Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome

Velo-cardio-facial syndrome (VCFS) is the most common microdeletion syndrome in humans. It occurs with an estimated frequency of 1 in 4,000 live births. Most cases occur sporadically, indicating that the deletion is recurrent in the population. More than 90% of patients with VCFS and a 22q11 deletio...

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Veröffentlicht in:	American journal of human genetics 1999-04, Vol.64 (4), p.1076-1086
Hauptverfasser:	Edelmann, Lisa, Pandita, Raj K., Morrow, Bernice E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Base Sequence Biological and medical sciences Chromosome 22q11 Chromosome Breakage - genetics Chromosome Deletion Chromosomes, Human, Pair 22 - genetics Complex syndromes DiGeorge Syndrome - genetics DNA Fingerprinting Female Genetic Markers - genetics Genetic Predisposition to Disease Haplotypes - genetics High resolution mapping Humans In Situ Hybridization, Fluorescence Low copy repeats Male Medical genetics Medical sciences Microdeletion syndrome Multigene Family - genetics Pedigree Physical Chromosome Mapping Pseudogenes - genetics Rearrangement disorders Recombination, Genetic - genetics Repetitive Sequences, Nucleic Acid - genetics Sequence Homology, Nucleic Acid Syndrome Velo-cardio-facial syndrome
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