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.

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Keywords 18p11.32 deletion, 18p11.32 duplication, MLPA, SNP array, normal phenotype, submicroscopic abnormality
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Journal Molecular Cytogenetics
Srebniak, M, Boter, M, Verboven-Peerden, C.M.A, Looye-Bruinsma, G.A.G, Oudesluijs, G.G, Galjaard, R-J.H, & van Opstal, D. (2011). Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect. Molecular Cytogenetics (Vol. 4). doi:10.1186/1755-8166-4-27