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Severe mental retardation and slight dysmorphism in a child with a bisatellite extrachromosome: inversion duplication (15) ?

Rinaldi, M.M.; Militerni, R.; Pascotto, A.; Scarano, G.; Renda, S.; Cavaliere, M.L.; Santulli, B.; Esposito, M.; Ventruto, V.

La Pediatria Medica e Chirurgica Medical and Surgical Pediatrics 4(5): 559-561

1982

ISSN/ISBN: 0391-5387
PMID: 6927358
Document Number: 188700
A de novo tetrasomy 15 has been reported, in a 6 years old child. The patient had severe mental retardation an minimal physical stigmata, consisting in slight skeletal and facial dismorphism. Cytogenetic analysis showed that extrachromosome, G-like long, was bisatellited and dicentric and was interpreted either as an inversion duplication 15 or as 15; G or D translocation.

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