title: [Major malformation syndrome and apparently balanced chromosomal abnormality: holoprosencephaly and 5p; 12q translocation].
abstract: Observation of holoprosencephaly associated to chromosomic aberration (balanced translocation 5p; 12q); genetic council may be difficult in case of familial translocation.
authors.affiliation: Clinique médicale infantile et des maladies infectieuses, Hôpital Saint-Antoine, Lille.
authors.forename: J
authors.initials: J
authors.lastname: Cousin
authors.forename: C
authors.initials: C
authors.lastname: Creusy
authors.forename: M F
authors.initials: MF
authors.lastname: Croquette
authors.forename: G
authors.initials: G
authors.lastname: Vittu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D016135:Spinal Dysraphism / Q000235:genetics*; D014178:Translocation, Genetic
vernacular_title: Syndrome malformatif majeur et anomalie chromosomique apparemment équilibrée: holoprosencéphalie et translocation 5p; 12q.