Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies

Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing

(2015) M. J. Macera et al.   PRENATAL DIAGNOSIS

Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient

(2014) Julie Plaisancié et al.   European Journal of Medical Genetics

Further delineation of novel 1p36 rearrangements by array-CGH analysis: Narrowing the breakpoints and clarifying the “extended” phenotype

(2012) Krinio Giannikou et al.   GENE

Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith-Magenis syndrome by Vieira and colleagues

(2011) Agatino Battaglia   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome

(2011) Gustavo H. Vieira et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

(2011) Philip J. Stephens et al.   CELL

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

(2011) Pengfei Liu et al.   CELL

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

(2011) Wigard P. Kloosterman et al.   HUMAN MOLECULAR GENETICS

Complex chromosomal rearrangements: origin and meiotic behavior

(2011) F. Pellestor et al.   HUMAN REPRODUCTION UPDATE

An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH

(2009) Joke Allemeersch et al.   BMC BIOINFORMATICS

Complex human chromosomal and genomic rearrangements

(2009) Feng Zhang et al.   TRENDS IN GENETICS

Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation

(2008) Emily Chen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

(2008) A. Battaglia et al.   PEDIATRICS