A FEMALE-PATIENT WITH PARTIAL DUPLICATION-22(Q13-]QTER)

We report on a 9-month-old female patient with pre- and postnatal grow th retardation, hypertelorism, bilateral cleft lip and palate, and a p eripheral pulmonary stenosis. High resolution banding and fluorescent in situ hybridization (FISH) revealed a de novo partial trisomy 22q13- qter. We compare the clinical findings to published patients with this rare chromosomal aberration and discuss the chromosomal differential diagnosis. Facial features at first sight suggestive of Wolf-Hirschhor n syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q. Clin Dysmorphol 7: 289-294 (C) 1998 Lippincott Williams & Wilkins.