title: Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up.
abstract: BACKGROUND
  Copy number variations at 2p11.2 have been rare and to our knowledge, no abnormal phenotype with an interstitial 2p11.2 duplication has yet been reported. Here we report the first case with syndromic intellectual disability associated with microduplication at 2p11.2.
  
  
  RESULTS
  We revisited a white female subject with a chromosome translocation, t(8;10)(p23;q23)mat and a 10q telomeric deletion suspected by G-banding 30 years ago. This female with severe intellectual disability, no speech, facial dysmorphism, intractable epilepsy, recurrent infection, and skeletal abnormalities has been observed from the birth until her death. The karyotype analysis reconfirmed the previously reported chromosome translocation with a revision as 46,XX,t(8;10)(p23.3;q23.2)mat by adding more detail in chromosomal sub-bands. The array comparative genomic hybridization, however, did not detect the 10q terminal deletion originally reported, but instead, revealed a 390 kb duplication at 2p11.2; 46,XX,t(8;10)(p23.3;q23.2)mat.arr[hg 19] 2p11.2(85469151x2,85474356-85864257x3,85868355x2). This duplication region was confirmed by real-time quantitative PCR and real-time reverse transcriptase quantitative PCR.
  
  
  CONCLUSIONS
  We suggest three positional candidate genes for intellectual disability and recurrent infection based upon gene function and data from real-time reverse transcriptase quantitative PCR-VAMP8 and RNF181 for intellectual disability and CAPG for recurrent infection.
authors.affiliation: Department of Laboratory Medicine, Inje University Haeundae Paik Hospital, Busan, South Korea.
authors.forename: Kyung Ran
authors.initials: KR
authors.lastname: Jun
authors.affiliation: Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
authors.forename: Reinhard
authors.initials: R
authors.lastname: Ullmann
authors.affiliation: Department of Biotechnology & Genetic engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
authors.forename: Saadullah
authors.initials: S
authors.lastname: Khan
authors.affiliation: Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Institute of Molecular Medicine and Genetics, Medical College of Georgia, Georgia Regents University, 1120 15th Street, Augusta, Georgia ; Neuroscience Program, Medical College of Georgia, Georgia Regents University, Augusta, Georgia.
authors.forename: Lawrence C
authors.initials: LC
authors.lastname: Layman
authors.affiliation: Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Institute of Molecular Medicine and Genetics, Medical College of Georgia, Georgia Regents University, 1120 15th Street, Augusta, Georgia.
authors.forename: Hyung-Goo
authors.initials: HG
authors.lastname: Kim
keywords: 2p11.2; Array CGH; CAPG; Copy number variation; Duplication; Intellectual disability; RNF181; Recurrent infection; VAMP8