CYTOGENETIC AND CLINICAL FINDINGS IN A PATIENT WITH A DELETION OF 16Q23.1 - FIRST REPORT OF BILATERAL CATARACTS AND A 16Q DELETION

The most commonly reported manifestations of 16q deletions are severe growth and developmental disorders and anomalies of the craniofacial, visceral, and musculoskeletal systems. We reviewed the findings of pat ients reported with 16q-syndrome and compared them to our patient, a 4 1/2-year-old boy with a deletion of 16q23.1, Findings include psychom otor retardation, hypotonia, high forehead, hypertelorism, upslanting palpebral fissures, low-set abnormally modeled ears, and talipes equin ovarus. Anomalies present in our patient not reported in others with 1 6q-syndrome include bilateral cataracts, iris coloboma, and autistic-l ike behavior, It is of note that a locus for autosomal dominant congen ital cataract, known as Marner cataract, was mapped previously to 16q2 2. Because our patient has bilateral cataracts and a unilateral iris c oloboma, it seems likely that a gene involved in ocular development is located within 16q23.1. Our patient's deletion may also include the g ene involved in Marner cataract and may further assist in the isolatio n of this gene. (C) 1997 Wiley-Liss, Inc.