Chromosomal abnormalities have a variable severity, which can range from lethality before birth to the need for permanent medical care. The objective of this work was to propose a strategy to the struggle against chromosomal abnormalities through Departments of cytogenetics from literature review. Several documents have been consulted on the activities of Departments (or Services) of cytogenetics in relation to health care, ethical, legal and social problems concerning chromosomal abnormalities. In addition there are teaching and international collaboration in the field of cytogenetics. The corresponding articles have been published in journals with editorial, reading and scientific committees. According to this literature review, Services of cytogenetics should emphasize appropriate technologies and affordable prices, which can reach a significant portion of the population. In these Services, genetic counseling respects the right to full information and possible solutions regarding chromosomal abnormalities. Prevention through community sensitization, screening of populations and the possibility of early diagnosis should be carried out. The teaching of cytogenetics is therefore the starting point from which programs to combat chromosomal abnormalities will be introduced. Departments of cytogenetics must be supported by regulatory structures constituted by the scientific, medical and non-professional communities. Research is an important component of medical cytogenetics as well as international collaboration. This work includes a set of coordinated actions whose implementation would deal with chromosomal abnormalities.
Published in | International Journal of Genetics and Genomics (Volume 10, Issue 2) |
DOI | 10.11648/j.ijgg.20221002.12 |
Page(s) | 48-52 |
Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
Copyright |
Copyright © The Author(s), 2022. Published by Science Publishing Group |
Struggle, Chromosomal Abnormalities, Departments of Cytogenetics, Populations
[1] | Balkan M., Akbas H., Oral D. and al. (2010): Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in southest Turkey. Genet Mol Res, 9: 1094-1103. |
[2] | Malan V., Romana S. (2015): Diagnostic des anomalies chromosomiques en pathologie constitutionnelle. EMC-Traité de Médecine Akos, 10 (1): 1-8. |
[3] | Gangbo F., Laleye A., Alao M. J., Adjagba M., Lawani P., Darboux R. (2010): Une décennie de pratique de caryotype au laboratoire de cytogénétique de la faculté des sciences de la santé de Cotonou au Bénin: bilan et perspectives d'avenir. JAMO, 4 (1): 24-30. |
[4] | Cereda A., Carey J. C. (2012): The trisomy 18 syndrome. Orphanet J. Rare Dis, 7, 81p. |
[5] | Kræs I., Jansens S., Defoort P. (2014): Ultrasound features in trisomy 13. Patau series of 47 cases. Facts views. Vis Ob Gyn, 6: 245-249. |
[6] | Chhih Y. (2016): Les aspects cytogénétiques chez les patients adressés au CHU Mohammed VI pour suspicion d’anomalies chromosomiques: Etude rétrospective à propos de 160 cas. [Thèse Médecine]. Marrakech: Université Cadi Ayyad, N°10, 84p. |
[7] | Dieth M. J. A. (2021): Intérêt de l’analyse du caryotype dans le diagnostic des anomalies cytogénétiques en C ôte d’Ivoire de 2014 à 2019. [Thèse Médecine]. Abidjan: UFR-Sci Méd Univ Félix Houphou ët-Boigny, N°6949: 120 p. |
[8] | Duarte A. C., Cunha E., Roth J. M., Ferreira F. I. and al. (2004): Cyotogenetics of genetic counseling patients in Pelotas, Rio Grande Do Sul Brazil. Genet Mol Res, 3: 303-8. |
[9] | Traoré M., Touré A., Keita M. M., Traoré M. S. (1997): Etude cytogénétique chez 13 enfants présentant une polymalformation à Bamako. Méd Afr Noire, 44 (10): 514- 516. |
[10] | Alao M. J., Sagbo G. G., Laleye A., Ayivi B. (2010): Aspects épidémiologiques, cliniques et cytogénétiques du Syndrome de Down au Service de pédiatrie et génétique médicale du Centre National Hospitalier de Cotonou, Bénin: à propos de 20 cas. Clinics in Mother and Child Health. (7): 1- 6. |
