Document Detail

Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?
MedLine Citation:
PMID:  12838568     Owner:  NLM     Status:  MEDLINE    
We describe an 8.5-year-old boy with facial dysmorphism consisting of a round and flat face, telecanthus, periorbital fullness, short nose, downturned corners of the mouth, and micrognathia. In addition, profound mental retardation, tetralogy of Fallot, and renal dysplasia were present. Tentative clinical diagnoses during the 6-year follow-up included Down, Hennekam, and Noonan syndromes. Refinement of cytogenetic techniques, especially increase of banding resolution in conventional cytogenetic analysis, gave the clue to the correct diagnosis, which was proven by fluorescence in situ hybridization (FISH) with whole chromosome paints and single copy probes. We could show that he had an unbalanced translocation inherited from his father resulting in partial monosomy 18p and partial trisomy 20p. The combination of deletion 18p/duplication 20p was previously reported in three patients and seems to have a clinically recognizable face.
Dagmar Wieczorek; Oliver Bartsch; Gabriele Gillessen-Kaesbach
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  120A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Jul 
Date Detail:
Created Date:  2003-07-02     Completed Date:  2004-02-18     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:  429-33     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Institut für Humangenetik, Universitätsklinikum, Essen, Germany.
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MeSH Terms
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 18*
Chromosomes, Human, Pair 20*
Cytogenetic Analysis
Developmental Disabilities / genetics,  physiopathology
In Situ Hybridization, Fluorescence

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