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Trisomie 5p

✍ Scribed by C. Gerloff; W. Weise; K. Heckel; K. Knye

Publisher: Springer
Year: 1998
Weight: 284 KB
Volume: 10
Category: Article
ISSN: 0936-7160
DOI: 10.1007/s001520050091

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We describe an infant with trisomy of (5)(p10p13.1) resulting from a de novo marker chromosome. The marker's origin was identified by chromosome microdissection and reverse in situ hybridization. The clinical findings are compared to those of other partial and complete 5p duplications. This case fur

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A case of complete trisomy 5p due to a de novo translocation t(2;5)(q36;p11) with an isochromosome 5p is described. Complete trisomy 5p has been reported only once (Brimblecombe et al., 1977). The confusing literature relating to partial trisomy 5p is reviewed. Comparison of our case with the patien

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We present a case with a partial duplication 5p11→5p13.3 resulting from a maternal ins (19,5)(p11;p11-p13.3). The diagnosis was confirmed by FISH and complement component determinations. The clinical picture was similar to those described in patients with complete duplication of the short arm and in