Literature DB >> 6694188

Cat eye syndrome owing to tetrasomy 22pter leads to q11.

G N Wilson, D L Baker, J Schau, J Parker.   

Abstract

A case of tetrasomy 22pter leads to q11 with ocular hypertelorism, downward slanting palpebral fissures, total anomalous pulmonary venous return, and anal atresia is described. The phenotypic variability of the cat eye syndrome is emphasised along with the need for categorisation of these patients according to well characterised cytogenetic findings.

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Mesh：

Year:  1984        PMID： 6694188      PMCID： PMC1049210          DOI： 10.1136/jmg.21.1.60

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


  8 in total

1.  CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.

Authors:  G SCHACHENMANN; W SCHMID; M FRACCARO; A MANNINI; L TIEPOLO; G P PERONA; E SARTORI
Journal:  Lancet       Date:  1965-08-07       Impact factor: 79.321

2.  The origin and behavior of two isodicentric bisatellited chromosomes.

Authors:  D L Van Dyke; L Weiss; M Logan; G S Pai
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

3.  Duplication of distal 11q and 22p occurrence in two unrelated families.

Authors:  T M Najafzadeh; K W Dumars
Journal:  Am J Med Genet       Date:  1981

4.  Visualization of nucleolar organizer regions im mammalian chromosomes using silver staining.

Authors:  C Goodpasture; S E Bloom
Journal:  Chromosoma       Date:  1975-11-20       Impact factor: 4.316

5.  The aetiology of the cat eye syndrome reconsidered.

Authors:  G Guanti
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

6.  Trisomy 22 with 'cat eye' anomaly.

Authors:  J Cervenka; C A Hansen; R A Franciosi; R J Gorlin
Journal:  J Med Genet       Date:  1977-08       Impact factor: 6.318

7.  Silver staining of the supernumerary chromosome in the cat-eye syndrome.

Authors:  P Petit; S Godart; J P Fryns
Journal:  Ann Genet       Date:  1980

8.  The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Authors:  A Schinzel; W Schmid; M Fraccaro; L Tiepolo; O Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; R Tenconi; R A Pagon
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  8 in total
  3 in total

Review 1.  Human chromosome 22.

Authors:  J C Kaplan; A Aurias; C Julier; M Prieur; M F Szajnert
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

2.  Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation.

Authors:  P Patracchini; E Calzolari; V Aiello; P Palazzi; P Banin; G Marchetti; F Bernardi
Journal:  Hum Genet       Date:  1989-10       Impact factor: 4.132

3.  Functional annotation of proteome encoded by human chromosome 22.

Authors:  Sneha M Pinto; Srikanth S Manda; Min-Sik Kim; KyOnese Taylor; Lakshmi Dhevi Nagarajha Selvan; Lavanya Balakrishnan; Tejaswini Subbannayya; Fangfei Yan; T S Keshava Prasad; Harsha Gowda; Charles Lee; William S Hancock; Akhilesh Pandey
Journal:  J Proteome Res       Date:  2014-04-29       Impact factor: 4.466
  3 in total

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