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, 155A(8), pp. 1964-8. 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.

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Service Sector > Institute of Legal Medicine > Forensic Molecular Biology 04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic, Interventional and Paediatric Radiology 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine 04 Faculty of Medicine > Department of Gastro-intestinal, Liver and Lung Disorders (DMLL) > Clinic of Visceral Surgery and Medicine > Gastroenterology 04 Faculty of Medicine > Medical Education > Institute of General Practice and Primary Care (BIHAM)
UniBE Contributor:	Lieder, Ludmilla; Wolf, Rainer Walter; Steinlin, Maja; Wiest, Reiner; Bonel, Harald Marcel; Schaller, André; Gallati, Sabina and Conrad, Bernard
ISSN:	1552-4825
Publisher:	Wiley-Liss
Language:	English
Submitter:	Anette van Dorland
Date Deposited:	04 Oct 2013 14:22
Last Modified:	20 Jul 2022 10:02
Publisher DOI:	10.1002/ajmg.a.33210
PubMed ID:	21739569
Web of Science ID:	000294088100024
URI:	https://boris.unibe.ch/id/eprint/7616 (FactScience: 212915)