ALAGILLE SYNDROME IN A FAMILY WITH DUPLICATION 20P11

Alagille syndrome (arteriohepatic dysplasia, AHD) is a well defined ge netic disorder with five major features: distinctive facies, cardiovas cular anomalies, paucity of interlobular bile ducts (PILED), ocular an omalies and minor skeletal malformations. Repeatedly, structural anoma lies of 20p, in most cases a deletion, have been described in patients with Alagille syndrome. We report a three generation family with AHD presenting with typical facial dysmorphology, cardiac and ocular lesio ns but without clinical signs of liver manifestation. Two infants died from a complex cardiovascular malformation consisting of pulmonary va lve Atresia, hypoplasia of the pulmonary arteries and VSD. The diagnos is was not appreciated until ocular anomalies were found in the father and the distinctive facies became apparent in the daughter. Chromosom e region 20p could not be interpreted precisely by high resolution ban ding. Using in situ hybridization a duplication 20p11.21-p11.23 was fo und segregating with the disorder in the family.