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Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20)

โœ Scribed by Li, Pi-Hsien; Shu, San-Ging; Yang, Ching-Hwa; Lo, Feng-Chu; Wen, Mei-Chin; Chi, Ching-Shiang

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
23 KB
Volume
63
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

W e 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;pll.23p12.2 or p12.2pl3)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 p12.2~13), and her phenotype was normal. His dead elder brother was highly suspected as another victim of Mag ille 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.

๐Ÿ“œ SIMILAR VOLUMES

Deletions of 20p12 in Alagille syndrome:
Deletions of 20p12 in Alagille syndrome: Frequency and molecular characterization
โœ Krantz, Ian D.; Rand, Elizabeth B.; Genin, Anna; Hunt, Piper; Jones, Marilyn; Lo ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 324 KB

Alagille syndrome is an autosomal dominant disorder comprising cholestasis (associated with intrahepatic bile duct paucity), characteristic facial appearance, and cardiac, ocular and skeletal defects. Multiple patients have been reported with deletions or translocation involving 20p11.23-p12, provid