title: Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.
abstract: In this review we describe the various types of chromosomal abnormalities found in the distal short arm of the human X chromosome and the most common clinical features associated with each type, emphasizing the underlying molecular mechanisms. The study of these patients has significant implications for identifying the disease genes involved.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: G
authors.initials: G
authors.lastname: Andria
mesh_terms: D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004303:Dosage Compensation, Genetic; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008957:Models, Genetic; D010641:Phenotype; D014178:Translocation, Genetic; D014960:X Chromosome