title: Partial hexasomy 15pter-->15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report.
authors.forename: A
authors.initials: A
authors.lastname: Nietzel
authors.forename: B
authors.initials: B
authors.lastname: Albrecht
authors.forename: H
authors.initials: H
authors.lastname: Starke
authors.forename: A
authors.initials: A
authors.lastname: Heller
authors.forename: G
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: U
authors.initials: U
authors.lastname: Claussen
authors.forename: T
authors.initials: T
authors.lastname: Liehr
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000782:Aneuploidy; D001324:Autoantigens; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002658:Developmental Disabilities / Q000473:pathology; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology; D006391:Hemangioma / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008831:Microcephaly / Q000473:pathology; D018895:Microsatellite Repeats / Q000235:genetics*; D009136:Muscular Dystrophies / Q000473:pathology; D017689:Polydactyly / Q000473:pathology; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics*; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins