Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridization

Ruzica Lasan Trcić, Vlasta Hitrec, Ljiljana Letica, Mario Cuk, Davor Begović
2003 Croatian Medical Journal  
Conventional cytogenetics detected an interstitial deletion of proximal region of p-arm of chromosome 2 in a 6-month-old boy with a phenotype slightly resembling Down's syndrome. The deletion was inherited from the father, whose karyotype revealed a small ring-shaped marker chromosome, in addition to interstitial deletion. Fluorescence in situ hybridization identified the marker, which consisted of the proximal region of the p-arm of chromosome 2, including a part of its centromere. This case
more » ... romere. This case shows that molecular cytogenetic analysis can reveal the mechanism of the formation of the marker chromosome.
pmid:12950153 fatcat:wlzwirrvqvfo3epxwc5qqksxxe