Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome.
Tuschl
Karin
K
Biochemical and Paediatric Genetics, Department of General Paediatrics, University Children's Hospital, Medical University Vienna, Vienna, Austria.
Fritz
Barbara
B
Herle
Marion
M
Fonatsch
Christa
C
Bodamer
Olaf A
OA
D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities*; D004827:Epilepsy / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*