Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy.

摘要: We present the clinical and molecular findings in a Turkish child with de novo mosaic ring derived from chromosome 4 multiple cell-lines; karyotype was 46,XY,r(4)[83]/45,XY, −4[6]/47,XY,r(4),+r(4)[5]/48,XY,r(4),+r(4),+dic r(4)[1]/46,XY[5]. The patient is 20-month-old male who first pregnancy of nonconsanguineous parents. baby delivered at term birth weight 1,700 g (<3rd centile) length 46 cm. had feeding difficulties vomiting problems. He started walking age 2 years delayed language observed. Facial appearance normal, but ears were large abnormal structure. hands showed bilateral clinodactyly 5th fingers. mild mental retardation, epilepsy. Analysis chromosomes 46,XY,r(4)(::p16.3 → qter::)[67]/46,XY,r(4;4)(::p16.3 → qter::p16.3 → qter::)[2]/46,XY[3] by multicolor banding (MCB) technique. Array CGH delineated size terminal deletion as 900 kb 4p16.3. Wolf–Hirschhorn critical region preserved even though our motor retardation. While mosaicism could affect phenotype, deleted distal features may provide further insight into characteristic phenotype 4p− related syndromes. © 2009 Wiley-Liss, Inc.