Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

摘要

a–d Patient with coarse facies, narrow forehead, telecanthus, epicanthus, convergent strabismus, synophrys, hirsutism, broad nasal bridge, large ears, brachydactyly, and aberrant palmar creases; e aCGH showing an interstitial deletion of 7.2 Mb with breakpoints in bands 1p36.31p36.21: arr[GRCh37/hg19] 1p36.31p36.21(5414227_12632782)x1 dn; f DAPI counterstain FISH for the 1p36 region on metaphase chromosomes: locus specific probe for 1p36 marked with red fluorochrome (SureFISH, Agilent technologies, Santa Clara, USA) (one red arrow) and alpha satellite probe for chromosome 1 (chr1 CEP probe) marked with green fluorochrome (SureFISH, Agilent technologies, Santa Clara, USA) (one green arrow); deleted chromosome 1 with only one green fluorescent signal (one green arrow) and missing the red signal (two red arrows). Analysis was performed using an AXIO ImagerMI (Zeiss, Germany) microscope, and the images were obtained and analyzed using ISIS software (Meta Systems, Germany)