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 1.
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.


Table 1. Oral Glucose Tolerance Test (OGTT)
-30 min0 min30 min60 min90 min120 min150 min180 min
Homeostasis model of assessment-insulin resistance (HOMA-IR): 2.8.
Glucose (mg/dL)827915480106997068
Insulin (mU/L)13.714.617059.592.972.630.714.7


Table 2. Genes Mapping to Chromosome 13q33.3-34 (Ensembl/Biomart)
Gene nameDescriptionBand
EFNB2ephrin-B2 (Source: HGNC Symbol; Acc:3227)13q33.3
ARGLU1arginine and glutamate rich 1 (Source: HGNC Symbol; Acc:25482)13q33.3
FAM155Afamily with sequence similarity 155, member A (Source: HGNC Symbol; Acc:33877)13q33.3
LIG4ligase IV, DNA, ATP-dependent (Source: HGNC Symbol; Acc: 6601)13q33.3
ABHD13abhydrolase domain containing 13 (Source: HGNC Symbol; Acc: 20293)13q33.3
TNFSF13Btumor necrosis factor (ligand) superfamily, member 13b (Source: HGNC Symbol; Acc: 11929)13q33.3
MYO16myosin XVI (Source: HGNC Symbol; Acc: 29822)13q33.3
IRS2insulin receptor substrate 2 (Source: HGNC Symbol; Acc: 6126)13q34
COL4A1collagen, type IV, alpha 1 (Source: HGNC Symbol; Acc: 2202)13q34
COL4A2collagen, type IV, alpha 2 (Source: HGNC Symbol; Acc: 2203)13q34
RAB20RAB20, member RAS oncogene family (Source: HGNC Symbol; Acc: 18260)13q34
CARKDcarbohydrate kinase domain containing (Source: HGNC Symbol; Acc: 25576)13q34
CARS2cysteinyl-tRNA synthetase 2, mitochondrial (putative) (Source: HGNC Symbol; Acc: 25695)13q34
ING1inhibitor of growth family, member 1 (Source: HGNC Symbol; Acc: 6062)13q34
LINC00346long intergenic non-protein coding RNA 346 (Source: HGNC Symbol; Acc: 27492)13q34
ANKRD10ankyrin repeat domain 10 (Source: HGNC Symbol; Acc: 20265)13q34
ARHGEF7Rho guanine nucleotide exchange factor (GEF) 7 (Source: HGNC Symbol; Acc: 15607)13q34
TEX29testis expressed 29 (Source: HGNC Symbol; Acc: 20370)13q34
RP11-65D24.2HCG2045795; Uncharacterized protein (Source: UniProtKB/TrEMBL; Acc: Q5T400)13q34
SOX1SRY (sex determining region Y)-box 1 (Source: HGNC Symbol; Acc: 11189)13q34
SPACA7sperm acrosome associated 7 (Source: HGNC Symbol; Acc: 29575)13q34
TUBGCP3tubulin, gamma complex associated protein 3 (Source: HGNC Symbol; Acc: 18598)13q34
ATP11AATPase, class VI, type 11A (Source: HGNC Symbol; Acc: 13552)13q34
MCF2LMCF.2 cell line derived transforming sequence-like (Source: HGNC Symbol; Acc: 14576)13q34
F7coagulation factor VII (serum prothrombin conversion accelerator) (Source: HGNC Symbol; Acc: 3544)13q34
F10coagulation factor X (Source: HGNC Symbol; Acc: 3528)13q34
PROZprotein Z, vitamin K-dependent plasma glycoprotein (Source: HGNC Symbol; Acc: 9460)13q34
PCID2PCI domain containing 2 (Source: HGNC Symbol; Acc: 25653)13q34
CUL4Acullin 4A (Source: HGNC Symbol; Acc: 2554)13q34
LAMP1lysosomal-associated membrane protein 1 (Source: HGNC Symbol; Acc: 6499)13q34
GRTP1growth hormone regulated TBC protein 1 (Source: HGNC Symbol; Acc: 20310)13q34
ADPRHL1ADP-ribosylhydrolase like 1 (Source: HGNC Symbol; Acc: 21303)13q34
DCUN1D2DCN1, defective in cullin neddylation 1, domain containing 2 (Source: HGNC Symbol; Acc: 20328)13q34
TMCO3transmembrane and coiled-coil domains 3 (Source: HGNC Symbol; Acc: 20329)13q34
TFDP1transcription factor Dp-1 (Source: HGNC Symbol; Acc: 11749)13q34
ATP4BATPase, H+/K+ exchanging, beta polypeptide (Source: HGNC Symbol; Acc: 820)13q34
GRK1G protein-coupled receptor kinase 1 (Source: HGNC Symbol; Acc: 10013)13q34
TMEM255Btransmembrane protein 255B (Source: HGNC Symbol; Acc: 28297)13q34
GAS6growth arrest-specific 6 (Source: HGNC Symbol; Acc: 4168)13q34
RASA3RAS p21 protein activator 3 (Source: HGNC Symbol; Acc: 20331)13q34
CDC16cell division cycle 16 (Source: HGNC Symbol; Acc: 1720)13q34
UPF3AUPF3 regulator of nonsense transcripts homolog A (yeast) (Source: HGNC Symbol; Acc: 20332)13q34
CHAMP1chromosome alignment maintaining phosphoprotein 1 (Source: HGNC Symbol; Acc: 20311)13q34