Coincidence of paternal 13pYq translocation and maternal increased 13p NOR activity in a child with arthrogryposis and other malformations.
Cytogenetic examination of a boy with congenital multiple arthrogryposis, VSD and dysmorphic facies revealed a probable t(Y; 13)(q?; p1) translocation and three NOR-positive dots on one of the chromosomes 13. The latter variant could be followed in the family of the mother, the 13/Y translocation was found in the relatives of the father. Since all the family members affected by one or the other cytogenetic anomaly were healthy, the abnormal phenotype of the propositus was interpreted as coincidence by chance.
D000328:Adult; D001176:Arthrogryposis / Q000235:genetics*; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009697:Nucleolus Organizer Region / Q000378:metabolism*; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014998:Y Chromosome