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→18qter; 18qter→18q22::4q32→4qter). A phenotype‐karyotype correlation study of this case and three others did not support the delineation of a distinct syndrome.
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