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. 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.
| Original language | English |
|---|---|
| Article number | 76 |
| Journal | Molecular Cytogenetics |
| Volume | 7 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2014 Jan 1 |
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Keywords
- 16p13.3
- Array CGH
- Fish
- Pierre robin sequence
- Small supernumerary marker chromosome
ASJC Scopus subject areas
- Biochemistry
- Molecular Medicine
- Molecular Biology
- Genetics
- Genetics(clinical)
- Biochemistry, medical
Cite this
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance. / Sun, Mingran; Zhang, Han; Li, Guiying; Wang, Xianfu; Lu, Xianglan; Sternenberger, Andrea; Guy, Carrie; Li, Wenfu; Lee, Ji-Yun; Zheng, Lei; Li, Shibo.
In: Molecular Cytogenetics, Vol. 7, No. 1, 76, 01.01.2014.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - 16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance
AU - Sun, Mingran
AU - Zhang, Han
AU - Li, Guiying
AU - Wang, Xianfu
AU - Lu, Xianglan
AU - Sternenberger, Andrea
AU - Guy, Carrie
AU - Li, Wenfu
AU - Lee, Ji-Yun
AU - Zheng, Lei
AU - Li, Shibo
PY - 2014/1/1
Y1 - 2014/1/1
N2 - 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.
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.
KW - 16p13.3
KW - Array CGH
KW - Fish
KW - Pierre robin sequence
KW - Small supernumerary marker chromosome
UR - http://www.scopus.com/inward/record.url?scp=84989328956&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84989328956&partnerID=8YFLogxK
U2 - 10.1186/s13039-014-0076-5
DO - 10.1186/s13039-014-0076-5
M3 - Article
AN - SCOPUS:84989328956
VL - 7
JO - Molecular Cytogenetics
JF - Molecular Cytogenetics
SN - 1755-8166
IS - 1
M1 - 76
ER -