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Pure segmental trisomy 1q42-qter in a boy with a severe phenotype

✍ Scribed by Antonio Percesepe; Licia Lugli; Mauro Pierluigi; Simona Cavani; Michela Malacarne; Maria Federica Roversi; Fabrizio Ferrari; Antonino Forabosco


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
143 KB
Volume
143A
Category
Article
ISSN
1552-4825

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Inv dup del (1)(pter?q44::q44?q42:) with
✍ De Brasi, D. ;Rossi, E. ;Giglio, S. ;D'Agostino, A. ;Titomanlio, L. ;Farina, V. πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 249 KB πŸ‘ 1 views

We report on a girl with a trisomy 1q42Β±q44 due to an inverted duplication of this region, associated with a terminal deletion of the long arm of the rearranged chromosome 1. Both the large duplication (more than 30 cM) and the small deletion were detected by FISH. Complete karyotype was: (46,XX, in