ALAGILLE SYNDROME WITH INTERSTITIAL 20P DELETION DERIVED FROM MATERNAL INS(7-20)

We present a 6-year-old Chinese boy with Alagille syndrome and an inte rstitial 20p deletion, with a karyotype of 46,XY,der(20)dir ins(7;20)( q11.23;p11.23p12.2 or p12.2p13)mat. He had a peculiar face and suffere d from congenital heart disease, growth retardation, severe cholestasi s, hepatosplenomegaly, and impaired renal function. The karyotype of h is mother showed a balanced translocation, 46,XX,dir ins(7;20)(q11.23; p11.23p12.2 or p12.2p13), and her phenotype was normal, His dead elde r brother was highly suspected as another victim of Alagille syndrome. The findings in the present family suggested that if Alagille syndrom e is a single gene defect, the putative gene responsible for the syndr ome would not be located at the insertion breakpoints but located with in the deletion extent. (C) 1996 Wiley-Liss, Inc.