title: Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion.
abstract: BACKGROUND
  Trichorhinophalangeal syndrome type II (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and skeletal abnormalities. Loss of functional copies of the TRPS1 gene at 8q23.3 and the EXT1 gene at 8q24.11 are considered to be responsible for the syndrome.
  
  
  METHODS
  Herewith, we report an 8-year-old girl with sparse scalp hair, bulbous nose, thin upper lip, broad eyebrows, phalangeal abnormalities of both hands/toes, multiple exostoses, mild intellectual impairment and severe malnutrition. In addition, the patient also had annular pancreas, a rare co-existing feature in patients with TRPS II.
  
  
  CONCLUSIONS
  A contiguous 5.47 Mb deletion involving 8q23.3-q24.12 was detected by array comparative genomic hybridization (aCGH), leading to haploinsufficiency of 10 protein coding genes, 1 long non-coding RNA and 1 microRNA. Quantitative PCR (qPCR) examination confirmed half-reduced DNA copy of the patient and normal expression of both parents, indicating a de novo origin of the deletion and complete penetrance of the mutation.
authors.affiliation: Department of Pediatric Surgery, Capital Institute of Pediatrics, No. 2 Yabao Rd, Beijing, 100020 China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Li
authors.affiliation: Department of Pediatric Surgery, Capital Institute of Pediatrics, No. 2 Yabao Rd, Beijing, 100020 China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: 2Department of Radiology, Capital Institute of Pediatrics Affiliated Children's Hospital, Beijing, China.
authors.forename: Yuchun
authors.initials: Y
authors.lastname: Yan
authors.affiliation: Department of Pathology, Capital Institute of Pediatrics Affiliated Children's Hospital, Beijing, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Xiao
authors.affiliation: Department of Neurology, Capital Institute of Pediatrics Affiliated Children's Hospital, Beijing, China.
authors.forename: Zhijie
authors.initials: Z
authors.lastname: Gao
authors.affiliation: Department of Surgery, Beijing United Family Hospital, Beijing, China ; Department of Paediatrics and Surgery, Faculty of Medicine, Nursing and Health Sciences, Monash University, Victoria, Australia.
authors.forename: Wei
authors.initials: W
authors.lastname: Cheng
authors.affiliation: Reproductive Medicine Center, Clinical College of PLA Affiliated Anhui Medical University, Hefei, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Su
authors.affiliation: Department of Pathophysiology, School of Preclinical Sciences, Guangxi Medical University, Nanning, China.
authors.forename: Kaihui
authors.initials: K
authors.lastname: Yu
authors.affiliation: Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Xie
authors.affiliation: Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Chen
authors.affiliation: Department of Medical Genetics, Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Jiang
authors.affiliation: Department of Pediatric Surgery, Capital Institute of Pediatrics, No. 2 Yabao Rd, Beijing, 100020 China.
authors.forename: Long
authors.initials: L
authors.lastname: Li
keywords: 8q23.3-q24.12 deletion; Annular pancreas; Chinese; Trichorhinophalangeal syndrome type II; qPCR