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Scientific paper - Case study
Sindrom prstenastog kromosoma 18
Medicina Fluminensis : Medicina Fluminensis, 46 (2010), 2; 208-213. urn:nbn:hr:184:205354
Pereza, Nina; Buretić-Tomljanović, Alena; Vraneković, Jadranka; Ostojić, Saša; Kapović, Miljenko

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Pereza, N., Buretić Tomljanović, A., Vraneković, J., Ostojić, S. & Kapović, M. (2010). Sindrom prstenastog kromosoma 18. Medicina Fluminensis : Medicina Fluminensis, 46. (2), 208-213. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:205354

Pereza, Nina, et al. "Sindrom prstenastog kromosoma 18." Medicina Fluminensis : Medicina Fluminensis, vol. 46, no. 2, 2010, pp. 208-213. https://urn.nsk.hr/urn:nbn:hr:184:205354

Pereza, Nina, Alena Buretić Tomljanović, Jadranka Vraneković, Saša Ostojić and Miljenko Kapović. "Sindrom prstenastog kromosoma 18." Medicina Fluminensis : Medicina Fluminensis 46, no. 2 (2010): 208-213. https://urn.nsk.hr/urn:nbn:hr:184:205354

Pereza, N., et al. (2010) 'Sindrom prstenastog kromosoma 18', Medicina Fluminensis : Medicina Fluminensis, 46(2), pp. 208-213. Available at: https://urn.nsk.hr/urn:nbn:hr:184:205354 (Accessed 19 November 2024)

Pereza N, Buretić Tomljanović A, Vraneković J, Ostojić S, Kapović M. Sindrom prstenastog kromosoma 18. Medicina Fluminensis : Medicina Fluminensis [Internet]. 2010 June 07 [cited 2024 November 19];46(2):208-213. Available at: https://urn.nsk.hr/urn:nbn:hr:184:205354

N. Pereza, A. Buretić Tomljanović, J. Vraneković, S. Ostojić and M. Kapović, "Sindrom prstenastog kromosoma 18", Medicina Fluminensis : Medicina Fluminensis, vol. 46, no. 2, pp. 208-213, June 2010. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:205354. [Accessed: 19 November 2024]

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Metadata
Title (croatian)Sindrom prstenastog kromosoma 18
Title (english)Ring chromosome 18 syndrome
AuthorNina Pereza
AuthorAlena Buretić-Tomljanović
AuthorJadranka Vraneković
AuthorSaša Ostojić
AuthorMiljenko Kapović
Author's institutionUniversity of Rijeka
Faculty of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract (croatian)
Cilj: Prstenasti ili ring kromosom rijetka je strukturna promjena kromosoma koja najčešće nastaje zbog terminalne delecije na oba kraka kromosoma te ponovnog spajanja preostalih dijelova kratkog i dugog kraka kromosoma u prstenastu strukturu. Sindromi prstenastih kromosoma iznimno su rijetki s incidencijom od 1 : 50.000 živorođene djece. U ovom radu prikazujemo prvi slučaj djevojčice sa sindromom prstenastog kromosoma 18 zabilježenog na Zavodu za biologiju i medicinsku genetiku (Medicinski fakultet, Sveučilište u Rijeci). Prikaz slučaja: Bolesnica je dvanaestogodišnja djevojčica sa psihomotornom retardacijom, mikrocefalijom, niskim rastom, dismorfijom lica (hipertelorizam, hipoplazija srednjeg lica, usni kutovi okrenuti prema dolje, rascjep nepca, prognatija, nisko postavljene uške), obostranom stenozom vanjskog slušnog hodnika uz provodnu gluhoću i brahidaktilijom. Citogenetičkom analizom utvrđen je mozaični kariotip: 46,XX,r(18)(p11.3;q23)[97]/45,XX,-18[3] de novo. Daljnjom kliničkom obradom utvrđeno je kako bolesnica ima obilježja klasična za deleciju oba kraka 18. kromosoma. Klinička obilježja djeteta prikazana su i uspoređena s klasičnim kliničkim obilježjima sindroma. Rasprava i zaključak: Iako je sindrom prstenastog kromosoma 18 rijedak genetički poremećaj, nužno je prepoznati dijete s multiplim prirođenim anomalijama već na razini primarne zdravstvene zaštite te ga zbog pravilnog genetičkog informiranja i odabira odgovarajuće terapije što prije uputiti na specijalističku obradu, kao i na citogenetičku analizu.
Abstract (english)
Aim: Ring chromosomes are rare structural chromosomal aberrations which form after the breakage in both terminal regions of the affected chromosome with fusion of the short and long arm into a ring formation. The incidence of ring chromosome syndromes is estimated to be about 1:50.000 live born children. Here we present the first case of a girl with ring chromosome 18 syndrome identifed at the Department of biology and medical genetics (School of medicine, University of Rijeka). Case report: The patient is a twelve-year old girl with psychomotor retardation, microcephaly, short stature, dysmorphic facies (hypertelorism, midface hypoplasia, downturned corners of mouth, cleft palate, prognathia, low-set ears), bilateral stenosis of the external auditory canal with conductive deafness and brachydactyly. Cytogenetic analysis determined a mosaic karyotype: 46,XX,r(18)(p11.3;q23)[97]/45,XX,-18[3] de novo. Our patient has the characteristic features of 18p and 18q deletion syndromes. We present the clinical features of the patient and compare them to the classical features of 18p and 18q deletion syndromes. Discussion and conclusion: Although ring chromosome 18 syndrome is a rare genetic disorder it is necessary to identify the child with multiple congenital anomalies by primary care physicians and refer the child to the proper medical instituti on for genetic testing and genetic counseling.
Keywords (croatian)
Keywords (english)
Languagecroatian
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleMedicina Fluminensis : Medicina Fluminensis
Numberingvol. 46, no. 2, pp. 208-213
p-ISSN0025-7729
URN:NBNurn:nbn:hr:184:205354
Publication2010-06-07
Document URLhttp://hrcak.srce.hr/53228
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2017-05-09 13:53:46