[11] | Amedimele K. D. (2015): Les anomalies chromosomiques dans les syndromes dysmorphiques et malformatifs. [Thèse Médecine], Université Cadi Ayyad, Marrakech, N° 52, 87p. |
[12] | Norme ISO 15189 (International Organization for Standardization). (2012): Medical Laboratories. Special requirements regarding quality and competence. Afnor 3th edit, Geneva, 52p. |
[13] | Jean-Pierre M., Jonveaux P., Lacombe D., Leporrier N., Lyonnet S. et Coll. (2004): Génétique médicale: Formelle, Chromosomique, Moléculaire, Clinique. Gén Méd. Edit Masson, Paris; 71- 132. |
[14] | Berisha S. Z., Shetty S., Prior T. W., Mitchell A. L. (2020): Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects. Birth Defects Res, 112 (4): 293-306. |
[15] | Larson D. P., Akkari Y. M., Van Dyke D. L., Raca G., Gardner J. A. and al. (2021): Conventional cytogenetic analysis of hematologic neoplasms: A 20-year review of proficiency test results from the College of American Pathologists. Arch Pathol Lab Med, 145 (2): 176-190. |
[16] | Lese M. C., Ledbetter D. H. (2017): Chromosomal Microarray Testing for children with unexplained neurodevelopmental disorders JAMA, 317 (24): 545-546. |
[17] | Veselinyová D., Mašlanková J., Kalinová K., Mičková H., Mareková M. and al (2021): Selected in situ hybridization methods: Principles and application. Molecules, 26 (13): 1- 17. |
[18] | Hochstenbach R., Van Binsbergen E., Engelan J. and al. (2009): Array analysis and karyotyping: workflow consequences based on a retrospective study of 36325 patients with idiopathic developmental delay in the Netherlands. Eur J Med Genet, 52 (4): 161-9. |
[19] | Keren B., Shluth-Bolard C., Egea G., Sanlaville D. (2010): New technologies for the human genome exploration. Archives de Pédiatrie, 17 (11): 1605-1608. |
[20] | Wang Y, Cottle W. T., Wang H., Feng X. A., Mallon J. and al. (2021): Genome oligopaint via local denaturation fluorescence in situ hybridization. Mol Cel, 81 (7): 66-77. |
[21] | Malan V. (2007): La CGH array: un bouleversement de la pratique hospitalière en cytogénétique. IRBM, 28 (5): 245-251. |
[22] | Stankiewiez P., Beaudet A. L. (2007): Use of Array CGH in the evaluation of dysmorphology, malformations, developmental delay and the idiopathic mental retardation. Curr Opin Genet Dev, 17 (3): 182-92. |
[23] | Young J. (2020): Prise en charge et conseil génétique des patients avec hypogonadismes hypogonadotrophiques congénitaux (HHC)/syndrome de Kallmann (SK) face aux modes de transmission mono- et oligogéniques. Ann Endocrinol, 81 (4), 139p. |
[24] | Biesecker B. B. (2018): Genetic counselors as social and behavioral scientists in the era of precision medicine. Am J Med Genet, 178 (1): 10-14. |
[25] | Amendola L. M., Golden-Grant K., Scollon S. (2021): Scaling Genetic counseling in the Genomics Era. Annu Rev Genomics Hum Genet, 22 (1): 339-355. |
[26] | Kassis M., Galacteros F., Ferec C., Delpch M. (2005): Place du conseil génétique en médecine fætale. Elsevier SAS, 4-002-T-10p. |
[27] | Chung W. K., Roberts T. P., Sherr E. H., Snyder L. G., Spiro J. E. (2021): 16p 11.2 deletion syndrome. Curr Opin Genet Dev, 68: 49-56. |
[28] | Ramsden D. A, Nussenzweig A. (2021): Mechanisms driving chromosomal translocations: lost in time and space. Oncogene, 40 (25): 4263-4270. |
[29] | Cassou B. (2008): Prévenir les maladies et promouvoir la santé des personnes âgées. Gérontologie et Société, 31 (125): 11- 22. |
[30] | Atipo-Tsiba PW. (2016): Mariage consanguin et morbi-mortalité, courte revue de la littérature à partir d'une association exceptionnelle: syndrome de Usher et neurofibromatose de Von Recklinghausen. Pan Afr, Med J, 23: 99p. |
[31] | Hitayezu J., Ndahindwa V., Murorunkwere S., Ndinkabandi J., Uwineza A. and al. (2016) Advanced maternal age, also an important risk factor for Down Syndrome in African black population. A nine - year experience in Rwanda and Burden Outcome. JSM Genet Genomics. 3 (1): 1012, 6p. |
