Partial trisomy 8: trisomy of the distal part of the long arm of chromosome number 8 plus (8q2) in a severely retarded and malformed girl.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure; D003394:Craniofacial Dysostosis / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D010641:Phenotype; D013194:Staining and Labeling; D014314:Trisomy