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Open Access Short report

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

Malgorzata I Srebniak*, Marjan Boter, Carla MA Verboven-Peerden, Gerda AG Looye-Bruinsma, Gretel Oudesluijs, Robert-Jan H Galjaard and Diane Van Opstal

Author Affiliations

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Dr Molewaterplein 50, 3015 GE, the Netherlands

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Molecular Cytogenetics 2011, 4:27  doi:10.1186/1755-8166-4-27

Published: 2 December 2011

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 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.

Keywords:
18p11.32 deletion; 18p11.32 duplication; submicroscopic abnormality; normal phenotype; MLPA; SNP array