title: Report of a mother and daughter with the 12q14 microdeletion syndrome.
abstract: The 12q14 microdeletion syndrome is characterized by microcephaly, short stature, osteopoikilosis, weight deficiency, and learning disabilities. We report on a mother and daughter with a 12q14 microdeletion. To our knowledge these are the first reported familial cases with the syndrome. We also discuss the genes in the deleted area that may be contributing to the phenotype.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA. a.l.bibb@emory.edu
authors.forename: Audrey L
authors.initials: AL
authors.lastname: Bibb
authors.forename: Jill A
authors.initials: JA
authors.lastname: Rosenfeld
authors.forename: David D
authors.initials: DD
authors.lastname: Weaver
mesh_terms: D057215:Body Dysmorphic Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005260:Female; D006801:Humans; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009035:Mothers; D009679:Nuclear Family; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods