Translocation/duplication of 9p onto a duplicated 4q.
A 5-month-old girl with the classical dysmorphism of the 9p trisomy syndrome and a severe heart defect was found to have an unbalanced translocation of 9pter-->p22 onto q35 of a chromosome 4 with an inverted duplication of q32-->q35. This concurrence of two de novo rearrangements suggests that the breakpoint at 4q35 not only participated in the translocation but also predisposed to the segmental duplication of 4q.
Rivera
H
H
División de Genetica, Instituto Mexicano del Seguro Social, Guadalajara.
Figuera
L E
LE
Vasquez
A I
AI
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D002899:Chromosomes, Human, Pair 9; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*