Ontology highlight
ABSTRACT:
SUBMITTER: Yakut S
PROVIDER: S-EPMC3776657 | biostudies-literature | 2012 Jun
REPOSITORIES: biostudies-literature
Yakut S S Mihci E E Altiok Clark O O Cetin Z Z Keser I I Berker S S Luleci G G
Balkan journal of medical genetics : BJMG 20120601 1
Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast cells. We describe here a patient with PKS and intrachromosomal triplication of the short arm of chromosome 12. Her karyotype was mos 46,XX,inv trp(12)(p11.2p13)[34]/ 46,XX[16]de novo by conventional cytogenetics and fluorescent in situ hybridization (FISH) analysis. However, this chromosomal abnormality was not detected from the patient's cul ...[more]