Wenn Studien lesen neu für Sie ist, schauen Sie sich bitte dieses kurze Video von MailabX an, um die Studien einzuordnen. Gerade viele der älteren Studien haben oft als Basis entweder sehr wenig Mädchen oder Mädchen, die bereits auffällig waren und deswegen ausgewählt wurden (selection bias). Sie liefern interessante Informationen, sind aber in der Regel nicht 1:1 auf den Alltag zu Hause oder in der Schule anwendbar und mit Vorsicht zu lesen.
Publikationen – überwiegend auf Englisch, einige mit 🇩🇪 deutscher Übersetzung
Allgemeines
- Talia Thompson, Jessica Tisher, Shanlee Davis, Christina Miller, Jillian Kirk, Nicole Tartaglia, Susan Howell, The emotional journey of adapting to prenatally identified trisomy X, (2023), Journal of Genetic Counseling, 00, 1–12. https://doi.org/10.1002/jgc4.1778, (DOI: 10.1002/jgc4.1778) – 🇩🇪 Deutsche Übersetzung
- Maarten Otter, Bea Campforts, Connie T.R.M. Stumpel, Thérèse Van Amelsvoort, Marjan Drukker, Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factor, (2022), European Psychiatry, 66(1), E7. doi:10.1192/j.eurpsy.2022.2355. – 🇩🇪 Deutsche Übersetzung
- Kimberly C. Kuipera, Hanna Swaab, Nicole Tartaglia, Lisa Cordeiro, Sophie van Rijn, Emotional reactivity and expressivity in young children with sex chromosome trisomies: evidence from psychophysiological and observational data, Child Neuropsychology, DOI: 10.1080/09297049.2022.2102161 – 🇩🇪 Deutsche Übersetzung
- Maarten Otter, Bea Campforts, Connie T.R.M. Stumpel, Thérèse Van Amelsvoort, Claudia Vingerhoets, Marjan Drukker, Neuropsychological Findings in Adults with Triple X Syndrome, Preprints 2022, 2022060108 (doi: 10.20944/preprints202206.0108.v1). – 🇩🇪 Deutsche Übersetzung
- Kimberly Kuiper, Hanna Swaab, Nicole Tartaglia, Sophie van Rijn, Early developmental impact of sex chromosome trisomies on attention deficit-hyperactivity disorder symptomology in young children, American Journal of Medical Genetics Part A, 185A: 3664–3674. – 🇩🇪 Deutsche Übersetzung
- Agnethe Berglund, Kirstine Stochholm, Claus Højbjerg Gravholt, The comorbidity landscape of 47, XXX syndrome: A nationwide epidemiologic study, Genetics in Medicine Journal, Published November 30, 2021, DOI: https://doi.org/10.1016/j.gim.2021.10.012
- Claus H. Gravholt, Nicole Tartaglia, Christine Disteche, Sex chromosome aneuploidies in 2020-The state of care and research in the world, Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):197-201. doi: 10.1002/ajmg.c.31808. Epub 2020 Jun 4.
- Agnethe Berglund, Kirstine Stochholm, Claus Højbjerg Gravholt, The epidemiology of sex chromosome abnormalities, Am J Med Genet Part C. 2020;1–14. – 🇩🇪 Deutsche Übersetzung
- Nicole R. Tartaglia, Susan Howell, Shanlee Davis et al., 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, Am J Med Genet Part C. 2020;1–16. – 🇩🇪 Deutsche Übersetzung
- Rebecca Wilson et al., Vortrag über Trisomie X auf axys-Familientreffen, 2017 – 🇩🇪 Deutsche Übersetzung
- Kristen Wigby et al.,Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis, Am J Med Genet A. 2016 Nov; 170(11): 2870–2881.
- Kirstine Stochholm, Svend Juul, Claus H. Gravholt, Poor socio-economic status in 47,XXX – An unexpected effect of an extra X chromosome, European Journal of Medical Genetics (2013). – 🇩🇪 Deutsche Übersetzung
- Nicole R. Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson and Lennie Wilson, A review of trisomy X (47,XXX), Orphanet Journal of Rare Diseases 2010, 5:8
- M. Otter et al, Triple X syndrome: a review of the literature, European Journal of Human Genetics (2010) 18,265– 271
- Kristin M. May et al., The parental origin of the extra X chromosome in 47, XXX females, Am. J. Hum. Genet. 46:754-761, 1990
- M. G. Linden, B. G. Bender, R. J. Harmon, D. A. Mrazek, A. Robinson, 47,XXX: what is the prognosis?, Pediatrics 1988 Feb;83(2):239
- L. R. Krone, L. L. Prichard, C. L. Bradshaw, et al, Antenatal Diagnosis of an XXX Female – A Dilemma for Genetic Counseling, West I Med 123:17-21, Jul 1975
Sprache und Kommunikation
- Puck Christine van Elst,Maarten Otter,Frank Wijnen & Caroline Junge, Evaluating the Scope of Language Impairments in a Patient with Triple X Syndrome: A Brief Report, 23:6, 402-406, DOI: 10.1080/17518423.2020.1764652, 2020
- Evelien Urbanus, Hanna Swaab, Nicole Tartaglia, Lisa Cordeiro, and Sophie van Rijn, The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY), Am J Med Genet C Semin Med Genet. 2020 Jun; 184(2): 444–455
- Laura Zampini et al., Vocal and gestural productions of 24-month-old children with sex chromosome trisomies, Int. J. Lang Commun Disord, January- Feburary 2018, Vol. 53, No. 1, 171–181
- Sophie van Rijn, Hanna Swaab, Executive dysfunction and the relation with behavioral problems in children with 47, XXY and 47, XXX, Genes, Brain and Behavior (2015) 14: 200–208
- Nancy Raitano Lee et al., Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: Implications for idiopathic language impairment and autism spectrum disorders, J Child Psychol Psychiatry. 2012 Oct; 53(10): 1072–1081.
