16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance
نویسندگان
چکیده
منابع مشابه
De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS. Here, we demonstrate the association...
متن کاملEarly communication intervention with young children with Pierre Robin sequence.
Young children with Pierre Robin sequence are at considerable risk to develop delayed or disordered communication development. This study investigated the effectiveness of early communication intervention with four young children with Pierre Robin sequence, aged 5 to 28 months. The Proportional Change Index (Wolery, 1983) was used to determine the amount of child progress that took place during...
متن کاملCervico-thoracic kyphosis in a girl with Pierre Robin sequence
Congenital cervico-thoracic kyphosis has been encountered in a girl with Pierre Robin sequence. The constellation of the spine malformation complex such as incomplete development of the vertebral bodies associated with defective ossification of the cervico-thoracic pedicles causing effectively the development of complete spinal cord injury at the kyphotic level of C7/T1 were present. Congenital...
متن کاملAirway management for intubation in newborns with Pierre Robin sequence.
OBJECTIVES/HYPOTHESIS To review airway management in Pierre Robin sequence (PRS) newborns undergoing general anesthesia and to determine if endotracheal intubation is safe in this population. STUDY DESIGN Case series and retrospective chart review at a tertiary children's hospital. METHODS PRS newborns who underwent endotracheal intubation or other airway intervention before 3 months of age...
متن کاملBMPR1B mutation causes Pierre Robin sequence
BACKGROUND We investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY This study aims to determine the genetic cause of PRS. RESULTS The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and G...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2014
ISSN: 1755-8166
DOI: 10.1186/s13039-014-0076-5