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Monosomy 18p due to whole arm translocation (CROSBI ID 490870)

Prilog sa skupa u časopisu | sažetak izlaganja sa skupa

Petković, Iskra ; Barišić, Ingeborg ; Sansović, Ivona Monosomy 18p due to whole arm translocation // European journal of human genetics. 2003. str. 121-121

Podaci o odgovornosti

Petković, Iskra ; Barišić, Ingeborg ; Sansović, Ivona

engleski

Monosomy 18p due to whole arm translocation

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.

18p monosomy; mental retardation; FISH

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

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Podaci o prilogu

121-121.

2003.

nije evidentirano

objavljeno

Podaci o matičnoj publikaciji

European journal of human genetics

1018-4813

Podaci o skupu

European Human Genetics Conference 2003

poster

03.05.2003-06.05.2003

Birmingham, Ujedinjeno Kraljevstvo

Povezanost rada

Kliničke medicinske znanosti

Indeksiranost