Effects of sex chromosome aneuploidies on brain development: evidence from neuroimaging studies.
- Authors
- Lenroot, Rhoshel K; Lee, Nancy Raitano; Giedd, Jay N
- Year
- 2009
- Journal
- Developmental disabilities research reviews
- PMID
- 20014372
- DOI
- 10.1002/ddrr.86
- PMCID
- PMC2996824
Variation in the number of sex chromosomes is a relatively common genetic condition, affecting as many as 1/400 individuals. The sex chromosome aneuploidies (SCAs) are associated with characteristic behavioral and cognitive phenotypes, although the degree to which specific individuals are affected can fall within a wide range. Understanding the effects of different dosages of sex chromosome genes on brain development may help to understand the basis for functional differences in affected individuals. It may also be informative regarding how sex chromosomes contribute to typical sexual differentiation. Studies of 47,XXY males make up the bulk of the current literature of neuroimaging studies in individuals with supernumerary sex chromosomes, with a few small studies or case reports of the other SCAs. Findings in 47,XXY males typically include decreased gray and white matter volumes, with most pronounced effects in the frontal and temporal lobes. Functional studies have shown evidence of decreased lateralization. Although the hypogonadism typically found in 47,XXY males may contribute to the decreased brain volume, the observation that 47,XXX females also show decreased brain volume in the presence of normal pubertal maturation suggests a possible direct dosage effect of X chromosome genes. Additional X chromosomes, such as in 49,XXXXY males, are associated with more markedly decreased brain volume and increased incidence of white matter hyperintensities. The limited data regarding effects of having two Y chromosomes (47,XYY) do not find significant differences in brain volume, although there are some reports of increased head size.
No figures extracted from this document.
No entities extracted from this document yet.
No uploaded files.
In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Reward processing deficits and impulsivity in high-risk offspring of alcoholics: A study of event-related potentials during a monetary gambling task. | 2015 | 26388585 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years. | Olaya M et al. | — | 2025 | → |
| Cortical differences across psychiatric disorders and associated common and rare genetic variants | Kumar K et al. | — | 2025 | — |
| Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review. | Legue M et al. | — | 2025 | → |
| X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height. | Berry ASF et al. | — | 2025 | → |
| 49,XXXXY PATIENT AND INCIDENTAL FINDING OF LOW LEVEL MOSAIC 45,X IN THE MOTHER. | Mestre VF et al. | — | 2024 | → |
| Sex chromosomes and hormones independently influence healthy brain development but act similarly after cranial radiation. | Yeung J et al. | — | 2024 | → |
| Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review. | Ricciardi G et al. | — | 2022 | → |
| Autism Spectrum Disorder Genetics and the Search for Pathological Mechanisms. | Manoli DS et al. | — | 2021 | → |
| Chromosome Abnormalities Related to Reproductive and Sexual Development Disorders: A 5-Year Retrospective Study. | Benchikh S et al. | — | 2021 | → |
| Disorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY Mosaicism in Gonad Tissues. | Yang Y et al. | — | 2021 | → |
| A new sex-specific underlying mechanism for female schizophrenia: accelerated skewed X chromosome inactivation. | Zhang X et al. | — | 2020 | → |
| Emotion regulation in adults with Klinefelter syndrome (47,XXY): Neurocognitive underpinnings and associations with mental health problems. | van Rijn S et al. | — | 2020 | → |
| Rare sex chromosome variation 48,XXYY: An integrative review. | Blumling AA et al. | — | 2020 | → |
| Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies. | Green T et al. | — | 2019 | → |
| Gene regulatory mechanisms underlying sex differences in brain development and psychiatric disease. | Manoli DS et al. | — | 2018 | → |
| Impact of DNA repair and stability defects on cortical development. | Bianchi FT et al. | — | 2018 | → |
| Klinefelter Syndrome. The Effects of Early Androgen Therapy on Competence and Behavioral Phenotype. | Flannigan R et al. | — | 2018 | → |
| Sex chromosome aneuploidies. | Skuse D et al. | — | 2018 | → |
| Connecting the Dots between Schizotypal Symptoms and Social Anxiety in Youth with an Extra X Chromosome: A Mediating Role for Catastrophizing. | Miers AC et al. | — | 2017 | → |
| Mapping the effect of the X chromosome on the human brain: Neuroimaging evidence from Turner syndrome. | Zhao C et al. | — | 2017 | → |
| Neural systems for social cognition: gray matter volume abnormalities in boys at high genetic risk of autism symptoms, and a comparison with idiopathic autism spectrum disorder. | Goddard MN et al. | — | 2016 | → |
| Brain and behavior in 48, XXYY syndrome. | Hanley AP et al. | — | 2015 | → |
| Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence? | Latrech H et al. | — | 2015 | → |
| Executive dysfunction and the relation with behavioral problems in children with 47,XXY and 47,XXX. | van Rijn S et al. | — | 2015 | → |
| Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. | Samango-Sprouse C et al. | — | 2015 | → |
| Reward processing deficits and impulsivity in high-risk offspring of alcoholics: A study of event-related potentials during a monetary gambling task. | Kamarajan C et al. | — | 2015 | → |
| Triangulating the sexually dimorphic brain through high-resolution neuroimaging of murine sex chromosome aneuploidies. | Raznahan A et al. | — | 2015 | → |
| Effects of sex chromosome dosage on corpus callosum morphology in supernumerary sex chromosome aneuploidies. | Wade BS et al. | — | 2014 | → |
| Sex differences in cortical thickness and their possible genetic and sex hormonal underpinnings. | Savic I et al. | — | 2014 | → |
| Structural and numerical changes of chromosome X in patients with esophageal atresia. | Brosens E et al. | — | 2014 | → |
| Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations. | Gropman A et al. | — | 2013 | → |
| Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age. | Samango-Sprouse CA et al. | — | 2013 | → |
| Posterior fossa malformations and sex chromosomes anomalies. Report of a case with XYY syndrome and overview of known associations. | Ulgiati F et al. | — | 2013 | → |
| Sex differences in the human brain and the impact of sex chromosomes and sex hormones. | Lentini E et al. | — | 2013 | → |
| Advances in research on the neurological and neuropsychiatric phenotype of Klinefelter syndrome. | Savic I | — | 2012 | → |
| Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome. | Tabarki B et al. | — | 2012 | → |
| Socio-economic factors affect mortality in 47,XYY syndrome-A comparison with the background population and Klinefelter syndrome. | Stochholm K et al. | — | 2012 | → |
| Triple x syndrome with short stature: case report and literature review. | Li M et al. | — | 2012 | → |
| Unusual brain changes in tetrasomy x chromosomal anomaly. | Mshelbwala M et al. | — | 2012 | → |
| Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibility. | van Rijn S et al. | — | 2012 | → |
| Chromosomal variants in klinefelter syndrome. | Frühmesser A et al. | — | 2011 | → |
| Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome. | Samango-Sprouse CA et al. | — | 2011 | → |
| Sex steroids and brain structure in pubertal boys and girls: a mini-review of neuroimaging studies. | Peper JS et al. | — | 2011 | → |
| Genetic and epigenetic underpinnings of sex differences in the brain and in neurological and psychiatric disease susceptibility. | Qureshi IA et al. | — | 2010 | → |
| Variable associations of Klinefelter syndrome in children. | Mazen I et al. | — | 2010 | → |