Τίτλος:
Pure de novo partial trisomy 6p in a girl with craniosynostosis
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory tract infections. The most striking feature, however, was craniosynostosis, manifested by the premature fusion of the right coronal and sagittal sutures. A review of the literature revealed that the presence of abnormal fontanelles and sutures is relatively common among patients with proximal trisomy 6p. Exclusion of the most frequently occurring craniosynostosis mutations, as well as of further chromosomal anomalies in our case, suggest the presence of a gene regulating suture formation within this region. Based on recent findings, we hypothesize that the runt-related transcription factor 2 (RUNX2) may be a reasonable candidate gene for craniosynostosis in such patients. © 2013 Wiley Periodicals, Inc..
Συγγραφείς:
Varvagiannis, K.
Stefanidou, A.
Gyftodimou, Y.
Lord, H.
Williams, L.
Sarri, C.
Pandelia, E.
Bazopoulou-Kyrkanidou, E.
Noakes, C.
Lester, T.
Wilkie, A.O.
Petersen, M.B.
Περιοδικό:
American Journal of Medical Genetics. Part A
Λέξεις-κλειδιά:
DNA; transcription factor RUNX2, article; brachycephaly; case report; child; chromosome 6p; chromosome analysis; clinical feature; clinodactyly; computer assisted tomography; computer program; copy number variation; craniofacial synostosis; cranioplasty; DNA extraction; face malformation; female; fluorescence in situ hybridization; fontanel; gene; genetic analysis; hidden Markov model; high performance liquid chromatography; human; infant; karyotyping; language disability; maxilla hypoplasia; micrognathia; multiplex ligation dependent probe amplification; muscle hypertonia; occupational therapy; partial trisomy; partial trisomy 6p; polymerase chain reaction; preschool child; priority journal; prognathia; psychomotor retardation; recurrent infection; respiratory tract infection; Runx2 gene; single nucleotide polymorphism; skull radiography; speech therapy; strabismus; strabismus surgery; tooth malformation; valgus deformity, Abnormalities, Multiple; Child; Chromosomes, Human, Pair 6; Core Binding Factor Alpha 1 Subunit; Craniosynostoses; Developmental Disabilities; Female; Gene Duplication; Genetic Association Studies; Humans; Infant; Infant, Newborn; Syndrome; Trisomy
DOI:
10.1002/ajmg.a.35727
