Helpline: 1‑267‑338‑4262 | helpline@genetic.org

Help Us to Fulfill Our Mission

Helpline: 1‑267‑338‑4262 | info@genetic.org

47,XXX (trisomy x)

Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome

Article Title: Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome

Authors: Davis, Soares, Howell, Cree-Green, Buyers, Johnson, and Tartaglia

Date of Publication: June 2020

“An extra X chromosome occurs in ~ 1 in 1000 females, resulting in a karyotype 47,XXX also known as trisomy X syndrome (TXS). Women with TXS appear to be at increased risk for premature ovarian insufficiency; however, very little research on this relationship has been conducted. The objective of this case-control study is to compare ovarian function, as measured by anti-mullerian hormone (AMH) levels, between girls with TXS and controls. Serum AMH concentrations were compared between 15 females with TXS (median age 13.4 years) and 26 controls (median age 15.1 years). Females with TXS had significantly lower serum AMH compared to controls (0.7 ng/mL (IQR 0.2–1.7) vs 2.7 (IQR 1.3–4.8), p < 0.001). Additionally, girls with TXS were much more likely to have an AMH below the 2.5th percentile for age with 67% of them meeting these criteria (OR 11, 95% CI 2.3–42). Lower AMH concentrations in females with TXS may represent an increased risk for primary ovarian insufficiency in these patients and potentially a narrow window of opportunity to pursue fertility preservation options. Additional research is needed to understand the natural history of low AMH concentrations and future risk of premature ovarian insufficiency in girls with TXS.”

Rick Frith2021-01-15T14:37:59-05:00Categories: 47,XXX (trisomy x)|

The epidemiology of sex chromosome abnormalities

Article Title: The epidemiology of sex chromosome abnormalities

Authors: Berglund, Stochholm, and Gravholt

Date of Publication: May 11, 2020

“Sex chromosome abnormalities (SCAs) are characterized by gain or loss of entire sex chromosomes or parts of sex chromosomes with the best-known syndromes being Turner syndrome, Klinefelter syndrome, 47,XXX syndrome, and 47,XYY syndrome. Since these syndromes were first described more than 60 years ago, several papers have reported on diseases and health related problems, neurocognitive deficits, and social challenges among affected persons. However, the generally increased comorbidity burden with specific comorbidity patterns within and across syndromes as well as early death of affected persons was not recognized until the last couple of decades, where population-based epidemiological studies were undertaken. Moreover, these epidemiological studies provided knowledge of an association between SCAs and a negatively reduced socioeconomic status in terms of education, income, retirement, cohabitation with a partner and parenthood. This review is on the aspects of epidemiology in Turner, Klinefelter, 47,XXX and 47,XYY syndrome.”

Rick Frith2020-06-16T17:22:47-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Early neurodevelopmental and medical profile in children with sex chromosome trisomies

Article Title: Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention

Authors: Tartaglia, Howell, Davis, Kowal, Tanda, Brown, Boada, Alston, Crawford, Thompson, Van Rijn, Wilson, Janusz, and Ross

Date of Publication: May 13, 2020

“This study aims to better describe and compare the natural history of SCT conditions, identify predictors of positive and negative outcomes in SCT, evaluate developmental and autism screening measures commonly used in primary care practices for the SCT population, and build a rich data set linked to a bank of biological samples for future study. Results from this study and ongoing international research efforts will inform evidence-based care and improve health and neurodevelopmental outcomes.”

Rick Frith2020-06-16T17:00:13-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Article Title: Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Authors: Green, Flash, and Reiss

Date of Publication: January 2019

“The study of individuals with sex chromosome aneuploidies provides a promising framework for studying sexual dimorphism in neurodevelopmental and psychiatric disorders. Here we will review and contrast four syndromes caused by variation in the number of sex chromosomes: Turner syndrome, Klinefelter syndrome, XYY syndrome, and XXX syndrome. Overall we describe an increased rate of attention deficit hyperactivity disorder and autism spectrum disorder, along with the increased rates of major depressive disorder and anxiety disorders in one or more of these conditions. In addition to contributing unique insights about sexual dimorphism in neuropsychiatric disorders, awareness of the increased risk of neurodevelopmental and psychiatric disorders in sex chromosome aneuploidies can inform appropriate management of these common genetic disorders.”

