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 ac rocentric 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 b y 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, microceph aly, large, low set, malformed ears, prominent nasal bridge, ptosis an d epicanthus.