title: Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies.
abstract: A new patient with the rare ICF syndrome (immunodeficiency, centromeric heterochromatin instability, and facial anomalies) is reported. The six patients previously reported in the literature are reviewed. The main clinical and cytogenetic characteristics of the syndrome are discussed.
authors.affiliation: U.173 INSERM-Cytogénétique Humaine et Comparée, Hôpital Necker-Enfants-Malades, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Turleau
authors.forename: M O
authors.initials: MO
authors.lastname: Cabanis
authors.forename: D
authors.initials: D
authors.lastname: Girault
authors.forename: F
authors.initials: F
authors.lastname: Ledeist
authors.forename: R
authors.initials: R
authors.lastname: Mettey
authors.forename: H
authors.initials: H
authors.lastname: Puissant
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: J
authors.initials: J
authors.lastname: de Grouchy
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D002503:Centromere; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002875:Chromosomes; D002878:Chromosomes, Human, Pair 1; D005145:Face / Q000002:abnormalities*; D005260:Female; D006570:Heterochromatin; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000151:congenital* / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011379:Prognosis; D013577:Syndrome
chemical_list: D006570:Heterochromatin