title: Distal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report.
abstract: BACKGROUND
  Complete or partial trisomy 10q involves a duplication of 10q, or the long arm of chromosome 10. Distal 10q trisomy is a well-recognized and defined but rare genetic syndrome in which duplication of distal segments of 10q results in a pattern of malformations. Although abnormal chromosome phenotypes are commonly detected by visualization of chromosomes by traditional cytogenetic techniques, this approach is marginal in both diagnostic sensitivity and potential for biological interpretation, thus making implementation of advanced techniques and analysis methods an important consideration in a health service.
  
  
  METHODS
  The present study describes the case of a Taiwanese boy from healthy parents with mental, growth, and psychomotor retardations. Additional clinical features included facial dysmorphism, microcephaly, brain atrophy, camptodactyly, and-as the first reported case-bilateral renal atrophy with chronic kidney disease stage 2 and the presence of a renal cyst in one kidney. A novel 21.8 Mb copy number variation region in chromosome region 10q23.1-10q25.1 was verified by array-comparative genomic hybridization in combination with quantitative real-time polymerase chain reaction. Subsequently, 200 protein-coding genes were identified in this copy number variation region and analyzed for their biological meaning using the database for annotation, visualization and integrated discovery.
  
  
  CONCLUSIONS
  According to the result of gene functional enrichment analysis using database for annotation, visualization and integrated discovery, the Wnt signaling pathway is the most pertinent to the gene content in the copy number variation region. A change in the expression levels of some Wnt signaling pathway components and of NFKB2 and PTEN genes due to a gain in their gene copy number may be associated with the patient's clinical outcomes including brain atrophy, bilateral renal atrophy with chronic kidney disease stage 2, a renal cyst in one kidney, and growth retardation.
authors.affiliation: Departments of Pediatrics, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan. 03375@cych.org.tw.
authors.forename: Siew-Lee
authors.initials: SL
authors.lastname: Wong
authors.affiliation: Departments of Pediatrics, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan. 03834@cych.org.tw.
authors.forename: Hsin-Hsu
authors.initials: HH
authors.lastname: Chou
authors.affiliation: Departments of Pediatrics, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan. 04105@cych.org.tw.
authors.forename: Chung-Nun
authors.initials: CN
authors.lastname: Chao
authors.affiliation: Departments of Radiology, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan. 01289@cych.org.tw.
authors.forename: Joseph Hang
authors.initials: JH
authors.lastname: Leung
authors.affiliation: Departments of Medical Research, Ditmanson Medical Foundation Chia-Yi Christian Hospital, 539 Zhongxiao Road, East District, Chiayi, 600, Taiwan. cych11412@gmail.com.
authors.forename: Yu-Hsin
authors.initials: YH
authors.lastname: Chen
authors.affiliation: Departments of Medical Research, Ditmanson Medical Foundation Chia-Yi Christian Hospital, 539 Zhongxiao Road, East District, Chiayi, 600, Taiwan. cdh199712@gmail.com.
authors.forename: Cheng-Da
authors.initials: CD
authors.lastname: Hsu
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D004268:DNA-Binding Proteins / Q000235:genetics; D019066:Facies; D015870:Gene Expression; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D052003:NF-kappa B p52 Subunit / Q000235:genetics; D051059:PTEN Phosphohydrolase / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D051436:Renal Insufficiency, Chronic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics; D051153:Wnt Proteins / Q000235:genetics; D060449:Wnt Signaling Pathway / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C440108:LZTS2 protein, human; D052003:NF-kappa B p52 Subunit; C498206:NFKB2 protein, human; D025521:Tumor Suppressor Proteins; C490604:WNT8B protein, human; D051153:Wnt Proteins; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human