Literature DB >> 1308363

Alagille syndrome with de novo del(20) (p11.2).

A S Teebi1, D S Murthy, E A Ismail, A A Redha.   

Abstract

We report on an Arab boy with Alagille syndrome and a de novo deletion of the short arm of chromosome 20 with a 46,XY, del(20)(p11.2) chromosome constitution. Other reported cases are briefly reviewed.

Entities:  

Mesh：

Year:  1992        PMID： 1308363     DOI： 10.1002/ajmg.1320420109

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


  9 in total

1.  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 2.  Alagille syndrome.

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

3.  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

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

5.  [Endocrinologic and metabolic complications of Alagille syndrome].

Authors:  L C Hofbauer; A Mrozek-Lasota; T Jelinek; H D Schworm; D Zimmermann; A E Heufelder
Journal:  Med Klin (Munich)       Date:  1997-09-15

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.  Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.

Authors:  Maki Igarashi; Vu Chi Dung; Erina Suzuki; Shinobu Ida; Mariko Nakacho; Kazuhiko Nakabayashi; Kentaro Mizuno; Yutaro Hayashi; Kenjiro Kohri; Yoshiyuki Kojima; Tsutomu Ogata; Maki Fukami
Journal:  PLoS One       Date:  2013-07-08       Impact factor: 3.240
  9 in total

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