[32] | Mabiala-Babela J. R., Mouko A., Samba-Louaka C., Senga P. (2005): Les ambiguïtés sexuelles à propos de quatre cas observés au CHU de Brazzaville. Méd Afr Noire, 52: 8-96. |
[33] | Hué A., Agbre-Yacé M. L., Danho J., Koffi D. P., Abodo J. et coll. (2019): Les anomalies de différenciation sexuelle en C ôte d’Ivoire: Aspects cliniques, paracliniques, thérapeutiques et problématique de la nouvelle classification basée sur les caryotypes. Health Sci. Dis, 20 (2): 24-29. |
[34] | Briard M. L., Morichon-Delvallez N. (2006): Anomalies chromosomiques. EMC, Pédiatrie-Maladies infectieuses, 4: 2-30. |
[35] | Smits M. A. J., Van Maarle M., Hamer G., Mastenbræk S., Goddijn M. and al. (2020): Cytogenetic testing of pregnancy loss tissue: a meta-analysis. Reprod Biomed, 40 (6): 67-79. |
[36] | Lamorilc J., Amezianea N., Deybachc J. C. (2008): Notions de génétique moléculaire pour comprendre l’hérédité. Immuno-analyse et biologie spécialisée, 23 (6): 331-52. |
[37] | Alif N., Hess K., Straczek J., Sebbar S., Belahssen Y. et al. (2000): Mucopolysacharidose de type I au Maroc: manifestations cliniques et profil génétique. Arch Ped, 7 (6) : 597-604. |
[38] | Engelmann P. (2002): Les interruptions médicales de grossesse: Évolutions législatives, témoignage et questions. Laennec, 4 (50): 16-26. |
[39] | Krahn M., Munnich D. S. A., Mattei J. F. (2016): Génétique Médicale-Enseignement thématique, Paris, 348 p. |
[40] | Hochstenbach R., Slunga-Tallberg A., Devlin C. and al. (2017): Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring. Eur J Hum Genet, 25 (3): 273- 274. |
[41] | Gilson L., Kalyalya D., Kuchler F., Lake S., Oranga H. and al. (2000): The equity impacts of community financing activities in three African countries. Int J of Health Planning and Management, 15 (4): 291-317. |
[42] | Gilson L. (1997): The lesson of user fee experience in Africa. Health Policy Plan., 12 (4): 73-85. |
[43] | Blaise P., Kegels G. A. (2004): Realistic approach to the evaluation of the quality management movement in health care systems: a comparison between European and African contexts based on Mintzberg's organizational models. Int J of Health Planning and Management, 19 (4): 37-64. |
APA Style
Deh Zhou Patricia, Goulai Bi You Etienne Bazago, Montéomo Gnaté François, Coulibaly Quidana Désirée, Dieth Malika Joane Astrid, et al. (2022). Contribution to the Struggle Against Chromosomal Abnormalities from Literature Review. International Journal of Genetics and Genomics, 10(2), 48-52. https://doi.org/10.11648/j.ijgg.20221002.12
ACS Style
Deh Zhou Patricia; Goulai Bi You Etienne Bazago; Montéomo Gnaté François; Coulibaly Quidana Désirée; Dieth Malika Joane Astrid, et al. Contribution to the Struggle Against Chromosomal Abnormalities from Literature Review. Int. J. Genet. Genomics 2022, 10(2), 48-52. doi: 10.11648/j.ijgg.20221002.12
AMA Style
Deh Zhou Patricia, Goulai Bi You Etienne Bazago, Montéomo Gnaté François, Coulibaly Quidana Désirée, Dieth Malika Joane Astrid, et al. Contribution to the Struggle Against Chromosomal Abnormalities from Literature Review. Int J Genet Genomics. 2022;10(2):48-52. doi: 10.11648/j.ijgg.20221002.12
@article{10.11648/j.ijgg.20221002.12, author = {Deh Zhou Patricia and Goulai Bi You Etienne Bazago and Montéomo Gnaté François and Coulibaly Quidana Désirée and Dieth Malika Joane Astrid and Okon Abou Joël Landry and Doukouré Brahima and Diomandé Mohenou Isidore Jean-Marie and Yao Gnangoran Victor}, title = {Contribution to the Struggle Against Chromosomal Abnormalities from Literature Review}, journal = {International Journal of Genetics and Genomics}, volume = {10}, number = {2}, pages = {48-52}, doi = {10.11648/j.ijgg.20221002.12}, url = {https://doi.org/10.11648/j.ijgg.20221002.12}, eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20221002.12}, abstract = {Chromosomal abnormalities have a variable severity, which can range from lethality before birth to the need for permanent medical