title: First fetal case of the 8q24.3 contiguous genes syndrome.
abstract: Molecular cytogenetics, particularly array-CGH, opened the way to the « genotype first approach » and for the discovery of new micro rearrangement syndromes. This was the case for the 8q24.3 microdeletion syndrome. Here, we describe the phenotype of a fetus with a 8q24.3 deletion. This rare condition has to be considered as a contiguous genes syndrome because its phenotype is generated by the SCRIB and PUF60 adjacent gene endophenotypes. The fetus presented atrioventricular septal defect and hypoplastic aortic arch, facial dysmorphism, microretrognathia, dysmorphic ears, clinodactyly of the 5th digit on both hands, mild rocker bottom feet and abnormal third sacral vertebra. This fetus is the first case where the endophenotype produced by SCRIB gene is absent. This case is compared with the previous published cases.
authors.affiliation: Department of Histology-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
authors.forename: Constance
authors.initials: C
authors.lastname: Wells
authors.affiliation: Department of Histology-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France.|Department of Obstetrics and Maternal-Fetal Medicine, Necker-Enfants Malades Hospital, AP-HP, Paris, France.|University Paris Descartes, Sorbonne Paris-Cité, Paris, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Spaggiari
authors.affiliation: Department of Histology-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France.|University Paris Descartes, Sorbonne Paris-Cité, Paris, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Malan
authors.affiliation: Department of Obstetrics and Maternal-Fetal Medicine, Necker-Enfants Malades Hospital, AP-HP, Paris, France.|University Paris Descartes, Sorbonne Paris-Cité, Paris, France.
authors.forename: Julien J
authors.initials: JJ
authors.lastname: Stirnemann
authors.affiliation: Department of Histology-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France.|University Paris Descartes, Sorbonne Paris-Cité, Paris, France.
authors.forename: Tania
authors.initials: T
authors.lastname: Attie-Bitach
authors.affiliation: Department of Obstetrics and Maternal-Fetal Medicine, Necker-Enfants Malades Hospital, AP-HP, Paris, France.|University Paris Descartes, Sorbonne Paris-Cité, Paris, France.
authors.forename: Yves
authors.initials: Y
authors.lastname: Ville
authors.affiliation: Department of Histology-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France.|University Paris Descartes, Sorbonne Paris-Cité, Paris, France.
authors.forename: Michel
authors.initials: M
authors.lastname: Vekemans
authors.affiliation: Department of Histology-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
authors.forename: Bettina
authors.initials: B
authors.lastname: Bessieres
authors.affiliation: Department of Histology-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France.|University Paris Descartes, Sorbonne Paris-Cité, Paris, France.
authors.forename: Serge
authors.initials: S
authors.lastname: Romana
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D037881:Aborted Fetus / Q000002:abnormalities*; D000328:Adult; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007621:Karyotyping; D008565:Membrane Proteins / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017384:Sequence Deletion / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C480591:SCRIB protein, human; D025521:Tumor Suppressor Proteins
keywords: PUF60; SCRIB; del 8q24; prenatal array-CGH