PMID- 25493098
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20141210
LR  - 20240322
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 7
IP  - 1
DP  - 2014
TI  - 16p13.3 duplication associated with non-syndromic pierre robin sequence with 
      incomplete penetrance.
PG  - 76
LID - 10.1186/s13039-014-0076-5 [doi]
LID - 76
AB  - 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. CASE 
      PRESENTATION: 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.
FAU - Sun, Mingran
AU  - Sun M
AD  - 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.
FAU - Zhang, Han
AU  - Zhang H
AD  - 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.
FAU - Li, Guiying
AU  - Li G
AD  - Key Laboratory for Molecular Enzymology and Engineering, College of Life 
      Sciences, Jilin University, Changchun, Jilin 130012 P. R. China.
FAU - Wang, Xianfu
AU  - Wang X
AD  - Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma 
      City, OK 73104 USA.
FAU - Lu, Xianglan
AU  - Lu X
AD  - Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma 
      City, OK 73104 USA.
FAU - Sternenberger, Andrea
AU  - Sternenberger A
AD  - Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma 
      City, OK 73104 USA.
FAU - Guy, Carrie
AU  - Guy C
AD  - Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma 
      City, OK 73104 USA.
FAU - Li, Wenfu
AU  - Li W
AD  - Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma 
      City, OK 73104 USA.
FAU - Lee, Jiyun
AU  - Lee J
AD  - 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.
FAU - Zheng, Lei
AU  - Zheng L
AD  - 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.
FAU - Li, Shibo
AU  - Li S
AD  - Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma 
      City, OK 73104 USA.
LA  - eng
PT  - Case Reports
DEP - 20141125
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC4260201
OTO - NOTNLM
OT  - 16p13.3
OT  - Array CGH
OT  - FISH
OT  - Pierre robin sequence
OT  - Small supernumerary marker chromosome
EDAT- 2014/12/11 06:00
MHDA- 2014/12/11 06:01
PMCR- 2014/11/25
CRDT- 2014/12/11 06:00
PHST- 2014/08/29 00:00 [received]
PHST- 2014/10/20 00:00 [accepted]
PHST- 2014/12/11 06:00 [entrez]
PHST- 2014/12/11 06:00 [pubmed]
PHST- 2014/12/11 06:01 [medline]
PHST- 2014/11/25 00:00 [pmc-release]
AID - 76 [pii]
AID - 10.1186/s13039-014-0076-5 [doi]
PST - epublish
SO  - Mol Cytogenet. 2014 Nov 25;7(1):76. doi: 10.1186/s13039-014-0076-5. eCollection 
      2014.