care. The objective of this work was to propose a strategy to the struggle against chromosomal abnormalities through Departments of cytogenetics from literature review. Several documents have been consulted on the activities of Departments (or Services) of cytogenetics in relation to health care, ethical, legal and social problems concerning chromosomal abnormalities. In addition there are teaching and international collaboration in the field of cytogenetics. The corresponding articles have been published in journals with editorial, reading and scientific committees. According to this literature review, Services of cytogenetics should emphasize appropriate technologies and affordable prices, which can reach a significant portion of the population. In these Services, genetic counseling respects the right to full information and possible solutions regarding chromosomal abnormalities. Prevention through community sensitization, screening of populations and the possibility of early diagnosis should be carried out. The teaching of cytogenetics is therefore the starting point from which programs to combat chromosomal abnormalities will be introduced. Departments of cytogenetics must be supported by regulatory structures constituted by the scientific, medical and non-professional communities. Research is an important component of medical cytogenetics as well as international collaboration. This work includes a set of coordinated actions whose implementation would deal with chromosomal abnormalities.}, year = {2022} }
TY - JOUR T1 - Contribution to the Struggle Against Chromosomal Abnormalities from Literature Review AU - Deh Zhou Patricia AU - Goulai Bi You Etienne Bazago AU - Montéomo Gnaté François AU - Coulibaly Quidana Désirée AU - Dieth Malika Joane Astrid AU - Okon Abou Joël Landry AU - Doukouré Brahima AU - Diomandé Mohenou Isidore Jean-Marie AU - Yao Gnangoran Victor Y1 - 2022/05/07 PY - 2022 N1 - https://doi.org/10.11648/j.ijgg.20221002.12 DO - 10.11648/j.ijgg.20221002.12 T2 - International Journal of Genetics and Genomics JF - International Journal of Genetics and Genomics JO - International Journal of Genetics and Genomics SP - 48 EP - 52 PB - Science Publishing Group SN - 2376-7359 UR - https://doi.org/10.11648/j.ijgg.20221002.12 AB - Chromosomal abnormalities have a variable severity, which can range from lethality before birth to the need for permanent medical care. The objective of this work was to propose a strategy to the struggle against chromosomal abnormalities through Departments of cytogenetics from literature review. Several documents have been consulted on the activities of Departments (or Services) of cytogenetics in relation to health care, ethical, legal and social problems concerning chromosomal abnormalities. In addition there are teaching and international collaboration in the field of cytogenetics. The corresponding articles have been published in journals with editorial, reading and scientific committees. According to this literature review, Services of cytogenetics should emphasize appropriate technologies and affordable prices, which can reach a significant portion of the population. In these Services, genetic counseling respects the right to full information and possible solutions regarding chromosomal abnormalities. Prevention through community sensitization, screening of populations and the possibility of early diagnosis should be carried out. The teaching of cytogenetics is therefore the starting point from which programs to combat chromosomal abnormalities will be introduced. Departments of cytogenetics must be supported by regulatory structures constituted by the scientific, medical and non-professional communities. Research is an important component of medical cytogenetics as well as international collaboration. This work includes a set of coordinated actions whose implementation would deal with chromosomal abnormalities. VL - 10 IS - 2 ER -