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Aneuploidy
Turner Syndrome
Turner Syndrome
Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Turner syndrome (TS)

            • Synonyms

              • Monosomy X (45,X)

            • Definitions

              • Female fetus, child, or adult with deficiency of all or part of 1 X chromosome

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Consider

                                • Image Interpretation Pearls

                                  Selected References

                                  1. Berglund A et al: The epidemiology of sex chromosome abnormalities. Am J Med Genet C Semin Med Genet. 184(2):202-15, 2020
                                  2. Bianchi DW: Turner syndrome: New insights from prenatal genomics and transcriptomics. Am J Med Genet C Semin Med Genet. ePub, 2019
                                  3. Fiot E et al: X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood. Eur J Endocrinol. 180(6):397-406, 2019
                                  4. Gravholt CH et al: Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 15(10):601-14, 2019
                                  5. Dotters-Katz SK et al: The effects of turner syndrome, 45,x on obstetric and neonatal outcomes: a retrospective cohort evaluation. Am J Perinatol. 33(12):1152-8, 2016
                                  6. Christiansen M et al: Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort. Prenat Diagn. 36(1):49-55, 2015
                                  7. Levitsky LL et al: Turner syndrome: update on biology and management across the life span. Curr Opin Endocrinol Diabetes Obes. 22(1):65-72, 2015
                                  8. Viuff MH et al: Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome. Hum Reprod. 30(10):2419-26, 2015
                                  9. Dugo N et al: Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre. J Prenat Med. 8(1-2):31-5, 2014
                                  10. Hooks J et al: Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction. Prenat Diagn. 34(5):496-9, 2014
                                  11. Kazerouni NN et al: Triple-marker prenatal screening program for chromosomal defects. Obstet Gynecol. 114(1):50-8, 2009
                                  12. Maiz N et al: Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol. 33(5):512-7, 2009
                                  13. Bekker MN et al: Jugular lymphatic maldevelopment in Turner syndrome and trisomy 21: different anomalies leading to nuchal edema. Reprod Sci. 15(3):295-304, 2008
                                  14. Papp C et al: Prenatal diagnosis of Turner syndrome: report on 69 cases. J Ultrasound Med. 25(6):711-7; quiz 718-20, 2006
                                  15. Hamamy HA et al: Parental decisions following the prenatal diagnosis of sex chromosome abnormalities. Eur J Obstet Gynecol Reprod Biol. 116(1):58-62, 2004
                                  16. Bronshtein M et al: A characteristic cluster of fetal sonographic markers that are predictive of fetal Turner syndrome in early pregnancy. Am J Obstet Gynecol. 188(4):1016-20, 2003
                                  17. Surerus E et al: Turner's syndrome in fetal life. Ultrasound Obstet Gynecol. 22(3):264-7, 2003
                                  18. Haak MC et al: Cardiac malformations in first-trimester fetuses with increased nuchal translucency: ultrasound diagnosis and postmortem morphology. Ultrasound Obstet Gynecol. 20(1):14-21, 2002
                                  19. Huang B et al: Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations. Prenat Diagn. 22(2):105-10, 2002
                                  20. Spencer K et al: Maternal serum free beta-hCG and PAPP-A in fetal sex chromosome defects in the first trimester. Prenat Diagn. 20(5):390-4, 2000
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Pathology

                                          • Clinical Issues

                                            TERMINOLOGY

                                            • Abbreviations

                                              • Turner syndrome (TS)

                                            • Synonyms

                                              • Monosomy X (45,X)

                                            • Definitions

                                              • Female fetus, child, or adult with deficiency of all or part of 1 X chromosome

                                            IMAGING

                                            • General Features

                                              • Ultrasonographic Findings

                                                • Imaging Recommendations

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              DIAGNOSTIC CHECKLIST

                                                              • Consider

                                                                • Image Interpretation Pearls

                                                                  Selected References

                                                                  1. Berglund A et al: The epidemiology of sex chromosome abnormalities. Am J Med Genet C Semin Med Genet. 184(2):202-15, 2020
                                                                  2. Bianchi DW: Turner syndrome: New insights from prenatal genomics and transcriptomics. Am J Med Genet C Semin Med Genet. ePub, 2019
                                                                  3. Fiot E et al: X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood. Eur J Endocrinol. 180(6):397-406, 2019
                                                                  4. Gravholt CH et al: Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 15(10):601-14, 2019
                                                                  5. Dotters-Katz SK et al: The effects of turner syndrome, 45,x on obstetric and neonatal outcomes: a retrospective cohort evaluation. Am J Perinatol. 33(12):1152-8, 2016
                                                                  6. Christiansen M et al: Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort. Prenat Diagn. 36(1):49-55, 2015
                                                                  7. Levitsky LL et al: Turner syndrome: update on biology and management across the life span. Curr Opin Endocrinol Diabetes Obes. 22(1):65-72, 2015
                                                                  8. Viuff MH et al: Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome. Hum Reprod. 30(10):2419-26, 2015
                                                                  9. Dugo N et al: Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre. J Prenat Med. 8(1-2):31-5, 2014
                                                                  10. Hooks J et al: Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction. Prenat Diagn. 34(5):496-9, 2014
                                                                  11. Kazerouni NN et al: Triple-marker prenatal screening program for chromosomal defects. Obstet Gynecol. 114(1):50-8, 2009
                                                                  12. Maiz N et al: Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol. 33(5):512-7, 2009
                                                                  13. Bekker MN et al: Jugular lymphatic maldevelopment in Turner syndrome and trisomy 21: different anomalies leading to nuchal edema. Reprod Sci. 15(3):295-304, 2008
                                                                  14. Papp C et al: Prenatal diagnosis of Turner syndrome: report on 69 cases. J Ultrasound Med. 25(6):711-7; quiz 718-20, 2006
                                                                  15. Hamamy HA et al: Parental decisions following the prenatal diagnosis of sex chromosome abnormalities. Eur J Obstet Gynecol Reprod Biol. 116(1):58-62, 2004
                                                                  16. Bronshtein M et al: A characteristic cluster of fetal sonographic markers that are predictive of fetal Turner syndrome in early pregnancy. Am J Obstet Gynecol. 188(4):1016-20, 2003
                                                                  17. Surerus E et al: Turner's syndrome in fetal life. Ultrasound Obstet Gynecol. 22(3):264-7, 2003
                                                                  18. Haak MC et al: Cardiac malformations in first-trimester fetuses with increased nuchal translucency: ultrasound diagnosis and postmortem morphology. Ultrasound Obstet Gynecol. 20(1):14-21, 2002
                                                                  19. Huang B et al: Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations. Prenat Diagn. 22(2):105-10, 2002
                                                                  20. Spencer K et al: Maternal serum free beta-hCG and PAPP-A in fetal sex chromosome defects in the first trimester. Prenat Diagn. 20(5):390-4, 2000