De novo unbalanced whole arm translocation resulting in 18p- syndrome (CROSBI ID 553792)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Petković, Iskra ; Barišić, Ingeborg
engleski
De novo unbalanced whole arm translocation resulting in 18p- syndrome
Whole arm translocations(WAT) are rare constitutional abnormalities. Aberration results from centromeric fission or juxtacentromeric breaks and reciprocal exchange of entire arms of two chromosomes. WAT involving chromosome 18 account for approximately 16% of all cases of monosomy 18p. To the best of our knowledge only three cases of t(15 ; 18) leading to 18p monosomy have been reported so far. In this study we performed clinical, cytogenetic and FISH studies in one additional case of 18p monosomy due to unbalanced WAT. Our patient is an 8-year-old girl. The child's phenotype showed mental and somatic retardation, round and dysmorphic face, strabismus, skeletal anomalies, heart malformations and muscular hypotonia. Cytogenetic analyses were performed on slides obtained by peripheral blood culture. High-resolution G-banding method, RBG- and CBG- methods were used for chromosome identification. FISH method with whole chromosome 15 and 18 painting probes, D15Z1, SNRPN, PML, D18Z1 and D18S552 probes were used for precise characterization of structural rearrangement. Analysis revealed monosomy 18p resulting from an unbalanced whole arm translocation between chromosome 15 and 18. Aberrant chromosome presents two centromeric constrictions. CBG-banding did not show two separate centromeric regions, while FISH analysis confirmed the presence of centromeric regions from chromosome 15 and 18 on the derived chromosome. Breakpoints were attributed to 15p11.2 and 18p11 bands. Parental karyotypes were normal indicating de novo origin of chromosome rearrangement. Mechanisms of formation of WAT are poorly understood. This study presents evidence that unbalanced WAT between chromosomes 15 and 18 retain centromeric region of both chromosomes involved in the rearrangement, and suggests that translocation is not the result of recombination involving centromeric α -satellite DNA. Other factors like interphase chromosome domains, low-copy repeats or segmental duplications may be important in the etiology of unbalanced whole arm translocation 15 ; 18 in our patient as well as in two other cases reported in literature.
whole arm translocation
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Podaci o prilogu
S34-S34.
2009.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
Chromosome research
Macgregor, Herbert
Dordrecht: Springer
0967-3849
Podaci o skupu
7th European Cytogenetics Conference
poster
04.07.2009-07.07.2009
Stockholm, Švedska