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Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature

✍ Scribed by Lucia Ballarati; Anna Cereda; Rossella Caselli; Angelo Selicorni; Maria P. Recalcati; Silvia Maitz; Palma Finelli; Lidia Larizza; Daniela Giardino


Book ID
116433323
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
607 KB
Volume
54
Category
Article
ISSN
1769-7212

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A paternally inherited terminal deletion
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A subtle terminal deletion of the short arm of chromosome 8 with a breakpoint in p23.1 was detected in amniocytes. Parental chromosome studies revealed a similar deletion in the father. The fetus did not have any abnormalities in a level II ultrasound. The pregnancy was continued and resulted in the