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Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?

โœ Scribed by Giuseppe Maria Maruotti; Floriana Fabbrini; Raffaele Napolitano; Rita Genesio; Anna Conti; Giovanna Mallia Milanes; Laura Letizia Mazzarelli; Pasquale Martinelli

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
104 KB
Volume
155
Category
Article
ISSN
1552-4825

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Prenatal detection of trisomy 18 caused
Prenatal detection of trisomy 18 caused by isochromosome 18p and 18q formation
โœ van den Berg, Cardi; Pijpers, Leen; Halley, Dicky J.J.; Opstal, Diane Van; Los, ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 33 KB ๐Ÿ‘ 2 views

We report on the prenatal detection and further genetic studies in a case of trisomy 18 caused by isochromosome 18p [i(18p)] and 18q [i(18q)] formation. The diagnosis was made by standard cytogenetic techniques in amniotic fluid cells and confirmed by fluorescence in situ hybridization. The formatio