Twin girls with deletion 1p13.3----22.3 are reported. They are characterised by psychomotor retardation, short stature, narrowing of the external auditory meati and abnormalities of the digits. A high resolution analysis revealed the karyotype to be: 46,XX,-1,-4,-9,-18, +der(1)t(1:9) (p22.3;q13)inv(1)(p13.2:q25) del (1)(p13.3----22.3)t(4:18)(4qter----4q32::18q22----1 8qter; 18qter----18q22::4q32----4qter). A phenotype-karyotype correlation study of this case and three others did not support the delineation of a distinct syndrome.
Adult Chromosome Aberrations