case_images: PMC3111033_01
case_images: PMC3111033_02
case_images: T2-weighted brain magnetic resonance imaging showing lissencephaly with band heterotopia and agenesis of the corpus callosum.
case_images: kjlm-31-49-g001.jpg
case_images: PMC3111033_02_kjlm-31-49-g001.jpg
case_images: F1
case_images: An electroencephalogram showed diffuse brain dysfunction, and magnetic resonance imaging (MRI) showed lissencephaly with band heterotopia and agenesis of the corpus callosum (Fig. 1).
case_images: (A) Results of presumptive karyotype analysis of the proband [46,XX,del(17)(p13)] showing deletion of 17p.13 pter (arrow). (B) Results of presumptive karyotype analysis of the proband's father [46,XY,t(12;17)(q24.33;p13)].
case_images: kjlm-31-49-g002.jpg
case_images: PMC3111033_02_kjlm-31-49-g002.jpg
case_images: F2
case_images: Conventional cytogenetic analysis of the proband revealed a possible abnormal karyotype [46,XX,del(17)(p13)] (Fig. 2A). Cytogenetic analysis of the proband's father showed a shortened p-arm of chromosome 17 (Fig. 2B), which strongly suggested a balanced translocation of 17p and another chromosome.
case_images: (A) Proband's metaphase FISH results. One orange and 2 green signals indicate loss of 17p13.3. (B) Sequential G-banding (left) and FISH (right) performed on her father's metaphase chromosomes. G-banded metaphase with arrows indicating chromosome 12 and 17. Note that an orange signal of 17p13.3 is observed in chromosome 12q.
case_images: kjlm-31-49-g003.jpg
case_images: PMC3111033_02_kjlm-31-49-g003.jpg
case_images: F3
case_images: The MDS probe signal (17p13.3) was detected on chromosome 12qter, indicating an unbalanced segregation of t(12;17) (Fig. 3).
case_images: Array comparative genomic hybridization ratio profile data for chromosomes 12 and 17 of the proband. Chromosome 12 shows no duplication or deletion on the q-arm (left). Chromosome 17 shows deletion (-4.6 Mb) on the p-arm (right).
case_images: kjlm-31-49-g004.jpg
case_images: PMC3111033_02_kjlm-31-49-g004.jpg
case_images: F4
case_images: Alto, CA, USA), which consists of approximately 244,000 arrayed 60-base oligonucleotide-probes that span both coding and non-coding sequences with an average spatial resolution of about 15 kb. Array CGH showed about a 4.6-Mb deletion involving 17p13.3, but it did not show duplication at 12q [arr17p13.3p13.2 (28,969-4,653,156)x1 pat] (Fig. 4).