Document Detail


Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14.
MedLine Citation:
PMID:  17702046     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Joerg Mattes; Bruce Whitehead; Thomas Liehr; Ian Wilkinson; John Bear; Kerry Fagan; Paul Craven; Bruce Bennetts; Matthew Edwards
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 Sep 
Date Detail:
Created Date:  2007-08-23     Completed Date:  2007-12-13     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2165-71     Citation Subset:  IM    
Copyright Information:
(c) 2007 Wiley-Liss, Inc.
Affiliation:
Department of Paediatrics, John Hunter Hospital, Newcastle, Australia. Joerg.Mattes@newcastle.edu.au
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Chromosomes, Human, Pair 14*
Female
Genetic Markers*
Genomic Imprinting*
Humans
Infant, Newborn
Karyotyping
Male
Mosaicism*
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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