Naslov
Monosomy 18p due to whole arm translocation

Autori
Petković, Iskra ; Barišić, Ingeborg ; Sansović, Ivona

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

Izvornik
Book of Abstracts of the European Human Genetics Conference u ; European Journal of Human Genetics. Supplement 11 (2003) (S1) / - , 2003, 121-121

Skup
European Human Genetics Conference 2003

Mjesto i datum
Birmingham, Ujedinjeno Kraljevstvo, 03.05.2003. - 06.05.2003

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
18p monosomy; mental retardation; FISH

Sažetak
Monosomy 18p is one of the most frequent autosomal deletion syndrome, with variable clinical presentation. Most cases are due to terminal deletion, and only few cases from de novo whole arm translocation. Unbalanced whole arm translocations of chromosome 18 usually involve chromosomes 21 and 22. The mechanism of whole arm translocation is unknown yet. We present the results of clinical and cytogenetic study of a case with partial monosomy 18p due to unbalanced translocation. Our patient is 8-years-old girl with mild mental retardation and facial dysmorphism. Cytogenetic analysis was performed on slides obtained by peripheral blood culture. We used high resolution GTG-banding method and FISH analysis with chromosome 15 and 18 painting probe. ToTelVysion Multi-color DNA Probe Mixtures for subtelomere detection and Prader Willi/Angelman probe for precise chromosome 15 characterization. Analysis revealed aberrant karyotype with 45 chromosomes, missing chromosomes 15 and 18, and the presence of the rearranged chromosome. Banding pattern and FISH analysis excluded complex chromosomal rearrangement and showed that the aberrant chromosome was composed of the long arms of chromosomes 15 and 18, with the presence of the centromeric region of both chromosomes involved and the absence of 18p subtelomeric sequences. This study presents evidence that unbalanced whole arm translocation between chromosomes 15 and 18 retain centromeric regions of both chromosomes involved in the rarrangement.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA