Familial pericentric inversion (14) (p11;q24) with a rec dup(q) in one offspring.
A new case of pericentric inversion (14) is presented with the breakpoints in p11q24. The same breakpoints have not been described previously. Within the family there is one daughter having a rec(14)dup(q) besides healthy carriers.
D000015:Abnormalities, Multiple / Q000235:genetics*; D007446:Chromosome Inversion; D002901:Chromosomes, Human, 13-15; D003394:Craniofacial Dysostosis / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D011596:Psychomotor Disorders / Q000235:genetics; D011995:Recombination, Genetic; D014314:Trisomy