PMC3111033_01
PMC3111033_02
T2-weighted brain magnetic resonance imaging showing lissencephaly with band heterotopia and agenesis of the corpus callosum.
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F1
An electroencephalogram showed diffuse brain dysfunction, and magnetic resonance imaging (MRI) showed lissencephaly with band heterotopia and agenesis of the corpus callosum (Fig. 1).
(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)].
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F2
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.
(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.
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F3
The MDS probe signal (17p13.3) was detected on chromosome 12qter, indicating an unbalanced segregation of t(12;17) (Fig. 3).
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).
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F4
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).