- Dorothy V M Bishop et al., Autism, language and communication in children with sex chromosome trisomies, Arch Dis Child. 2011 Oct; 96(10): 954–959.
Gehirnentwicklung und Psychologie
- Maarten Otter, Peter M. L. Crins, Bea C. M. Campforts, Constance T. R. M. Stumpel, Thérèse A. M. J. van Amelsvoort and Claudia Vingerhoets, Social functioning and emotion recognition in adults with triple X syndrome, Cambridge University Press on behalf of the Royal College of Psychiatrists, 2021. – 🇩🇪 Deutsche Übersetzung
- Armin Raznahan & Christine M. Disteche, X-chromosome regulation and sex differences in brain anatomy, 2020
- Alyssa Warling et al., Sex chromosome aneuploidy alters the relationship between neuroanatomy cognition, 2020
- Kristen Wigby et al., Behavioral and psychological features in girls and women with triple-x-syndrome, 2019
- Evelien Urbanus, Sophie van Rijn, Hanna Swaab, A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention, Clinical Genetics 2019
- Sophie van Rijn, A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47, XXY, 47 XXX, 47, XYY), 2019
- Alexander C. Wilson, Judith King, Dorothy V.M. Bishop, Autism and social anxiety in children with sex chromosome trisomies: an observational study, Welcome Open Research, 2019
- Tamar Green et al., Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies, 2018
- Ajay Nadig et al., Carriage of Supernumerary Sex Chromosomes Decreases the Volume and Alters the Shape of Limbic Structures, 2018
- Stefano Stagi et al., Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis, 2016
- Rhoshel K. Lenroot, Jonathan D. Blumenthal, Gregory L. Wallace, Liv S. Clasen, Nancy Raitano Lee, and Jay N. Giedd, A case-control study of brain structure and behavioral characteristics in 47,XXX Syndrome, Genes Brain Behav. 2014.
- Sophie van Rijn, PhD, Cognitive and behavioral development of children with 47,XXX: first results of the TRIXY study, 2014 – (corresponding video)
- Sophie van Rijn et al., Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder, 2014
- Nicole R. Tartaglia et al., Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY, 2012
- Victoria Leggett et al., Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review, 2010
- Anil J. Patwardhan et al., Reduced size of the amygdala in individuals with 47, XXY and 47, XXX karyotypes, 2001
Fruchtbarkeit
- Singhal P., Singh S., Kumar P., Naredi N., Premature Ovarian Failure Related to Trisomy X: Two Case Reports with an Aberrant 47, XXX Karyotype, Journal of Human Reproductive Sciences, 2021.
- Shanlee M Davis, Katelyn Soares, Susan Howell, Melanie Cree-Green, Eliza Buyers, Joshua Johnson, Nicole R Tartaglia, Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome, Reproductive Science, 2020.
- Munazzah Rafique, Solaiman AlObaid, Dania Al‐Jaroudi, 47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovaries, Clin Case Rep. 2019;7:1238–1241.
- C L O’Connor et al., Trisomy-X with estrous cycle anomalies in two female dogs, Theriogenology. 2011 Jul 15; 76(2): 374–380.
Sonstiges
- Hannah Acevedo, LEP, ABSNP, BCBA, Positive Behavior Supports for Home and School, 2019 (at the 2019 AXYS Family Conference, Atlanta, Georgia) – 🇩🇪 Deutsche Übersetzung
- Armin Raznahan et al., Sex-chromosome dosage effects on gene expression in humans, 2018
- Zero to Three, Brain Wonders: Nurturing Healthy Brain Development from Birth, 2016
- Nicole Tartaglia, Susan Howell, Rebecca Wilson, Jennifer Janus, Richard Boada, Sydney Martin, Jacqueline B Frazier, Michelle Pfeiffer, Karen Regan, Sarah McSwegin, Philip Zeitler, The eXtraordinarY Kids clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy, Journal of Multidisciplinary Healthcare, 2015. – 🇩🇪 Deutsche Übersetzung
- Patricia A. Jacobs, An Opportune Life: 50 Years in Human Cytogenetics, 2014
- Forabosco et al., Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses, 2009
- NLJ Ross et al., Methylation of two Homo sapiens-specific X-Y homolgues genes in Klinesfelter’s syndrome (XXY), 2006
- Interview mit Patricia Jacobs – geführt von Peter S. Harper, 2004
- Keith L. Moore, Sex Determination, Sexual Differentiation and Intersex Development, 1967
- Murray L. Barr, The Sex Chromosomes in Evolution and in Medicine, 1966
- David H. Carr, Chromosomal Abnormalities and Their Relation to Disease, 1963
More publications can be found here.