Metrika članka

  • citati u SCindeksu: 0
  • citati u CrossRef-u:0
  • citati u Google Scholaru:[=>]
  • posete u prethodnih 30 dana:5
  • preuzimanja u prethodnih 30 dana:0
članak: 1 od 1  
Medicinski časopis
2015, vol. 49, br. 4, str. 139-143
jezik rada: srpski
vrsta rada: prikaz slučaja
doi:10.5937/mckg49-9744


Amniocentezom detektovana monozomija 18p - de Grouchy sindrom 1
aOdsek citogenetske diagnostike, Klinika za ginekologiju i akušerstvo, Klinički centar 'Kragujevac ', Kragujevac
bKlinika za ginekologiju i akušerstvo, Klinički centar 'Kragujevac', Kragujevac, Fakultet medicinskih nauka, Kragujevac
cKlinika za ginekologiju i akušerstvo, Klinički centar 'Kragujevac', Kragujevac

e-adresa: gordana.sosic.2011.02@gmail.com

Sažetak

Monozomija 18p (de Grouchy sindrom 1) predstavlja strukturnu hromozomsku aberaciju nastalu usled delecije dela ili celog kratkog (p) kraka hromozoma 18. U 2/3 slučajeva nastaje usled de novo terminalne delecije kratkog kraka hromozoma 18, dok u ostalim slučajevima postoji transmisija s roditelja. Kliničke manifestacije ovog sindroma umerene su i nespecifične i često se u kliničkom ispitivanju mogu prevideti. Obično postoji i mentalna retardacija različitog stepena, postnatalni zastoj u rastu, nizak rast kao i kasni razvoj govora kod dece, a često su prisutne kraniofacijalne malformacije. Na rođenju fenotipske manifestacije ovog sindroma su minimalne, a abnormalnosti postaju uočljivije nakon treće godine života. Definitivna diajnoza zahteva kariotipizaciju i analizu hromozoma ploda ili aficirane osobe. Studije su pokazale da je kritična tačka za prekid na hromozomu locirana u blizini centromere u regionu 18 p11.1 (prisutan je kod 44-72% ispitanika). Prekid u regionu između p11.1 i p1.21 u vezi je sa višim stepenom mentalne retardacije u odnosu na prekide distalno od ovih tačaka na p kraku hromozoma 18. Slučajevi prenatalno detektovane monozomije 18p su retki i najčešće se dijagnostifikuju nakon abnormalnog nalaza UZ prvog trimestra ili slučajno, putem invazivne prenatalne dijagnostike. Radi davanja genetskog saveta u vezi s budućim trudnoćama u slučajevima prenatalno utvrđene monozomije 18p ili u slučaju rođenja deteta s ovom strukturnom hromozomskom aberacijom, treba odrediti kariotipove roditelja.

Ključne reči

hromozomi; humani; par 18; monozomija; delecija hromozoma

Reference

*** (2013) 18p deletions: Understanding chromosome disorders. Oxted, San Antonio: Rare Chromosome Disorder Support Group, Unique, http://www.rarechromo.org/information/Chromosome%2018/18p%20deletions%20FTNW.pdf
Babaji, P., Singh, A., Lau, H., Lamba, G., Somasundaram, P. (2014) Deletion of short arm of chromosome 18, Del(18p) syndrome. Journal of Indian Society of Pedodontics and Preventive Dentistry, 32(1): 68
Babovic-Vuksanovic, D., Jenkins, S.C., Ensenauer, R., Newman, D.C., Jalal, S.M. (2004) Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation. American journal of medical genetics. Part A, 124A(3): 318-22
Brenk, C.H., Prott, E., Trost, D., Hoischen, A., Walldorf, C., Radlwimmer, B., Wieczorek, D., Propping, P., Gillessen-Kaesbach, G., Weber, R.G. (2007) Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. European journal of human genetics, 15(1): 35-44
Browning, M.J. (2010) Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency. Journal of investigational allergology & clinical immunology, 20(3): 263-6
Carvalho, C.A., Carvalho, A.V., Kiss, A., Paskulin, G., Götze, F.M. (2011) Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18. An Bras Dermatol, 86(4 Suppl 1), S42-5
Chen, C.P., Chern, S.R., Wang, W., Lee, C.C., Chen, W.L., Chen, L.F., Chang, T.Y., Tzen, C.Y. (2001) Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis. Prenatal diagnosis, 21(5): 346-50
Gardner, R.J.M. (2011) Chromosome abnormalities and genetic counseling. New York: Oxford University Press, 4th ed
Graziadio, C., Rosa, R.F.M., Zen, P.R.G., de Camargo, P.L.L., Barea, L.M., Paskulin, G.A. (2009) Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion. Arquivos de neuro-psiquiatria, 67(3A): 689-91
Horsley, S.W., Knight, S.J., Nixon, J., Huson, S., Fitchett, M., Boone, R.A., Hilton-Jones, D., Flint, J., Kearney, L. (1998) Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements. Journal of medical genetics, 35(9): 722-6
Kasasbeh, F.A., Shawabkeh, M.M., Hawamdeh, A.A. (2011) Deletion of 18p Syndrome. Laboratory Medicine, 42(7): 436-438
Koshy, B., Mandal, K., Srivastava, V.M., Loius, P.T., Danda, S. (2011) Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation. Clinical dysmorphology, 20(3): 148-51
Maranda, B., Lemieux, N., Lemyre, E. (2006) Familial deletion 18p syndrome: case report. BMC Medical Genetics, 7(1): 60
McGhee, E.M., Qu, Y., Wohlferd, M.M., Goldberg, J.D., Norton, M.E., Cotter, P.D. (2001) Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p. Clinical genetics, 59(4): 274-8
Milošević, Đ.O. (2010) Principi kliničke citogenetike. Kragujevac: Medicinski fakultet
Sepulveda, W. (2009) Monosomy 18p presenting with holoprosencephaly and increased nuchal translucency in the first trimester: report of 2 cases. Journal of ultrasound in medicine, 28(8): 1077-80
Turleau, C. (2008) Monosomy 18p. Orphanet Journal of Rare Diseases, 3(1): 4
Xie, C., Yang, J., Gong, F., Zhao, Z. (2008) Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome. Yonsei Medical Journal, 49(3): 500