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.

Findings/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

SUBMITTER: Srebniak MI 

PROVIDER: S-EPMC3287247 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature