title: Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality.
abstract: 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.
authors: Division of Human Genetics, Bern University Children's Hospital, Bern, Switzerland.
authors: A
authors: A
authors: Nicoulaz
authors: F
authors: F
authors: Rubi
authors: L
authors: L
authors: Lieder
authors: R
authors: R
authors: Wolf
authors: B
authors: B
authors: Goeggel-Simonetti
authors: M
authors: M
authors: Steinlin
authors: R
authors: R
authors: Wiest
authors: H M
authors: HM
authors: Bonel
authors: A
authors: A
authors: Schaller
authors: S
authors: S
authors: Gallati
authors: B
authors: B
authors: Conrad
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D001927:Brain Diseases / Q000235:genetics; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D056726:Genetic Association Studies; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D006831:Polyhydramnios / Q000175:diagnosis; D011247:Pregnancy; D047928:Premature Birth; D012131:Respiratory Insufficiency / Q000175:diagnosis; D012688:Septum Pellucidum / Q000002:abnormalities