Figure 1. Dysmorphic features include prominent forehead, triangular face, high nasal root, thin upper lip, downturned corners of the mouth, and a small, pointed chin.
| Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access |
| Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc |
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Case Report
Volume 6, Number 6, June 2015, pages 264-267
13q Deletion in a Girl Contributing to Antenatal Stroke, Insulin Resistance and Lymphedema Praecox: Expanding the Clinical Spectrum
Figure
Tables
| -30 min | 0 min | 30 min | 60 min | 90 min | 120 min | 150 min | 180 min | |
|---|---|---|---|---|---|---|---|---|
| Homeostasis model of assessment-insulin resistance (HOMA-IR): 2.8. | ||||||||
| Glucose (mg/dL) | 82 | 79 | 154 | 80 | 106 | 99 | 70 | 68 |
| Insulin (mU/L) | 13.7 | 14.6 | 170 | 59.5 | 92.9 | 72.6 | 30.7 | 14.7 |
| Gene name | Description | Band |
|---|---|---|
| EFNB2 | ephrin-B2 (Source: HGNC Symbol; Acc:3227) | 13q33.3 |
| ARGLU1 | arginine and glutamate rich 1 (Source: HGNC Symbol; Acc:25482) | 13q33.3 |
| FAM155A | family with sequence similarity 155, member A (Source: HGNC Symbol; Acc:33877) | 13q33.3 |
| LIG4 | ligase IV, DNA, ATP-dependent (Source: HGNC Symbol; Acc: 6601) | 13q33.3 |
| ABHD13 | abhydrolase domain containing 13 (Source: HGNC Symbol; Acc: 20293) | 13q33.3 |
| TNFSF13B | tumor necrosis factor (ligand) superfamily, member 13b (Source: HGNC Symbol; Acc: 11929) | 13q33.3 |
| MYO16 | myosin XVI (Source: HGNC Symbol; Acc: 29822) | 13q33.3 |
| IRS2 | insulin receptor substrate 2 (Source: HGNC Symbol; Acc: 6126) | 13q34 |
| COL4A1 | collagen, type IV, alpha 1 (Source: HGNC Symbol; Acc: 2202) | 13q34 |
| COL4A2 | collagen, type IV, alpha 2 (Source: HGNC Symbol; Acc: 2203) | 13q34 |
| RAB20 | RAB20, member RAS oncogene family (Source: HGNC Symbol; Acc: 18260) | 13q34 |
| CARKD | carbohydrate kinase domain containing (Source: HGNC Symbol; Acc: 25576) | 13q34 |
| CARS2 | cysteinyl-tRNA synthetase 2, mitochondrial (putative) (Source: HGNC Symbol; Acc: 25695) | 13q34 |
| ING1 | inhibitor of growth family, member 1 (Source: HGNC Symbol; Acc: 6062) | 13q34 |
| LINC00346 | long intergenic non-protein coding RNA 346 (Source: HGNC Symbol; Acc: 27492) | 13q34 |
| ANKRD10 | ankyrin repeat domain 10 (Source: HGNC Symbol; Acc: 20265) | 13q34 |
| ARHGEF7 | Rho guanine nucleotide exchange factor (GEF) 7 (Source: HGNC Symbol; Acc: 15607) | 13q34 |
| TEX29 | testis expressed 29 (Source: HGNC Symbol; Acc: 20370) | 13q34 |
| RP11-65D24.2 | HCG2045795; Uncharacterized protein (Source: UniProtKB/TrEMBL; Acc: Q5T400) | 13q34 |
| SOX1 | SRY (sex determining region Y)-box 1 (Source: HGNC Symbol; Acc: 11189) | 13q34 |
| SPACA7 | sperm acrosome associated 7 (Source: HGNC Symbol; Acc: 29575) | 13q34 |
| TUBGCP3 | tubulin, gamma complex associated protein 3 (Source: HGNC Symbol; Acc: 18598) | 13q34 |
| ATP11A | ATPase, class VI, type 11A (Source: HGNC Symbol; Acc: 13552) | 13q34 |
| MCF2L | MCF.2 cell line derived transforming sequence-like (Source: HGNC Symbol; Acc: 14576) | 13q34 |
| F7 | coagulation factor VII (serum prothrombin conversion accelerator) (Source: HGNC Symbol; Acc: 3544) | 13q34 |
| F10 | coagulation factor X (Source: HGNC Symbol; Acc: 3528) | 13q34 |
| PROZ | protein Z, vitamin K-dependent plasma glycoprotein (Source: HGNC Symbol; Acc: 9460) | 13q34 |
| PCID2 | PCI domain containing 2 (Source: HGNC Symbol; Acc: 25653) | 13q34 |
| CUL4A | cullin 4A (Source: HGNC Symbol; Acc: 2554) | 13q34 |
| LAMP1 | lysosomal-associated membrane protein 1 (Source: HGNC Symbol; Acc: 6499) | 13q34 |
| GRTP1 | growth hormone regulated TBC protein 1 (Source: HGNC Symbol; Acc: 20310) | 13q34 |
| ADPRHL1 | ADP-ribosylhydrolase like 1 (Source: HGNC Symbol; Acc: 21303) | 13q34 |
| DCUN1D2 | DCN1, defective in cullin neddylation 1, domain containing 2 (Source: HGNC Symbol; Acc: 20328) | 13q34 |
| TMCO3 | transmembrane and coiled-coil domains 3 (Source: HGNC Symbol; Acc: 20329) | 13q34 |
| TFDP1 | transcription factor Dp-1 (Source: HGNC Symbol; Acc: 11749) | 13q34 |
| ATP4B | ATPase, H+/K+ exchanging, beta polypeptide (Source: HGNC Symbol; Acc: 820) | 13q34 |
| GRK1 | G protein-coupled receptor kinase 1 (Source: HGNC Symbol; Acc: 10013) | 13q34 |
| TMEM255B | transmembrane protein 255B (Source: HGNC Symbol; Acc: 28297) | 13q34 |
| GAS6 | growth arrest-specific 6 (Source: HGNC Symbol; Acc: 4168) | 13q34 |
| RASA3 | RAS p21 protein activator 3 (Source: HGNC Symbol; Acc: 20331) | 13q34 |
| CDC16 | cell division cycle 16 (Source: HGNC Symbol; Acc: 1720) | 13q34 |
| UPF3A | UPF3 regulator of nonsense transcripts homolog A (yeast) (Source: HGNC Symbol; Acc: 20332) | 13q34 |
| CHAMP1 | chromosome alignment maintaining phosphoprotein 1 (Source: HGNC Symbol; Acc: 20311) | 13q34 |