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Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14
Author(s) -
Mattes Joerg,
Whitehead Bruce,
Liehr Thomas,
Wilkinson Ian,
Bear John,
Fagan Kerry,
Craven Paul,
Bennetts Bruce,
Edwards Matthew
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31896
Subject(s) - uniparental disomy , small supernumerary marker chromosome , isochromosome , supernumerary , genetics , biology , marker chromosome , hypotonia , karyotype , chromosome , anatomy , gene
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. © 2007 Wiley‐Liss, Inc.