Partial hexasomy 15pter-->15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report.
Nietzel
A
A
Albrecht
B
B
Starke
H
H
Heller
A
A
Gillessen-Kaesbach
G
G
Claussen
U
U
Liehr
T
T
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
D001324:Autoantigens; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins