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A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl |
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| Authors: | V Belengeanu TH Gamage S Farcas M Stoian N Andreescu A Belengeanu E Frengen D Misceo |
| Institution: | 1. Discipline of Medical Genetics, University of Medicine and Pharmacy, Timisoara, Romania;2. Department of Medical Genetics, University of Oslo, Norway;3. Department of Medical Genetics, Oslo University Hospital, Norway;4. Discipline of Cellular and Molecular Biology, University of Medicine and Pharmacy, Timisoara, Romania |
| Abstract: | We report a 20-month-old girl ascertained at the age of 11 months for developmental delay. She presented with hypotonia and delayed motor development. The patient had severe language impairment and showed behaviour consistent with autism spectrum disorder. She was microcephalic with mild dysmorphic features and had joint hyperlaxity. We detected a 2.3 Mb de novo deletion in 2q24.2q24.3 on her paternal chromosome. |
| Keywords: | aCGH array comparative genomic hybridization DPP4 dipeptidyl-peptidase 4 EEG electroencephalography FAP fibroblast activation protein alpha FIGN fidgetin FISH fluorescence in situ hybridization GCA granalcin GCG glucagon IFIH1 interferon induced with helicase C domain 1 KCNH7 potassium voltage gated channel subfamily H member 7 MRI magnetic resonance imaging MS-MLPA methylation-specific-multiplex ligation-dependent probe amplification OFC occipitofrontal circumference PSMD14 proteasome 26S subunit non-ATPase 14 qPCR quantitative polymerasse chain reaction SLC4A10 solute carrier family 4 sodium bicarbonate transporter member 10 TBR1 T-box Brain 1 |
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