Literature DB >> 1296522

46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit.

J P Fryns1, A Kleczkowska, P Decock, G Massa, H van den Berghe.   

Abstract

In this report the authors describe an 8-year-old severely mentally retarded girl with facial features resembling the facial dysmorphism seen in patients with Alagille-Watson syndrome, severe growth retardation and a 46,XX/46,XX,del(20)(pter-->p12.2) mosaicism in fibroblasts.

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Year:  1992        PMID: 1296522

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  2 in total

1.  Segregation analysis of Alagille syndrome.

Authors:  S Dhorne-Pollet; J F Deleuze; M Hadchouel; C Bonaïti-Pellié
Journal:  J Med Genet       Date:  1994-06       Impact factor: 6.318

2.  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

  2 in total

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