Down Syndrome - Trisomy 21

Mirna Lechpammer; Marc Del Bigio; Rebecca Folkerth

doi:10.1017/9781316671863.043

Chapter 42 - Down Syndrome - Trisomy 21

from Genetic Syndromes and Phakomatoses

Published online by Cambridge University Press: 07 August 2021

Marc Del Bigio and

Mirna Lechpammer: Affiliation:
New York University School of Medicine
Marc Del Bigio: Affiliation:
University of Manitoba, Canada
Rebecca Folkerth: Affiliation:
New York University School of Medicine

Book contents

Get access

Summary

Down syndrome (DS) or trisomy 21 is a chromosomal disorder caused by the presence of an extra copy of chromosome 21 in some or all cells. This condition belongs to aneuploidies and manifests with intellectual disability, typical facial appearance, and multiple comorbid pathologies. The syndrome was fully described in 1866 by a British physician, John Langdon Down, while the genetic cause, i.e., trisomy 21, was discovered in 1959 [1]. Trisomy 21 is the most common chromosomal anomaly in humans, caused by nondisjunction of chromosome 21 in a parent who is chromosomally normal. The incidence of DS is 1 in 690–750 births, and the risk of DS occurrence increases with the parental age (reaching 1 in 270 for women age 35–39) [1, 2, 3]. However, the probability of having a second child with DS is greater for a young female carrying a balanced translocation than for a healthy middle-aged woman [1].

Information

Type: Chapter
Information: Perinatal Neuropathology , pp. 260 - 264

DOI: https://doi.org/10.1017/9781316671863.043 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2021

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Book purchase

Temporarily unavailable

References

Hickey, F, Hickey, E, Summar, KL. Medical update for children with Down syndrome for the pediatrician and family practitioner. Adv Pediatr. 2012;59(1):137–57.Google Scholar

Ergaz-Shaltiel, Z, Engel, O, Erlichman, I, Naveh, Y, Schimmel, MS, Tenenbaum, A. Neonatal characteristics and perinatal complications in neonates with Down syndrome. Am J Med Gene. 2017;173(5):1279–86.Google Scholar PubMed

ACOG Practice Bulletin No. 88. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110(6):1459–67.Google Scholar

Agarwal Gupta, N, Kabra, M. Diagnosis and management of Down syndrome. Indian J Pediatr. 2014;81(6):560–7.CrossRef Google Scholar PubMed

Ostermaier, KK. Down syndrome: Clinical features and diagnosis. UpToDate. 2018 Available from: www.uptodate.com/contents/down-syndrome-clinical-features-and-diagnosis.Google Scholar

Bull, MJ, Committee on genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393–406.Google Scholar

Myers, BA, Pueschel, SM. Psychiatric disorders in persons with Down syndrome. J Nerv Ment Dis. 1991;179(10):609–13.CrossRef Google Scholar PubMed

Kent, L, Evans, J, Paul, M, Sharp, M. Comorbidity of autistic spectrum disorders in children with Down syndrome. Dev Med Child Neurol. 1999;41(3):153–8.CrossRef Google Scholar PubMed

Lai, F, Williams, RS. A prospective study of Alzheimer disease in Down syndrome. Arch Neurol. 1989;46(8):849–53.CrossRef Google Scholar PubMed

Visser, FE, Aldenkamp, AP, van Huffelen, AC, Kuilman, M, Overweg, J, van Wijk, J. Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome. Am J Ment Retard. 1997;101(4):400–12.Google Scholar

Geggel, RL, O’Brien, JE, Feingold, M. Development of valve dysfunction in adolescents and young adults with Down syndrome and no known congenital heart disease. J Pediatr. 1993;122:821–3.Google Scholar

Hamada, T, Gejyo, F, Koshino, Y, Murata, T, Omori, M, Nishio, M, et al. Echocardiographic evaluation of cardiac valvular abnormalities in adults with Down’s syndrome. Tohoku J Exp Med. 1998;185(1):31–5.CrossRef Google Scholar PubMed

Bush, D, Galambos, C, Ivy, DD, Abman, SH, Wolter-Warmerdam, K, Hickey, F. Clinical characteristics and risk factors for developing pulmonary hypertension in children with Down syndrome. J Pediatr. 2018;202:212–19.Google Scholar

Thomas, K, Bourke, J, Girdler, S, Bebbington, A, Jacoby, P, Leonard, H. Variation over time in medical conditions and health service utilization of children with Down syndrome. J Pediatr. 2011;158(2):194–200.e1.CrossRef Google Scholar PubMed

McDowell, KM, Craven, DI. Pulmonary complications of Down syndrome during childhood. J Pediatr. 2011;158(2):319–25.Google Scholar

