Literature DB >> 2333885

Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)

E Legius1, J P Fryns, B Eyskens, E Eggermont, V Desmet, G de Bethune, H Van den Berghe.   

Abstract

We report on a boy with Alagille syndrome. Chromosome analysis on a peripheral blood lymphocyte culture showed a de novo deletion of the short arm of chromosome 20 with a 46,XY,del(20)(p11.2) chromosome constitution. This is the second report of a del(20p) in a patient with Alagille syndrome. The possible localisation of this autosomal dominant syndrome on 20p is discussed.

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Year:  1990        PMID： 2333885     DOI： 10.1002/ajmg.1320350419

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


  9 in total

Review 1.  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

2.  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

Review 3.  Alagille syndrome.

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

4.  Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.

Authors:  E B Rand; N B Spinner; D A Piccoli; P F Whitington; R Taub
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

5.  Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.

Authors:  Ryan Humphreys; Wei Zheng; Lawrence S Prince; Xianghu Qu; Christopher Brown; Kathleen Loomes; Stacey S Huppert; Scott Baldwin; Steven Goudy
Journal:  Hum Mol Genet       Date:  2011-12-08       Impact factor: 6.150

6.  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

7.  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

8.  Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.

Authors:  F A Hol; B C Hamel; M P Geurds; I Hansmann; F A Nabben; O Daniëls; E C Mariman
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

9.  Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies.

Authors:  Shahzaib Khattak; Meryam Jan; Sara Warsi; Sohail Khattak
Journal:  Case Rep Genet       Date:  2020-07-11
  9 in total

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