StudyType	PubMedID	Author	Title	Journal	PublishDate	Chromosome	Disease	Technology	Species	CaseID	Platform	CNA	Connection	Gene	Affiliation	Abstract	GenomeAssembly	GEO	dbGaP	ENA	IsCancer	FusionGene
Research	27216161	Del Rey J, Santos M, Gonzalez-Meneses A, Mila M, Fuster C	Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q	Cytogenet Genome Res	2016	2	Congenital abnormality	Array CGH	Homo sapiens	27216161_case					Unitat de Biologia Celx00B7;lular i Genx00E8;tica Mx00E8;dica, Facultat de Medicina, Universitat Autx00F2;noma de Barcelona, Barcelona, Spain	Complex chromosome rearrangements (CCRs) are unusual structural chromosome alterations found in humans, and to date only a few have been characterized molecularly. New mechanisms, such as chromothripsis, have been proposed to explain the presence of the CCRs in cancer cells and in patients with congenital disorders and/or mental retardation. The aim of the present study was the molecular characterization of a constitutional CCR in a girl with multiple congenital disorders and intellectual disability in order to determine the genotype-phenotype relation and to clarify whether the CCR could have been caused by chromosomal catastrophic events. The present CCR was characterized by G-banding, high-resolution CGH, multiplex ligation-dependent probe amplification and subtelomeric  q-FISH analyses. Preliminary results indicate that the de novo CCR is unbalanced showing a  q .  deletion and  q q .  partial trisomy. Our patient shows some of the typical traits and intellectual disability described in patients with  q  deletion and also in carriers of  q q .  partial trisomy; thus, the clinical disorders could be explained by additional effects of both chromosome alterations (deletions and duplications). A posterior, sequential FISH study using BAC probes revealed the unexpected presence of at least   different reorganizations affecting  q q . , suggesting the existence of chromosome instability in this region. The present CCR is the first case described in the literature of heterogeneity of unbalanced CCRs affecting a small region of  q, indicating that the mechanisms involved in constitutional chromosome rearrangement may be more complex than previously thought.	GRCh37/hg19				No