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Table 2 Sequence analysis of the SLC22A5 gene. Limitation of this study was that the supposed carnitine uptake defect was not confirmed with the investigation of the uptake by fibroblast. 4. Conclusion A new homozygous Chloramben mutation of c.1427T>G?��?p.Leu476Arg was identified in these cases. Carnitine uptake defect is one of the rare treatable etiologies of metabolic cardiomyopathies. It should be suspected and searched for by measuring the levels of free and total carnitine in plasma and urine from such patients. The diagnosis of primary systemic carnitine deficiency should be confirmed by identification of biallelic pathogenic variants of SLC22A5 by molecular genetic testing. Acknowledgments The study was supported by the Hungarian Scientific Research Fund (OTKA) K103983 grant to Bela Melegh and J��nos Bolyai Research Scholarship of the Hungarian Academy of Sciences to Judit Bene. The authors also thank Marta Czako and Balazs Duga for performing array-CGH analysis. Conflict of Interests The authors declare that there is no conflict of interests regarding the publication of this paper. Authors' Contribution Hatice Mutlu-Albayrak and Judit Bene equally contributed to the paper.""While a syndrome due to a terminal deletion of 7q has been described [1, 2], interstitial selleck deletions in 7q have been less well categorized. Previously reported 7q interstitial deletions have spanned different chromosomal segments of varying sizes, making it check details difficult to define a 7q interstitial deletion syndrome. Furthermore, many of these patients were reported prior to the implementation of genome-wide array comparative genomic hybridization (array CGH) and knowledge of many gene locations and functions. We report on a patient with a 9.92?Mb interstitial chromosome deletion of 7q33-q35 and summarize the clinical features seen in this patient, other patients with 7q33-q35 deletions, and patients with other 7q interstitial and terminal deletions, to help understand the range of phenotypes seen in patients with interstitial 7q deletions. We also review the known genes in this region to assess relevant genotype-phenotype correlations. 2. Case Presentation The patient, now 16 years old, was born to a 23-year-old G4, P3��4 mother and 30-year-old father. During the pregnancy there was concern for decreased fetal movement. Labor was induced due to fetal distress at 36 weeks' gestation. Birth weight was 2614?g (