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Books on the topic 'Trisomía 21'

Author: Grafiati

Published: 4 June 2021

Last updated: 27 April 2022

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1

Cricri. Versailles: Feryane, 2005.

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2

Trisomie 21: Aides et conseils. Paris: Masson, 1992.

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3

Collins, Margaret Sutherland Ross. Towards targeted nutritional intervention in Cri du Chat syndrome(s) (5p-) Down's syndrome (Trisomy 21) and Autistic Spectrum disorders. [S.l: The author], 2000.

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4

1944-, Patterson David, and Epstein Charles J, eds. Molecular genetics of chromosome 21 and Down syndrome: Proceedings of the Sixth Annual National Down Syndrome Society Symposium, held in New York, NY, December 7-8, 1989. New York: Wiley-Liss, 1990.

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5

Helping children with Down syndrome communicate better: Speech and language skills for ages 6 - 14. Bethesda, MD: Woodbine House, 2008.

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6

J, Epstein Charles, and National Down Syndrome Society (U.S.), eds. Etiology and pathogenesis of Down syndrome: Proceedings of the International Down Syndrome Research Conference. New York: Wiley-Liss, 1995.

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7

J, Epstein Charles, Nadel Lynn, and National Down Syndrome Society (U.S.), eds. Down syndrome and Alzheimer disease: Proceedings of the National Down Syndrome Society Conference on Down Syndrome and Alzheimer Disease, held in New York, January 16 and 17, 1992. New York: Wiley-Liss, 1992.

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8

E, McCoy Ernest, and Epstein Charles J, eds. Oncology and immunology of Down Syndrome: Proceedings of the National Down Syndrome Society Symposium held in New York, December 4 and 5, 1986. New York: Liss, 1987.

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9

La trisomie 21. Mardaga, 2010. http://dx.doi.org/10.14375/np.9782804700423.

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10

International Symposium on Trisomy 21 (1989 : Rome, Italy), ed. Trisomy 21 (Down syndrome). New York: Wiley-Liss, 1990.

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11

Trisomie 21, communication et insertion. Elsevier, 2008. http://dx.doi.org/10.1016/b978-2-294-70376-8.x5000-7.

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12

Le futur de la trisomie 21. Mardaga, 2019. http://dx.doi.org/10.14375/np.9782804707354.

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13

Le futur de la trisomie 21. Mardaga, 2019. http://dx.doi.org/10.14375/np.9782804707354.

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14

Cuilleret. Trisomie 21 : Aides et conseils, 4e édition. Masson, 2003.

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15

Céleste, Bernadette, and Benoît Lauras. Le jeune enfant porteur de trisomie 21. Nathan Université, 2001.

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16

Vaginay, Denis. Trisomie 21 : Transmission et intégration : Pour quelle éthique ? Chronique sociale, 2000.

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17

McKinlay Gardner, R. J., and David J. Amor. Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0013.

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This chapter reviews the archetypical chromosome disorder, namely Down syndrome (DS; trisomy 21), and the various different chromosomal forms that may be the basis of it: standard trisomy 21, translocation trisomy, both de novo and inherited, and other rare forms. The concept of dosage imbalance as the basis of the pathogenesis is reviewed, and the “DS critical region” on chromosome 21 is examined. Reproductive risks associated with each of these DS types are discussed. The chapter considers the other full autosomal trisomies, T13 and T18, and also (mosaic) T9. Triploidy, as the basis of hydatidiform mole, is reviewed. Also reviewed are the influence of parental, mostly maternal, age, in the genesis of these aneuploidies, and the effect of secular change on these observations. Tables provide precise age-related risk figures for recurrence risk of T21 and more general figures for other trisomies.

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18

Trisomy 21 and Other Fetal Aneuploidies [Working Title]. IntechOpen, 2020. http://dx.doi.org/10.5772/intechopen.78172.

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19

Firth, Helen V., and Jane A. Hurst. Chromosomes. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199557509.003.0005.

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This chapter lists a range of chromosomal disorders: the 22q11 deletion syndrome, Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), ring chromosomes, sex chromosome mosaicism, triploidy, Turner syndrome, and others. For each of the syndromes, special focus is given to the main clinical features. The chapter goes on to outline the main clinical features and management, as well as listing the support groups.

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20

Capone, George T. Down Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0056.

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People with Down syndrome (trisomy 21) are distinguished by having an extra copy of chromosome 21. Chromosome 21 contains an estimated 562 genes, including 161 known to code for functional proteins, and at least 396 considered novel. Gene dosage imbalance is the primary mechanism, which results in the molecular, cellular, histological, and anatomical features characteristic of the condition. Throughout brain development, major neurobiological events go awry, resulting in a differently organized brain and characteristic developmental delays noted during infancy and the preschool years. The consequences of gene dosage imbalance continue to have repercussions on neurobiological function throughout childhood and adult life.

