Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20)
- Taichung Veterans General Hospital, Taiwan (China); and others
We present a 6-year-old Chinese boy with Alagille syndrome and an interstitial 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 suffered from congenital heart disease, growth retardation, severe cholestasis, hepatosplenomegaly, and impaired renal function. The karyotype of his 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 elder brother was highly suspected as another victim of Alagille syndrome. The findings in the present family suggested that if Alagille syndrome is a single gene defect, the putative gene responsible for the syndrome would not be located at the insertion breakpoints but located within the deletion extent. 18 refs., 5 figs.
- OSTI ID:
- 478395
- Journal Information:
- American Journal of Medical Genetics, Vol. 63, Issue 4; Other Information: PBD: 28 Jun 1996
- Country of Publication:
- United States
- Language:
- English
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