The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

• Published in: Genetics in medicine Vol. 9; no. 9; pp. 607 - 616
• Main Authors: Shaffer, Lisa G, Theisen, Aaron, Bejjani, Bassem A, Ballif, Blake C, Aylsworth, Arthur S, Lim, Cynthia, McDonald, Marie, Ellison, Jay W, Kostiner, Dana, Saitta, Sulagna, Shaikh, Tamim
• Format: Journal Article
• Language: English
• Published: United States 01.09.2007
• Subjects: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, Pair 1; Cleft Palate - genetics; Genomics; Hernia, Diaphragmatic - genetics; Humans; In Situ Hybridization, Fluorescence; Intellectual Disability; Nucleic Acid Hybridization; Oligonucleotide Array Sequence Analysis; Syndrome

The advent of molecular cytogenetic technologies has altered the means by which new microdeletion syndromes are identified. Whereas the cytogenetic basis of microdeletion syndromes has traditionally depended on the serendipitous ascertainment of a patient with established clinical features and a chr...