Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality

Nicoulaz, A; Rubi, F; Lieder, L; Wolf, R; Goeggel-Simonetti, B; Steinlin, M; Wiest, R; Bonel, H M; Schaller, A; Gallati, S; Conrad, B (2011). Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality. American journal of medical genetics. Part A, 155(8), pp. 1964-1968. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.33210

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Monosomy 1p36 results from heterozygous deletions of the terminal short chromosome 1 arm, the most common terminal deletion in humans. The microdeletion is split in two usually non-overlapping and clinically distinct classical distal and proximal 1p36 monosomy syndromes. Using comparative genome hybridization, MLPA and qPCR we identified the largest contiguous ∼16 Mb terminal 1p36 deletion reported to date. It covers both distal and proximal regions, causes a neonatally lethal variant with virtually exclusive features of distal 1p36 monosomy, highlighting the key importance of the gene-rich distal region for the "compound" 1p36 phenotype and a threshold deletion-size effect for haplo-lethality.

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