title: Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect.
abstract: BACKGROUND
  Recent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland) and microarray technology allows detection of a wide range of new submicroscopic abnormalities. Publishing new cases and case reviews associated with both clinical abnormalities and a normal phenotype is of great value.
  
  
  RESULTS
  We report on two phenotypically normal foetuses carrying a maternally-inherited interstitial submicroscopic abnormality of chromosome 18p11.32. Both abnormalities were found with the aneuploidy MLPA kit P095 during rapid aneuploidy detection, which was offered along with conventional karyotyping. Foetus 1 and its mother have a 1,7 Mb deletion and foetus 2 and its mother have a 1,9 Mb duplication. In both cases normal babies were born. We used the HumanCytoSNP-12 array of Illumina to visualize the CNVs and map the breakpoints.
  
  
  CONCLUSIONS
  We suggest that a CNV at 18p11.32 (528,050-2,337,486) may represent a new benign euchromatic variant.
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Dr Molewaterplein 50, 3015 GE, the Netherlands. m.srebniak@erasmusmc.nl.
authors.forename: Malgorzata I
authors.initials: MI
authors.lastname: Srebniak
authors.forename: Marjan
authors.initials: M
authors.lastname: Boter
authors.forename: Carla Ma
authors.initials: CM
authors.lastname: Verboven-Peerden
authors.forename: Gerda Ag
authors.initials: GA
authors.lastname: Looye-Bruinsma
authors.forename: Gretel
authors.initials: G
authors.lastname: Oudesluijs
authors.forename: Robert-Jan H
authors.initials: RJ
authors.lastname: Galjaard
authors.forename: Diane
authors.initials: D
authors.lastname: Van Opstal