PMC4203459_01
PMC4203459_02
PMC4203459_03
Frontal and profile views of our patient at 71 mo of age with the 20q13.2-q13.33 deletion identified by microarray analysis.
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F1
At 32 mo of age, her height was 72 cm (< 3%), weight was 8.1 kg (< 3%) and head circumference was 44 cm (< 3%) (Fig. 1).
Chromosomal microarray analysis using the Affymetrix Genome-Wide Human SNP Array 6.0 showing the location of the deletion on chromosome 20 involving bands q13.2 and q13.3 (53,512,484-60,850,110 bp from p terminus). Y axis shows the chromosome copy number (2 = normal or nondeletion; 1 = deletion from a single chromosome; 0 = deletion from both chromosomes). Genes in the deleted region are shown.
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F2
Affymetrix Genome-Wide Human SNP Array 6.0 version was used which consists of 1.8 million DNA probes to determine deletions or duplications in the genome. A 7.3 Mb size deletion was found involving the 20q13.2-q13.33 region [53,512,484-60,850,110 bp based on the University of California, Santa Clara (UCSC) hg 19 human genome, National Center for Biotechnology Information (NCBI) build 37, February 2009)] (Fig. 2).