Mechanical obstructions including uterine compression, oligohydramnios, and fibroids may be related to abnormal mandibular growth. In theory, etiologies such as alcohol abuse during pregnancy, environmental factors, and hereditary factors resulting in micrognathia early in development can lead to PRS. Embryologically, micrognathia is believed to be the primary defect which triggers a sequence of events including glossoptosis, with or without cleft palate. Although the first PRS case was described in 1923, the pathogenic mechanism of PRS remains unclear. Approximately 25% of PRS diagnosed in patients is associated with a known syndrome, 35% of patients have other abnormalities that do not constitute a recognizable syndrome (non-syndromic), and the remaining 40% of patients present with an isolated manifestation of PRSĭepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USAįulllist of author information is available at the end of the article The ratio between male and female is equal. The prevalence of PRS is estimated to be 1 in 8,500-14,000 births in the general population. The Pierre Robin sequence (PRS) is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Keywords: Small supernumerary marker chromosome, Pierre robin sequence, Array CGH, FISH, 16p13.3 Further studies of similar cases are needed to support our findings. The duplicated CREBBP gene within chromosome 16p13.3 is associated with incomplete penetrance regarding the mandible development anomalies. 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 14q 11.2 region and an 11.8 Mb gain in the 16p13.13-pter region.Ĭonclusions: 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. 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.

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).

Multiple etiologies including genetic defects have been documented in patients with syndromic, non-syndromic, and isolated PRS.Ĭase presentation: We report a 4-year-old boy with a complex small supernumerary marker chromosome (sSMC) who had non-syndromic Pierre Robin sequence (PRS). It is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Mingran Sun, Han Zhang, Guiying Li2, Xianfu Wang1, Xianglan Lu1, Andrea Sternenberger1, Carrie Guy1 1 1/1 1 ^ 1 ^ Wenfu Li, Jiyun Lee, Lei Zheng, and Shibo Liīackground: Pierre Robin sequence (PRS) is a condition present at birth. 16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance

Pierre robin sequence trisomy