Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21->q25)

Abstract

We present a patient with an interstitial deletion of the chromosome 1q21->q25 that was diagnosed by amniocentesis. Significant malformations included: microbrachycephaly, bilateral cleft lip and palate, micrognathia, short neck, and athyroidia. The autopsy results demonstrate an overlap with several other postnatally ascertained patients and document the phenotype prenatally.