INTERSTITIAL DELETION OF 8P - REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE

Two female infants with de novo interstitial deletions of 8p were stud ied. One with a deletion from p11.21 to p11.23, and the other patient with a deletion from p11.23 to p21.3 had several clinical manifestatio ns of the terminal 8p- syndrome. Band 8p11.23 was deleted in both pati ents. The clinical manifestations common to both patients included low birthweight, growth deficiency, congenital heart disease, mental reta rdation, dolichocephaly, low-set, malformed ears, high-arched palate, thin lips and micrognathia. Since these features may occur in most pat ients with chromosomal imbalance, and the terminal 8p- syndrome has hi therto been assumed to result from terminal deletions of 8p, ranging f rom p21.3 to p23, it is likely that these features are simply related to the chromosomal imbalance rather than to band specific imbalance of 8p11.23. The present study suggests that two different types of delet ion, interstitial and terminal, are associated with still poorly defin ed, rather non-specific clinical features.