PMC4514952_01
Chromosome G-banding result from the patient. The total number of cells counted was hundred. a Ring chromosome (67 %). b Monosomy 6 (25 %). c Dicentric ring chromosome (6 %). d Double ring chromosome (2 %)
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Fig1
Exaggerated growth hormone responses to arginine, levodopa and clonidine stimulation were within normal range, whereas karyotype analysis revealed mosaic ring chromosome 6 (Fig. 1).
a-f: MRI imaging of the brain of this patient. a and b Axial T1W and T2W image, showing left parietal lobe. c Coronal T2W section showing white matter abnormalities in the bilateral parietal lobe. d Coronal T2W section showing white matter abnormalities in the bilateral occipital lobe. e and f Axial and Coronal FLAIR image, showing periventricular heterotopia on the bilateral posterior horn of the lateral ventricle
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Fig2
Neither hydrocephalus nor enlarged lateral ventricles were detected (Fig. 2).
The result of array-CGH. Vertical and horizontal axes indicate the genomic location and signal log2 ratio, respectively. Dots indicate the location and the signal log2 ratio of the microarray probes. a Chromosomal view of the chromosome 6 shows a genomic copy number loss at q27. b Gene view expands the aberration region. The blue rectangle indicates and the blue bars indicate the aberration region and the locations of the genes. Two genes discussed in the text are marked by red oblongs. The mean log2 ratio of the aberration region is -0.780567, indicating mosaic deletion
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Fig3
The microarray-based comparative genomic hybridization (array-CGH) analysis was performed as described previously and revealed a genomic copy number loss at 6q27 (Fig. 3).