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16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance.

Sun M, Zhang H, Li G, Wang X, Lu X, Sternenberger A, Guy C, Li W, Lee J, Zheng L, Li S - Mol Cytogenet (2014)

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

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.

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.

No MeSH data available.


Related in: MedlinePlus

Karyotype result. G-banding revealed a karyotype 47, XY, +mar in all studied cells. The marker is highlighted by an arrow.
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Fig1: Karyotype result. G-banding revealed a karyotype 47, XY, +mar in all studied cells. The marker is highlighted by an arrow.

Mentions: G-banding of chromosomes derived from the peripheral blood showed that each of the 21 cells analyzed had a modal number of 47 chromosomes including one X and one Y chromosome and a small supernumerary marker chromosome of unknown chromosomal origin. Based on the morphology, this marker chromosome appeared to be derived from one of the acrocentric chromosomes, but the size was smaller than chromosome 21 (Figure 1).Figure 1


16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance.

Sun M, Zhang H, Li G, Wang X, Lu X, Sternenberger A, Guy C, Li W, Lee J, Zheng L, Li S - Mol Cytogenet (2014)

Karyotype result. G-banding revealed a karyotype 47, XY, +mar in all studied cells. The marker is highlighted by an arrow.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4260201&req=5

Fig1: Karyotype result. G-banding revealed a karyotype 47, XY, +mar in all studied cells. The marker is highlighted by an arrow.
Mentions: G-banding of chromosomes derived from the peripheral blood showed that each of the 21 cells analyzed had a modal number of 47 chromosomes including one X and one Y chromosome and a small supernumerary marker chromosome of unknown chromosomal origin. Based on the morphology, this marker chromosome appeared to be derived from one of the acrocentric chromosomes, but the size was smaller than chromosome 21 (Figure 1).Figure 1

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

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.

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.

No MeSH data available.


Related in: MedlinePlus