Microdeletions - Angelman syndrome
Abstract
Abstract
The aim of the paper is to show the structural changes in the form of microdeletion malformations and the mechanisms of the origin of these two microdeletion syndromes, especially Angelman syndrome. In addition to the molecular mechanisms of origin, some of the most well-known microdeletion syndromes, their clinical, genetic and phenotypic characteristics are included. In addition to the broader picture of numerous syndromes that arise as a result of microdeletion changes, Angelman and Prader-Willi syndromes are particularly presented. The work refers to findings from the literature that explain the specificities of these syndromes, both in genotype, phenotype and clinical picture, as well as in other aspects of the psychomotor, speech-language and general health course of children and adults. The methods of molecular genetics within prenatal diagnostics are presented as significant preventive measures within the framework of genetic counseling and the prevalence of the occurrence of these all-pervading severe forms of the syndrome. Also, an overview of modern methods and techniques used in differential diagnosis and improving genetic counseling is given. By monitoring significant delays in all modalities of development and problems with general health functioning, some of the types of therapeutic interventions of the holistic and pharmacological-symptomatic type are included.
Key words: microdeletion syndromes, Angelman and Prader-Willi syndrome, multidisciplinary approach - prenatal counseling, pharmacological and defectological treatment
References
1.Schmickel, 1986Am. J. Hum. Genet. 49:1207-1218, 1991 Molecular Analysis of the Smith-Magenis Syndrome: A Possible Contiguous-Gene Syndrome Associated with del(l7)(pl 1.2) Frank Greenberg,
2. B Dallapiccola 1, R Mingarelli, G Novelli, The link between cytogenetics and mendelism, Biomed Pharmacother, Review ,1995;49(2):83-93.
3. Ninković,D.Medicinska genetika.Beograd.Fasper, 2011.(ISBN 978-86-80113-55-5)
4..Chen, Manian, Koeuth et al., 1997 Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
5. Shaw C , Weimin Bi, Lupski J, Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2, Am J Hum Genet. 2002 Nov;71(5):1072-81.
6. A Vogels , J P Fryns: The Prader-Willi syndrome and the Angelman syndrome, Genet Couns . 2002;13(4):385-96.
7. S B Cassidy , E Dykens, C A Williams, Prader-Willi and Angelman syndromes: sister imprinted disorders, Am J Med Genet . 2000 Summer;97(2):136-46.
8. Petković, G ; Marušić M,I sar, Angelmanov sindrom: prikaz dječaka s mikrodelecijom i blagom kliničkom slikom // Paediatria Croatica. 2004. str. 28-x
9. Barišić I, Marušić B: Genetske osnove razvojnog zaostajanja, Znanstveni pregled ,Paediatr Croat 2007;51:
10. Petrović B: Značaj kariotipizacije fetusa sa izolovanom anomalijom otkrivenom ultrazvučnim pregledom, Doktorska disertacija, Univerzitet u Beogradu Medicinski fakultet, Beograd,2018.
11. J Clayton-Smith, L Laan J Angelman syndrome: a review of the clinical and genetic aspects ,Med Genet 2003;40:87–95
12. Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet. 2003 Feb;40(2):87-95. doi: 10.1136/jmg.40.2.87.
13. B. D. Bower , P. M. Jeavons:The "happy puppet" syndrome, Arch Dis Child. 1967 Jun; 42(223): 298–302.
14. A Moncla P Malzac, Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counseling, J Med Genet. 1999 Jul;36(7):554-60.
15. C A Williams 1, Angelman. Angelman syndrome. Curr Probl Pediatr. 1995 Aug;25(7):216-31.
16. Rebrović Čančareviž,M.Klinički I rehabilitacijski aspekti Angelmanovog sindroma.Hrvatska revija za rehabilitacijska istraživanja, 2015. 51(2),87-95
17. Cokić B, Angelman sindrom – prikaz slučaja , Deseti nacionalni kongres Udruženja pedijatara Srbije, Udruženje za preventivnu pedijatriju Srbije, 2023.
18. Samanta, D).Epilepsy in Angelman syndrome: A scoping review. Brain andDevelopment, 2021.43(1), 32-44.https://doi.org/10.1016/j.braindev.2o20.08.014
19. M Ruggieri , M A McShane. Parental view of epilepsy in Angelman syndrome: a questionnaire study: Arch Dis Child.1998 Nov;79(5):423-6. doi: 10.1136/adc.79.5.423.
20. S G Boyd , A Harden, M A Patton. The EEG in early diagnosis of the Angelman (happy puppet) syndrome.Eur J Pediatr1988 Jun;147(5):508-13. doi: 10.1007/BF00441976.
21. Tešić M, Đurić M, Zamurović D, Kravljanac R, I sar.Faktori rizika za pojavu febrilnog napada . Pedijatrijski dani Srbije sa međunarodnim učešćem. Zbornik radova 2011,185-186
22.Stanojević M , Parezanović M,2, Popović A i sar.Preispitivanje uloge magnezijuma u istraživanjima epilepsije I zbrinjavanja pacijenata sa epilepsijom, 2023. | Volumen 4 / Broj 2 | Srpski medicinski časopis Lekarske komore Srbije
23.Janković S, Lukić S.Antiepileptički potencijal ganaksolona.Vojnosanitetski pregled 2017,sveska 74/5, 467-475
24. Marković, O. Brojalice u radu sa mlađom decom sa smetnjama u razvoju, VII stručno-naučni skup sa međunarodnim učešćem “Aktuelnosti u edukaciji i rehabilitaciji osoba sa smetnjama u razvoju”, Beograd,2024.
25.Marković,O. Mi to ovako.( lični pratilac deteta u školi), poster prezentacija, Zbornik rezimea,stručno-naučni skup sa međunarodnim učešćem, Dani defektologa Srbije, Beograd,2016.
Prilog: Slika 1.
Karyotype Of Angelman Syndrome #7 Kateryna Kon/science Photo Library,