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Pregled bibliografske jedinice broj: 409483

Family reciprocal translocation (8 ; 16)


Burek, M; Letica, L; Tonkovic Durisevic, I; Crkvenac Gornik, K; Lasan, R; Muzinic, D; Begovic, D
Family reciprocal translocation (8 ; 16) // ESHG
Barcelona, Španjolska, 2008. (poster, međunarodna recenzija, sažetak, ostalo)


CROSBI ID: 409483 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Family reciprocal translocation (8 ; 16)

Autori
Burek, M ; Letica, L ; Tonkovic Durisevic, I ; Crkvenac Gornik, K ; Lasan, R ; Muzinic, D ; Begovic, D

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Izvornik
ESHG / - , 2008

Skup
European HUMAN GENETICS Conference 2008

Mjesto i datum
Barcelona, Španjolska, 31.05.2008. - 03.06.2008

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Amniotic fluid; Reciprocal translocation (8; 16)

Sažetak
Amniotic fluid sample from 32 year old pregnant woman was taken and send in our laboratory to perform prenatal cytogenetic diagnosis by standard techniques with GTG staining. Result was karyotype with reciprocal balanced translocation 46, XY, t(8 ; 16)(p21.3 ; q22). Parents were referred to our outpatient clinic for genetic counselling. They presented the following family history: two female children 8, 5 and 6 years old with mental retardation, husband’ s brother and aunt are also mentaly retarded. Blood samples were taken from both parents and chromosome analysis had been carried out on peripheral lymphocytes by standard techniques with GTG staining. Mother had normal female karyotype. Father had karyotype with the same balanced translocation as fetus. It was recomended to reffer their two daughters and husband’ s brother for cytogenetic study. Clinical findings of girls were: mental retardation and facial dysmorphism. Blood samples were taken from both girls for chromosome analysis by standard techniques with GTG staining and Fluorescence in situ hybridization. Karyotypes of both girls were pathologic with derivative chromosome 8, resulting from translocation (8 ; 16) in father: 46, XX, der(8)t(8 ; 16)(p21.3 ; q22)pat. It means that girls have partial trisomy of chromosome 16 and partial monosomy of chromosome 8, which is the reason for their mental retardation.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
108-0000000-0049 - Zloćudne bolesti u djece (Konja, Josip, MZOS ) ( CroRIS)
108-0000000-0353 - Novi pristupi dijagnostici nasljednih bolesti (Begović, Davor, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb


Citiraj ovu publikaciju:

Burek, M; Letica, L; Tonkovic Durisevic, I; Crkvenac Gornik, K; Lasan, R; Muzinic, D; Begovic, D
Family reciprocal translocation (8 ; 16) // ESHG
Barcelona, Španjolska, 2008. (poster, međunarodna recenzija, sažetak, ostalo)
Burek, M., Letica, L., Tonkovic Durisevic, I., Crkvenac Gornik, K., Lasan, R., Muzinic, D. & Begovic, D. (2008) Family reciprocal translocation (8 ; 16). U: ESHG.
@article{article, author = {Burek, M and Letica, L and Tonkovic Durisevic, I and Crkvenac Gornik, K and Lasan, R and Muzinic, D and Begovic, D}, year = {2008}, keywords = {Amniotic fluid, Reciprocal translocation (8, 16)}, title = {Family reciprocal translocation (8 ; 16)}, keyword = {Amniotic fluid, Reciprocal translocation (8, 16)}, publisherplace = {Barcelona, \v{S}panjolska} }
@article{article, author = {Burek, M and Letica, L and Tonkovic Durisevic, I and Crkvenac Gornik, K and Lasan, R and Muzinic, D and Begovic, D}, year = {2008}, keywords = {Amniotic fluid, Reciprocal translocation (8, 16)}, title = {Family reciprocal translocation (8 ; 16)}, keyword = {Amniotic fluid, Reciprocal translocation (8, 16)}, publisherplace = {Barcelona, \v{S}panjolska} }




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