Literature DB >> 2074558

Alagille syndrome and deletion of 20p.

F Anad1, J Burn, D Matthews, I Cross, B C Davison, R Mueller, M Sands, D M Lillington, E Eastham.   

Abstract

We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. Included in our series is the first report of familial transmission of a 20p deletion.

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Year:  1990        PMID： 2074558      PMCID： PMC1017275          DOI： 10.1136/jmg.27.12.729

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  14 in total

1.  Deletion of the short arms of chromosome 20.

Authors:  D K Kalousek; S Thérien
Journal:  Hum Genet       Date:  1976-09-10       Impact factor: 4.132

2.  Deletion of the short arm of chromosome 20.

Authors:  A M Vianna-Morgante; A Richieri-Costa; C Rosenberg
Journal:  Clin Genet       Date:  1987-06       Impact factor: 4.438

3.  Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease.

Authors:  G H Watson; V Miller
Journal:  Arch Dis Child       Date:  1973-06       Impact factor: 3.791

4.  Monosomy 20p due to a de novo del(20)(p12.2). Clinical and radiological delineation of the syndrome.

Authors:  D García-Cruz; H Rivera; L O Barajas; M Jiménez-Sáinz; Z Nazará; J Sánchez-Corona; H Durón-Huerta; C García-Ochoa; J M Cantú
Journal:  Ann Genet       Date:  1985

5.  A partial short arm deletion of chromosome 20:46, XY, del(20)(p11).

Authors:  K Kogame; T Fukuhara; A Maeda; Y Kudo
Journal:  Jinrui Idengaku Zasshi       Date:  1978-06

6.  Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism.

Authors:  M C Silengo; G Lopez Bell; M Biagioli; P Franceschini
Journal:  Clin Genet       Date:  1988-02       Impact factor: 4.438

7.  Arteriohepatic dysplasia: phenotypic features and family studies.

Authors:  R F Mueller; R A Pagon; M G Pepin; J E Haas; I Kawabori; J G Stevenson; M J Stephan; J D Blumhagen; D L Christie
Journal:  Clin Genet       Date:  1984-04       Impact factor: 4.438

8.  Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members.

Authors:  S A Shulman; J S Hyams; R Gunta; R M Greenstein; S B Cassidy
Journal:  Am J Med Genet       Date:  1984-10

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

Authors:  E Legius; J P Fryns; B Eyskens; E Eggermont; V Desmet; G de Bethune; H Van den Berghe
Journal:  Am J Med Genet       Date:  1990-04

10.  Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.

Authors:  D Alagille; A Estrada; M Hadchouel; M Gautier; M Odièvre; J P Dommergues
Journal:  J Pediatr       Date:  1987-02       Impact factor: 4.406
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  21 in total

Review 1.  Genetic, environmental, and epigenetic factors involved in CAKUT.

Authors:  Nayia Nicolaou; Kirsten Y Renkema; Ernie M H F Bongers; Rachel H Giles; Nine V A M Knoers
Journal:  Nat Rev Nephrol       Date:  2015-08-18       Impact factor: 28.314

2.  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

3.  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

4.  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 5.  Alagille syndrome.

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

6.  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

7.  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

Review 8.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

9.  20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.

Authors:  S R Lalani; J V Thakuria; G F Cox; X Wang; W Bi; M S Bray; C Shaw; S W Cheung; A C Chinault; B A Boggs; Z Ou; E K Brundage; J R Lupski; J Gentile; S Waisbren; A Pursley; L Ma; M Khajavi; G Zapata; R Friedman; J J Kim; J A Towbin; P Stankiewicz; S Schnittger; I Hansmann; T Ai; S Sood; X H Wehrens; J F Martin; J W Belmont; L Potocki
Journal:  J Med Genet       Date:  2008-09-23       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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