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

[img] Text
American_J_of_Med_Genetics_Pt_A_-_2011_-_Nicoulaz.pdf - Published Version
Restricted to registered users only
Available under License Publisher holds Copyright.

Download (1MB) | Request a copy

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)


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, Conrad, Bernard








Anette van Dorland

Date Deposited:

04 Oct 2013 14:22

Last Modified:

02 Aug 2023 10:32

Publisher DOI:


PubMed ID:


Web of Science ID:




URI: (FactScience: 212915)

Actions (login required)

Edit item Edit item
Provide Feedback