PMC5595156_01
Molecular karyotyping was performed by array-CGH on the proband's DNA using an Agilent 60 K array platform with a resolution of approximately 100 kb. Based on the physical mapping positions of the February 2009 Assembly (GRCh37/hg19) of the UCSC Genome Browser, this analysis showed a deletion of approximately 4,942 Mb that involved the 15q26.2-q26.3 region, with the breakpoint falling between 97,457,185 bp (first deleted oligomer) and 102,399,819 bp (last deleted oligomer).
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F2
Technologies, Santa Clara, CA, USA). The CGH-array revealed a heterozygous deletion of chromosome 15, comprising 4.942 Mbp of the terminal part of its long arm (15q26.2-q26.3) involving several genes, such as IGF1R, ADAMTS17 (A Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif, 17), CERS3 (Ceramide Synthase 3), ALDH1A3 (Aldehyde Dehydrogenase 1 Family, Member A3), and Chondroitin Sulfate Synthase 1 (CHSY1) (Figure 2; Table 1) The deletion was not present in the parents.
Cross-sectional evaluation of trabecular bone mineral density (TrabBMD) (A), cortical bone mineral density (CrtBMD) (B), total density corrected for age (C), bone area corrected for height (D), muscle cross-sectional area (MuscleCSA) corrected for height (E), bone area corrected for MuscleCSA (F), fat cross-sectional area (FatCSA) corrected for height (G), and density-weighted polar section modulus (SSIp) (H). The gray squares in the panels (A,B,C,H) represent the bone age-adjusted values.
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F3
Fat and muscle components were also poorly represented (304 mm2, z-score -1.8; and 1,376 mm2, z-score -1.9, respectively) (Figures 3A-H).