De novo complete trisomy 5p: Clinical report and FISH studies

We describe a de novo trisomy 5p in a 1‐year‐old severely retarded boy. The complete short arm of chromosome 5 segregated as an additional marker chromosome in all metaphases. The marker was identified as 5p by conventional cytogenetic techniques (GTG, GBG, CBG) and molecular cytogenetic techniques...

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Bibliographic Details
Published in:	American journal of medical genetics Vol. 85; no. 5; pp. 447 - 451
Main Authors:	Reichenbach, Herbert, Holland, Heidrun, Dalitz, Elisabeth, Demandt, Catrin, Meiner, Annechristin, Chudoba, Ilse, Lemke, Johannes, Claussen, Uwe, Froster, Ursula G.
Format:	Journal Article
Language:	English
Published:	New York Wiley Subscription Services, Inc., A Wiley Company 27-08-1999
Subjects:	5p trisomy Centromere - genetics Chromosome Mapping Chromosome Painting Chromosomes, Human, Pair 5 Craniofacial Abnormalities - genetics Cri-du-Chat Syndrome - genetics FISH Humans In Situ Hybridization, Fluorescence - methods Infant Intellectual Disability - genetics Karyotyping macrocephaly Male marker chromosome Psychomotor Performance Respiratory System Abnormalities - genetics Respiratory Tract Infections - etiology Trisomy
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Summary:	We describe a de novo trisomy 5p in a 1‐year‐old severely retarded boy. The complete short arm of chromosome 5 segregated as an additional marker chromosome in all metaphases. The marker was identified as 5p by conventional cytogenetic techniques (GTG, GBG, CBG) and molecular cytogenetic techniques (whole chromosome‐painting probe, probes for the cri‐du‐chat region and the centromere, and additionally high‐resolution multicolor banding using a chromosome 5–specific DNA probe cocktail). The clinical findings were similar to the established trisomy 5p phenotype including macrocephaly, facial abnormalities, tracheobronchial defects with subsequent respiratory infections, hypotonia, and psychomotor retardation. To the best of our knowledge this is the first description of an isolated complete 5p trisomy without involvement of the aberrant chromosome in any structural chromosomal rearrangements. Am. J. Med. Genet. 85:447–451, 1999. © 1999 Wiley‐Liss, Inc.
Bibliography:	ArticleID:AJMG3 istex:82D19DEC94E1459482BC756FB08C520F0FFA5FE8 ark:/67375/WNG-G1M3DN3N-X ObjectType-Case Study-3 SourceType-Scholarly Journals-1 content type line 23 ObjectType-Review-1 ObjectType-Feature-5 ObjectType-Report-2 ObjectType-Article-4
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19990827)85:5<447::AID-AJMG3>3.0.CO;2-5