Literature DB >> 3740100

del(20p) with manifestations of arteriohepatic dysplasia.

J L Byrne, M J Harrod, J M Friedman, P N Howard-Peebles.   

Abstract

A small-for-gestational age white female infant was noted to have multiple minor anomalies and severe jejunal stenosis. Mild peripheral pulmonic stenosis, skeletal anomalies, and cholestasis with paucity of intrahepatic bile ducts were observed, and she was diagnosed as having arteriohepatic dysplasia. Chromosome analysis of peripheral blood leukocytes showed a 46,XX,del(20)(p11.2) chromosome constitution.

Entities:  

Mesh：

Year:  1986        PMID： 3740100     DOI： 10.1002/ajmg.1320240411

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  23 in total

Review 1.  Alagille syndrome: pathogenesis, diagnosis and management.

Authors:  Peter D Turnpenny; Sian Ellard
Journal:  Eur J Hum Genet       Date:  2011-09-21       Impact factor: 4.246

Review 2.  Alagille syndrome and deletion of 20p.

Authors:  F Anad; J Burn; D Matthews; I Cross; B C Davison; R Mueller; M Sands; D M Lillington; E Eastham
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

3.  Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.

Authors:  C Desmaze; J F Deleuze; A M Dutrillaux; G Thomas; M Hadchouel; A Aurias
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

4.  Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

Authors:  I D Krantz; R P Colliton; A Genin; E B Rand; L Li; D A Piccoli; N B Spinner
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

5.  Alagille syndrome: family studies.

Authors:  F V Elmslie; A J Vivian; H Gardiner; C Hall; A P Mowat; R M Winter
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

Review 6.  Alagille syndrome.

Authors:  I D Krantz; D A Piccoli; N B Spinner
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

7.  Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes.

Authors:  J F Deleuze; S Dhorne; J Hazan; E Borghi; N Raynaud; N Pollet; M Meunier-Rotival; J Deschatrette; D Alagille; M Hadchouel
Journal:  Mamm Genome       Date:  1994-11       Impact factor: 2.957

8.  Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.

Authors:  N B Spinner; E B Rand; P Fortina; A Genin; R Taub; A Semeraro; D A Piccoli
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

9.  Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report of two further cases associated with paucity of interlobular bile ducts.

Authors:  J C Lambert; M C Saint-Paul; F Bastiani; V Paquis; A M Saunieres
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

10.  SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.

Authors:  Binita M Kamath; Brian D Thiel; Xiaowu Gai; Laura K Conlin; Pedro S Munoz; Joseph Glessner; Dinah Clark; Daniel M Warthen; Tamim H Shaikh; Ercan Mihci; David A Piccoli; Struan F A Grant; Hakon Hakonarson; Ian D Krantz; Nancy B Spinner
Journal:  Hum Mutat       Date:  2009-03       Impact factor: 4.878
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