INTERSTITIAL DELETIONS 4Q21.1Q25 AND 4Q25Q27 - PHENOTYPIC VARIABILITYAND RELATION TO RIEGER ANOMALY

We describe clinical and chromosomal findings in two patients with del (4q). Patient 1, with interstitial deletion (4)(q21.1q25), had craniof acial and skeletal anomalies and died at 8 months of hydrocephalus. Pa tient 2, with interstitial deletion (4)(q25q27), had craniofacial and skeletal anomalies with congenital hypotonia and developmental delay. These patients shared certain manifestations with other del(4q) patien ts but did not have Rieger anomaly. Clinical variability among patient s with interstitial deletions of 4q may be related to variable express ion, variable deletion, or imprinting of genes within the 4q region. ( C) 1995 Wiley-Liss, Inc.