Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage–fusion–bridge cycles are involved in generating terminal deletions

• Published in: Human molecular genetics Vol. 12; no. 17; pp. 2153 - 2165
• Main Authors: Ballif, Blake C., Yu, Wei, Shaw, Chad A., Kashork, Catherine D., Shaffer, Lisa G.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.09.2003; Oxford Publishing Limited (England)
• Subjects: Animals; Base Sequence; Biological and medical sciences; Cell Fusion; Chromosome aberrations; Chromosome Breakage; Chromosome Deletion; Chromosome Disorders - diagnosis; Chromosome Disorders - genetics; Chromosomes, Human, Pair 1 - genetics; Cricetinae; Cytogenetic Analysis; Diseases of the osteoarticular system; Gene Duplication; Humans; In Situ Hybridization, Fluorescence; Medical genetics; Medical sciences; Meiosis; Models, Genetic; Molecular Sequence Data; Monosomy - diagnosis; Monosomy - genetics; Nucleic Acid Hybridization; Repetitive Sequences, Nucleic Acid - genetics; Sequence Homology, Nucleic Acid; Telomere - genetics; Tumors of striated muscle and skeleton; Chromosomal aberration; Human; Breakpoint; Chromosome A1; Deletion; Aneuploidy; Mutation; Complex syndrome; Mental retardation; Terminal repeated sequence; Telomere; Monosomy

Terminal deletions of 1p36 result in a mental retardation syndrome that is presumably caused by haploinsufficiency of a number of genes. Although monosomy 1p36 is the most commonly observed terminal deletion syndrome in humans, the molecular mechanism(s) that generates and stabilizes terminal deleti...