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21

Firth, Helen V., Jane A. Hurst, and Judith G. Hall. Chromosomes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780192628961.003.0186.

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22q11 deletion syndrome49047,XXX 49447,XXY 49647,XYY 498Autosomal reciprocal translocations—background 500Autosomal reciprocal translocations—familial 504Autosomal reciprocal translocations—postnatal 506Autosomal reciprocal translocations—prenatal 508Cell division—mitosis, meiosis, and non-disjunction 510Chromosomal mosaicism—postnatal 514Chromosomal mosaicism—prenatal 516Deletions and duplications 520Down syndrome (trisomy 21) ...

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22

Trisomy 21: What we can learn from people with Down syndrome. Vandenhoeck and Ruprecht, 2016.

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23

Lin, Erica P., and James P. Spaeth. Down Syndrome. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199764495.003.0062.

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Trisomy 21, or Down syndrome, is the most common human chromosomal syndrome, with an overall incidence of 1:700 live births. Because of its association with other congenital anomalies, children with this syndrome often present for surgical procedures that require general anesthesia. Anesthesiologists caring for these patients must be familiar with the implications of Down syndrome on perioperative care.

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24

Kotagal, Suresh, and Julie M. Baughn. Childhood sleep–wake disorders. Edited by Sudhansu Chokroverty, Luigi Ferini-Strambi, and Christopher Kennard. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199682003.003.0049.

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This chapter highlights the development of normal sleep from infancy to childhood. It illustrates the ways in which this development impacts common sleep disorders such as sleep disordered breathing, insomnia, restless legs syndrome (Willis–Ekbom disease), narcolepsy, parasomnias, and circadian rhythm abnormalities. The considerations needed for diagnosis of these disorders in children are discussed, including the key features of a pediatric sleep history. The chapter also focuses on sleep in special populations, including trisomy 21 (Down syndrome), autism spectrum disorder, Angelman syndrome, Prader–Willi syndrome, and achondroplasia, and on the considerations needed for each population. This chapter is designed for the sleep physician with an interest in treating children.

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25

Choi, Ellen Y. Tonsillectomy and Adenoidectomy in the Pediatric Patient with Down Syndrome. Edited by Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi, and Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0019.

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Down syndrome or Trisomy 21 is the most common chromosomal abnormality, affecting some 250,000 individuals, with life expectancy reaching into the fifth decade of life for some. It has characteristic physical features, with associated congenital conditions affecting almost every organ system. While all abnormalities must be taken into account during the preoperative evaluation, conditions of particular significance to the anesthesia provider include obstructive sleep apnea, congenital heart disease, and atlantoaxial instability. This chapter presents for discussion a case of a pediatric patient with Down syndrome undergoing adenotonsillectomy. Additional topics covered include attenuation of the risk of airway fire and management of post-tonsillectomy hemorrhage.

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26

Gordon, Lisa Faith. Torah and Trisomy-21: Culture and meaning in the daily life activities of a Jewish woman with Down's Syndrome. 1986.

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27

Association Syndrome de Down de la région de la Capitale nationale., ed. Enseigner aux enfants atteints de la trisomie 21: Guide de stratégies à l'intention des enseignantes et des enseignants des écoles élémentaires/primaires. Vanier, Ont: Centre franco-ontarien de ressources pédagogiques, 1998.

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28

Roman, Eve, Alexandra Smith, and Lorelei Mucci. Leukemias. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0028.

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Leukemias are a diverse group of acute and chronic haematological malignancies, that account for 2% to 3% of cancers globally. Recent advances in molecular biology and therapy have transformed the landscape for several leukemia subtypes changing some, but by no means all, from rapidly fatal diseases to treatable conditions with a good prognosis. In general, however, this progress has not been matched by new aetiological insights. Albeit accounting for a relatively small proportion, genetic predisposition syndromes such as neurofibromatosis, Li-Fraumeni and Trisomy 21, have the biggest impact in children and young adults. At older ages, established chemical, physical and biological risk factors, which explain only a small proportion of the total disease burden, include chemotherapy for a preceding cancer, ionizing radiation, and the viral infections human T-cell lymphotropic virus type 1 (HTLV-1) which causes the rare adult T-cell leukemia/lymphoma (ATLL) and the human immunodeficiency virus (HIV) which is associated with an increased risk of acute lymphoid leukaemias. Workplace exposures to potential carcinogens such as benzene, butadiene, and styrene have also been linked to increased risk of leukemia.

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