Balanced double complex translocations [46,XX,t(1p;6p;7p;3q;11p)(11q;22p;21q)] in an infant with multiple congenital anomalies.
We describe a 1-month-old female infant with balanced double complex translocations [46,XX,t(1p;6p;7p;3q;11p) (11q;22p;21q)]. She had a multiple congenital anomalies syndrome of microcephaly, unilateral corneal staphyloma, hypoplastic thumbs, ectrodactyly of the right foot, brachydactyly of the left third toe, and syndactyly between the left fourth and the fifth toes. The complex chromosome rearrangements of the patient involve 8 breakpoints, the greatest number of breakpoints in complex chromosome rearrangements of humans known to us. The 8 breakpoints are 1p22, 3q27, 6p21, 7p15, 11p15, 11q11, 21q11, and 22p11. These are not related to any confirmed fragile sites. These double complex translocations seemed to have occurred de novo.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002900:Chromosomes, Human, 1-3; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D003315:Cornea / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000235:genetics; D013577:Syndrome; D014178:Translocation, Genetic