Rick Frith2020-05-25T15:21:05-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, Other Variations|Tags: Neuropsychiatry|

Changes in the cohort composition of TS, severe non-diagnosis of KS, 47,XXX and 47,XYY syndrome

Article Title: Changes in the cohort composition of Turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Authors: Claus H. Gravholt, MD, PhD et al

Date of Publication: January 14, 2019

“The prevalence of TS is higher than previously identified, and the karyotypic composition of the TS population is changing. Non-diagnosis is extensive among KS, Triple X and Double Y, whereas all TS seem to become diagnosed. The diagnostic activity has increased among TS with other karyotypes than 45,X as well as among KS and Double Y.”

Rick Frith2019-10-30T15:01:28-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, Other Variations|

Neurocognitive functioning and risk for psychopathology in sex chromosome trisomy

Article Title: A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47,XYY)

Authors: Sophie van Rijn, PhD

Date of Publication: March 2019

This paper reviews studies that illustrate an increased risk for social, emotional and behavioral problems in individuals with 47,XXY, 47,XXX, or 47,XYY. The primary focus of research in this area has been on language and learning problems; more recent research suggests that impairments in executive functioning, social cognition and emotion regulation may also be key factors underlying the risk for behavioral problems and mental disorders. Directions for future research are provided.

Rick Frith2019-10-10T15:53:37-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

Article Title: Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

Authors: S. van Rijn, L. Stockmann, G. van Buggenhout, C. van Ravenswaaij-Arts, and H. Swaab

Date of Publication: 2014

This 2014 paper by Dr. Sophie van Rijn is an excellent study on the Theory of Mind and “the reported social behavioral difficulties in individuals with an extra X chromosome include shyness, social withdrawal, social anxiety, social immaturity, difficulties in peer relationships, social impulsivity, communication difficulties, reduced social assertiveness and difficulties with ‘being sensitive and responsive to the feelings and rights of others.”

“Individuals with an extra X chromosome are at increased risk for autism symptoms. This study is the first to assess theory of mind and facial affect labeling in children with an extra X chromosome.”

Rick Frith2019-04-30T09:29:50-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 48,XXXY, 48,XXYY|

Vocal & Gestural Productions of 24-month-old Children with Sex Chromosome Trisomies

Article Title: Vocal and gestural productions of 24-month-old children with sex chromosome trisomies

Authors: Laura Zampini, Lara Draghi, Gaia Silibello, Francesca Dall’Ara, Claudia Rigamonti,Chiara Suttora, Paola Zanchi, Nicoletta Salerni, Faustina Lalatta, and Paola Vizziello

Date of Publication: January 2018

Rick Frith2018-04-25T21:20:27-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Trisomy X Panel and Q&A

Presentation slides from the 2017 AXYS Family Conference presentation:

Triple X Syndrome (PDF)

Presented by Rebecca Wilson, PsyD and others

Rick Frith2017-07-21T21:31:30-04:00Categories: 47,XXX (trisomy x)|Tags: 2017 Conference|

Guide to Trisomy X

Article Title: Guide to Trisomy X

Author: Kathleen Erskine

Date of Publication: 2011

Kathleen Erskine, a graduate student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College conducted a study to identify the important aspects of 47, XXX/ 3X/ Triple X/ Trisomy X to discuss with girls when they first learn about their Trisomy X diagnosis. The end result of this study is this educational booklet for parents to give their daughter when they first tell her about Trisomy X.

Rick Frith2018-09-04T12:38:16-04:00Categories: 47,XXX (trisomy x)|