title: 16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance.
abstract: BACKGROUND
  Pierre Robin sequence (PRS) is a condition present at birth. It is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Multiple etiologies including genetic defects have been documented in patients with syndromic, non-syndromic, and isolated PRS.
  
  
  METHODS
  We report a 4-year-old boy with a complex small supernumerary marker chromosome (sSMC) who had non-syndromic Pierre Robin sequence (PRS). The complex marker chromosome, der(14)t(14;16)(q11.2;p13.13), was initially identified by routine chromosomal analysis and subsequently characterized by array-comparative genomic hybridization (array CGH) and confirmed by fluorescence in situ hybridization (FISH). Clinical manifestations included micrognathia, U-type cleft palate, bilateral congenital ptosis, upslanted and small eyes, bilateral inguinal hernias, umbilical hernia, bilateral clubfoot, and short fingers and toes. To our best knowledge, this was the first case diagnosed with non-syndromic PRS associated with a complex sSMC, which involved a 3.8 Mb gain in the 14q11.2 region and an 11.8 Mb gain in the 16p13.13-pter region.
  
  
  CONCLUSIONS
  We suggest that the duplicated chromosome segment 16p13.3 possibly may be responsible for the phenotypes of our case and also may be a candidate locus of non-syndromic PRS. The duplicated CREBBP gene within chromosome 16p13.3 is associated with incomplete penetrance regarding the mandible development anomalies. Further studies of similar cases are needed to support our findings.
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA ; Key Laboratory for Molecular Enzymology and Engineering, College of Life Sciences, Jilin University, Changchun, Jilin 130012 P. R. China.
authors.forename: Mingran
authors.initials: M
authors.lastname: Sun
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA ; Department of Obstetrics and Gynecology, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia V6T 1Z4 Canada.
authors.forename: Han
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Key Laboratory for Molecular Enzymology and Engineering, College of Life Sciences, Jilin University, Changchun, Jilin 130012 P. R. China.
authors.forename: Guiying
authors.initials: G
authors.lastname: Li
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
authors.forename: Xianfu
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
authors.forename: Xianglan
authors.initials: X
authors.lastname: Lu
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
authors.forename: Andrea
authors.initials: A
authors.lastname: Sternenberger
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
authors.forename: Carrie
authors.initials: C
authors.lastname: Guy
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
authors.forename: Wenfu
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA ; Department of Pathology, College of Medicine, Korea University, Seoul, 136-701 South Korea.
authors.forename: Jiyun
authors.initials: J
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA ; Genetics Laboratory, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu 730050 P. R. China.
authors.forename: Lei
authors.initials: L
authors.lastname: Zheng
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
authors.forename: Shibo
authors.initials: S
authors.lastname: Li
keywords: 16p13.3; Array CGH; FISH; Pierre robin sequence; Small supernumerary marker chromosome