Roizen, NJ, Mets, MB, Blondis, TA. Ophthalmic disorders in children with Down syndrome. Dev Med Child Neurol. 1994;36(7):594–600.CrossRef Google Scholar PubMed

Tedeschi, AS, Roizen, NJ, Taylor, HG, Murray, G, Curtis, CA, Parikh, AS. The prevalence of congenital hearing loss in neonates with Down syndrome. J Pediatr. 2015;166(1):168–71.Google Scholar

Shott, SR, Joseph, A, Heithaus, D. Hearing loss in children with Down syndrome. Int J Pediatr Otorhinolaryngol. 2001;61(3):199–205.CrossRef Google Scholar PubMed

Tüysüz, B, Beker, DB. Thyroid dysfunction in children with Down’s syndrome. Acta Paediatr. 2001;90(12):1389–93.CrossRef Google Scholar PubMed

Van Goor, JC, Massa, GG, Hirasing, R. Increased incidence and prevalence of diabetes mellitus in Down’s syndrome. Arch Dis Child. 1997;77(2):186.Google Scholar

Fabia, J, Drolette, M. Malformations and leukemia in children with Down’s syndrome. Pediatrics. 1970;45(1):60–70.CrossRef Google Scholar PubMed

Mercer, ES, Broecker, B, Smith, EA, Kirsch, AJ, Scherz, HC, Massad C.Urological manifestations of Down syndrome. J Urol. 2004;171(3):1250–53.Google Scholar

Pinter, JD, Eliez, S, Schmitt, JE, Capone, GT, Reiss, AL. Neuroanatomy of Down’s syndrome: a high-resolution MRI study. Am J Psychiatry. 2001;158(10):1659–65.CrossRef Google Scholar PubMed

Fujii, Y, Aida, N, Niwa, T, Enokizono, M, Nozawa, K, Inoue, T. A small pons as a characteristic finding in Down syndrome: a quantitative MRI study. Brain Dev. 2017;39(4):298–305.CrossRef Google Scholar PubMed

Ieshima, A, Kisa, T, Yoshino, K, Takashima, S, Takeshita, K. A morphometric CT study of Down’s syndrome showing small posterior fossa and calcification of basal ganglia. Neuroradiology. 1984;26(6):493–8.Google Scholar

Blaser, S, Propst, EJ, Martin, D, Feigenbaum, A, James, AL, Shannon, P, et al. Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope. 2006;116(12):2113–19.Google Scholar

Hobson-Rohrer, WL, Samson-Fang, L. Down syndrome. Pediatr Rev. 2013;34(12):573–4.Google Scholar

Spencer, K, Souter, V, Tul, N, Snijders, R, Nicolaides, KH. A screening program for trisomy 21 at 10–14 weeks using fetal nuchal translucency, maternal serum free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A: First-trimester screening for Down’s syndrome. Ultrasound Obstet and Gynecol. 1999;13(4):231–7.Google Scholar

Wisniewski, KE. Down syndrome children often have brain with maturation delay, retardation of growth, and cortical dysgenesis. Am J Med Genet Suppl. 1990;7:274–81.Google Scholar PubMed

Wisniewski, KE, Schmidt-Sidor, B. Postnatal delay of myelin formation in brains from Down syndrome infants and children. Clin Neuropathol. 1989;8(2):55–62.Google Scholar

Yarom, R, Sagher, U, Havivi, Y, Peled, IJ, Wexler, MR. Myofibers in tongues of Down’s syndrome. J Neuro Sci. 1986;73(3):279–87.Google Scholar

Godridge, H, Reynolds, GP, Czudek, C, Calcutt, NA, Benton, M. Alzheimer-like neurotransmitter deficits in adult Down’s syndrome brain tissue. J Neurol Neurosurg Psychiatry. 1987;50(6):775–8.Google Scholar

Inagaki, T, Morita, N, Cureoglu, S, Schachern, PA, Nomiya, S, Nomiya, R, et al. Peripheral vestibular system in Down syndrome: quantitative assessment of vestibular histopathology. Otolaryngol Head Neck Surg. 2011;144(2):280–3.Google Scholar

Abbott, M-A, Benn, P. Prenatal genetic diagnosis of Down’s syndrome. Expert Rev Mol Diagn. 2002;2(6):605–15.Google Scholar

Presson, AP, Partyka, G, Jensen, KM, Devine, OJ, Rasmussen, SA, McCabe, LL, et al. Current estimate of Down syndrome population prevalence in the United States. Journal Pediatr. 2013;163(4):1163–8.Google Scholar

Accessibility standard: Unknown

Accessibility compliance for the PDF of this book is currently unknown and may be updated in the future.