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Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

✍ Scribed by Bonaglia, Maria C; Marelli, Susan; Novara, Francesca; Commodaro, Simona; Borgatti, Renato; Minardo, Grazia; Memo, Luigi; Mangold, Elisabeth; Beri, Silvana; Zucca, Claudio


Book ID
109849214
Publisher
Nature Publishing Group
Year
2010
Tongue
English
Weight
554 KB
Volume
18
Category
Article
ISSN
1018-4813

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We present the clinical, cytogenetic, and molecular studies on a constitutional deletion of 19q ascertained prenatally due to decreased fetal activity and IUGR. Chromosome analysis by GTG banding on amniocytes suggested a del(19)(q13.1q13.3), but the analysis of microsatellites by PCR demonstrated t