case_images: PMC4970234_01
case_images: Growth curve  Head circumference:for:age GIRLS. First Paediatric department, National and Kapodistrian University of Athens. Professor G.Chroussos. The standard curves are used by the Greek National Health System
case_images: 13039_2016_269_Fig1_HTML.jpg
case_images: PMC4970234_01_13039_2016_269_Fig1_HTML.jpg
case_images: Fig1
case_images: The examinations revealed peripheral hypertonia, psychomotor retardation (limited facial expression:no smile, poor eye contact), borderline microcephaly (head circumference of 39 cm, at 3rd centile) (Fig. 1a), periodical stereotypic movements and minor dysmorphic features such as a small forehead with bitemporal narrowing, strabismus, broad base to nose and long philtrum. At the age of 12 months, the head circumference was 40.7 cm (<< 3rd centile) (Fig. 1a) while the height and weight remained between 10th and 25th centile. Re-examination at the age of 19- months and 2-years, revealed head circumference of 42 cm (<< 3rd centile) (Fig. 1a), height of 75.5 cm (slightly below the 3rd centile) and weight of 9 Kg (slightly below the 3rd centile).
case_images: Array-CGH analysis detected a 4.09 Mb loss of the copy numbers in the spanning region 14q12. b Chromosome 14, region 25,843,560-29,938,629. Represents the 4,095,070 bp deletion described in our case report. The region includes both FOXG1 and NOVA1 genes. Figure adapted from http://genome.ucsc.edu/ Accessed at 18/10/2015
case_images: 13039_2016_269_Fig2_HTML.jpg
case_images: PMC4970234_01_13039_2016_269_Fig2_HTML.jpg
case_images: Fig2
case_images: Array-CGH analysis detected a 4.09 Mb loss in the 14q12 region (Fig. 2a). The genomic coordinates are listed according to genomic build GRCh37/hg19, and includes FOXG1 and NOVA1 genes (Fig. 2b).