A new case of interstitial 1q 25.3-32.1 deletion : cytogenetic analysis molecular characterization and ultrasound findings

INTRODUCTION: deletion of long arm of chromosome 1(1q-) is a rare condition. Clinical features include Dwarfism, severe mental retardation, microcephaly and short neck delineating the "intermediate 1q deletion syndrome"

Bibliographische Detailangaben
Veröffentlicht in:Journal of prenatal medicine. - 2007. - 9(2015), 1-2 vom: 05. Jan., Seite 8-11
1. Verfasser: Libotte, Francesco (VerfasserIn)
Weitere Verfasser: Bizzoco, Domenico, Gabrielli, Ivan, Tamburrino, Caterina, Ernandez, Cristina, Carpineto, Lorena, D'Aleo, Maria Pia, Cima, Antonella, Mesoraca, Alvaro, Cignini, Pietro, Aloisi, Alessia, Angioli, Roberto, Vitale, Salvatore Giovanni, Giorlandino, Claudio
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2015
Zugriff auf das übergeordnete Werk:Journal of prenatal medicine
Schlagworte:Case Reports Dandy-Walker bilateral clubfoot chromosome 1 intermediate 1q deletion syndrome interstitial deletion