title: Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?
abstract: BACKGROUND
  ICF syndrome (standing for Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNA-methyltransferase 3B (DNMT3B). However, in the literature similar clinical cases without such mutations are reported, as well.
  
  
  RESULTS
  We report on a family in which the unrelated spouses had two female siblings sharing similar phenotypic features resembling ICF-syndrome, i.e. congenital abnormalities, immunodeficiency, developmental delay and high level of chromosomal instability, including high frequency of centromeric/pericentromeric rearrangements and breaks, chromosomal fragments despiralization or pulverization. However, mutations in DNMT3B could not be detected.
  
  
  CONCLUSIONS
  The discovery of a new so-called 'chromatin disorder' is suggested. Clinical, molecular genetic and cytogenetic characteristics are reported and compared to other 'chromatin disorders'.
authors.affiliation: National Medical Center "Mother and Child", Orlovska Street 66, 220053 Minsk, Republic of Belarus. polityko@yahoo.com.
authors.forename: Anna
authors.initials: A
authors.lastname: Polityko
authors.forename: Olga
authors.initials: O
authors.lastname: Khurs
authors.forename: Natalia
authors.initials: N
authors.lastname: Rumyantseva
authors.forename: Irina
authors.initials: I
authors.lastname: Naumchik
authors.forename: Nadezda
authors.initials: N
authors.lastname: Kosyakova
authors.forename: Holger
authors.initials: H
authors.lastname: Tönnies
authors.forename: Karl
authors.initials: K
authors.lastname: Sperling
authors.forename: Heidemarie
authors.initials: H
authors.lastname: Neitzel
authors.forename: Anja
authors.initials: A
authors.lastname: Weise
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr