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De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.
Carter, Jennifer; Zombor, Melinda; Máté, Adrienn; Sztriha, László; Waters, Jonathan J.
Affiliation
  • Carter J; NE Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, Barclay House Levels 5&6, 37 Queen Square, London WC1N 3BG, UK.
  • Zombor M; Division B, Department of Paediatrics, University of Szeged, Temesvári Körút 35-37, Szeged 6726, Hungary.
  • Máté A; Division B, Department of Paediatrics, University of Szeged, Temesvári Körút 35-37, Szeged 6726, Hungary.
  • Sztriha L; Division B, Department of Paediatrics, University of Szeged, Temesvári Körút 35-37, Szeged 6726, Hungary.
  • Waters JJ; NE Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, Barclay House Levels 5&6, 37 Queen Square, London WC1N 3BG, UK.
Case Rep Genet ; 2016: 2501741, 2016.
Article in En | MEDLINE | ID: mdl-26955491
ABSTRACT
A 10-year-old boy was referred with developmental delay and dysmorphism. Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1 arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19]. This first report of a deletion in this region implies a critical role for dosage-sensitive genes within 1q32.1 in neurological development. This is consistent with previously reported duplications of this region in patients with a similar phenotype.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Case Rep Genet Year: 2016 Document type: Article Affiliation country: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Case Rep Genet Year: 2016 Document type: Article Affiliation country: United kingdom