title: A new case of interstitial 1q 25.3-32.1 deletion: cytogenetic analysis molecular characterization and ultrasound findings.
abstract: BACKGROUND
  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".
  
  
  METHODS
  we report a new case of interstitial deletion of the long arm of chromosome 1, diagnosed in a 22+3 weeks gestation fetus in which cytogenetic analysis localized a loss of genetic materials of 18Mb in the 1q25.3-32.1. Fetal ultrasound showed neurodegenerative defects resembling Dandy-Walker's syndrome and bilateral clubfoot.
  
  
  CONCLUSIONS
  clinical characteristics of our case are markedly mild. This suggests that the type and the extension of the mutation obtained through cytogenetic studies, CGH array and ultrasound evaluation should be taken into account for prognostic evaluation and management of these patients.
authors.affiliation: Department of Genetics, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Libotte
authors.affiliation: Department of Genetics, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: Bizzoco
authors.affiliation: Department of Genetics, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
authors.forename: Ivan
authors.initials: I
authors.lastname: Gabrielli
authors.affiliation: Department of Genetics, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Tamburrino
authors.affiliation: Department of Genetics, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Ernandez
authors.affiliation: Department of Genetics, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
authors.forename: Lorena
authors.initials: L
authors.lastname: Carpineto
authors.affiliation: Department of Genetics, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: D'Aleo
authors.affiliation: Department of Genetics, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Cima
authors.affiliation: Department of Genetics, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
authors.forename: Alvaro
authors.initials: A
authors.lastname: Mesoraca
authors.affiliation: Department of Prenatal Diagnosis, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Cignini
authors.affiliation: Department of Obstetrics and Gynecology, Campus Biomedico University, Rome, Italy.
authors.forename: Alessia
authors.initials: A
authors.lastname: Aloisi
authors.affiliation: Department of Obstetrics and Gynecology, Campus Biomedico University, Rome, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Angioli
authors.affiliation: Department of General Surgery and Medical Surgical Specialties, University of Catania, Catania, Italy.
authors.forename: Salvatore Giovanni
authors.initials: SG
authors.lastname: Vitale
authors.affiliation: Department of Prenatal Diagnosis, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Giorlandino
keywords: Dandy-Walker; bilateral clubfoot; chromosome 1; intermediate 1q deletion syndrome; interstitial deletion