47:14-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Supporting students with sex chromosome aneuploidies in educational settings

Article Title: Supporting students with sex chromosome aneuploidies in educational settings: Results of a nationwide survey

Authors: Thompson, Davis, Janusz, Frith, Pylead, Howell, Boada, Wilson, and Tartaglia

Date of Publication: August 2022

“Many parents reported their children’s educators had little to no knowledge of SCA conditions, justifying a need to train teachers and policy makers in the unique educational needs of children and adolescents with SCAs. School psychologists should be aware of the frequent need for accommodations and individualized support plans in this population so they can support children and families by advocating for early and comprehensive evaluations and intervention plans.”

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Early Social Behavior in Young Children with Sex Chromosome Trisomies (Trisomy X, XXY, XYY)

Article Title: Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD)

Authors: Bouw, Swaab, Tartaglia, Cordeiro, and van Rijn

Date of Publication: March 23, 2022

“Individuals with Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) have an increased vulnerability for developing challenges in social adaptive functioning. The present study investigates social interaction behavior in the context of varying social load, and Autism Spectrum Disorder (ASD) symptomatology in young children aged 1–7.5 years old, with SCT (N = 105) and control children (N = 101). Children with SCT show less interaction behaviors and more social withdrawal, as compared to their control peers, which were most evident in the high social load condition. Second, social impairments related to ASD are more prevalent, as compared to controls (27.1% at clinical level). These findings stress the importance of early monitoring and (preventive) support of early social development in young children with SCT.”

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