Literature DB >> 2773997

Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I.

Y Yamamoto1, N Oguro, M Miyao, M Yanagisawa, T Ohsawa.   

Abstract

Prometaphase chromosome analysis was undertaken in a patient with familial tricho-rhino-phalangeal syndrome type I (TRPS-I). The patient had apparently normal chromosomes and produced counterevidence to part of Bühler's hypothesis. Thus, although some cases of typical TRPS-I may be derived from a deletion of 8q24.12, others might be caused by gene mutation or submicroscopic deletion involving the corresponding locus within the band 8q24.11----24.13.

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Year:  1989        PMID： 2773997     DOI： 10.1002/ajmg.1320320420

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


  2 in total

1.  Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Authors:  H J Lüdecke; J Schaper; P Meinecke; P Momeni; S Gross; H Hirche; M J Abramowicz; B Albrecht; C Apacik; H J Christen; U Claussen; K Devriendt; E Fastnacht; A Forderer; U Friedrich; T H Goodship; M Greiwe; H Hamm; R C Hennekam; G K Hinkel; M Hoeltzenbein; H Kayserili; F Majewski; M Mathieu; R McLeod; A T Midro; U Moog; T Nagai; N Niikawa; K H Orstavik; E Plöchl; C Seitz; J Schmidtke; L Tranebjaerg; M Tsukahara; B Wittwer; B Zabel; G Gillessen-Kaesbach; B Horsthemke
Journal:  Am J Hum Genet       Date:  2000-12-07       Impact factor: 11.025

2.  Trichorhinophalangeal syndrome type 1: A case report with literature review.

Authors:  Ramesh Candamourty; Suresh Venkatachalam; B Karthikeyan; M R Ramesh Babu
Journal:  J Nat Sci Biol Med       Date:  2012-07
  2 in total

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