Pericentric enversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001789:Blood Group Antigens; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D003434:Crossing Over, Genetic; D005149:Facial Expression; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008540:Meiosis; D010375:Pedigree; D010641:Phenotype
D001789:Blood Group Antigens