title: Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14.
abstract: Uniparental disomy (UPD) describes the inheritance of two homologous chromosomes from a single parent. Disease phenotypes associated with UPD and chromosomal imprinting, rather than with mutations, include Beckwith-Wiedemann syndrome (paternal UPD11p), Angelman syndrome (paternal UPD15), Prader-Willi syndrome (maternal UPD15), and transient neonatal diabetes (paternal UPD6). Here we report on the first case of paternal uniparental isodisomy of chromosome 14 with a mosaicism for a supernumerary marker chromosome 14. The patient demonstrated a small thorax with a 'coat hanger' shape of the ribs, kyphoscoliosis, hypoplasia of the maxilla and mandible, a broad nasal bridge with anteverted nares, contractures of the wrists with ulnar deviation bilaterally, diastasis recti, and marked muscle hypotonia. Vertical skin creases under the chin and stippled epiphyses of the humeri were features not previously described in patients with paternal UPD14. This case illustrates that as with the finding of an isochromosome, a supernumerary marker chromosome can be an important clue to the presence of UPD14.
authors: Department of Paediatrics, John Hunter Hospital, Newcastle, Australia. Joerg.Mattes@newcastle.edu.au
authors: Joerg
authors: J
authors: Mattes
authors: Bruce
authors: B
authors: Whitehead
authors: Thomas
authors: T
authors: Liehr
authors: Ian
authors: I
authors: Wilkinson
authors: John
authors: J
authors: Bear
authors: Kerry
authors: K
authors: Fagan
authors: Paul
authors: P
authors: Craven
authors: Bruce
authors: B
authors: Bennetts
authors: Matthew
authors: M
authors: Edwards
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14; D005260:Female; D005819:Genetic Markers; D018392:Genomic Imprinting; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism
chemical_list: D005819:Genetic Markers