del Mazo J, Abrisqueta J A, Pérez-Castillo A, Aller V, Lucas M A, de Torres M L, Martín M J
Hum Genet. 1978 Oct 19;44(1):105-8. doi: 10.1007/BF00283580.
A new case of ring chromosome 4 in a 2-day-old female child with multiple malformations is described. By means of the GTG-banding technique, a karyotype 46,XX,r(4), (p16 leads to q35) was determined. The characteristics of the child's karyotype and the relationship with the structure of the chromosome, especially the location of the deletion that produces the syndrome, are compared with previous reports.