A Familial Cri-du-Chat/5p Deletion Syndrome Resulted from Rare Maternal Complex Chromosomal Rearrangements (CCRs) and/or Possible Chromosome 5p Chromothripsis

Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes

(2013) Chih-Ping Chen et al.   GENE

Transcriptional Regulation by the Wilms Tumor Protein, Wt1, Suggests a Role of the Metalloproteinase Adamts16 in Murine Genitourinary Development

(2013) Charlotte L. J. Jacobi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A gene trap mutagenesis screen for genes underlying cellular response to the mood stabilizer lithium

(2013) Matthew Gow et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Whole exome sequencing identifies a splicing mutation inNSUN2as a cause of a Dubowitz-like syndrome

(2012) Fernando Jose Martinez et al.   JOURNAL OF MEDICAL GENETICS

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

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

(2011) Maria Roberti et al.   Orphanet Journal of Rare Diseases

Chromosome variants and abnormalities detected in 51 married couples with repeated spontaneous abortions

(2010) Paul Genest   CLINICAL GENETICS

Cri du chat syndrome: A critical review

(2010) A. Rodriguez-Caballero et al.   Medicina Oral Patologia Oral y Cirugia Bucal

A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations

(2009) Nicolas Gruchy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes

(2009) Ascensión Vera-Carbonell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion

(2009) J-S Fang et al.   CLINICAL GENETICS

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

(2008) Acácia Fernandes Lacerda de Carvalho et al.   HUMAN GENETICS

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

(2008) X.-Y. Lu et al.   PEDIATRICS