"Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation

A girl with a new de novo translocation of 4q onto the short arm of acrocentric 22 is reported as a case of "pure" partial trisomy 4q. Her karyotype was 46, XX,-22, +mar, t(4;22)(q25-->qter;p11) identified by Giemsa staining and FISH. Comparison of the proband with previously reported cases of "pure" partial trisomy 4q showed the main clinical features to be growth retardation, psychomotor retardation, microcephaly, large, low set, malformed ears, prominent nasal bridge, ptosis and epicanthus.