Literature DB >> 5738524

[Case of a mentally retarded and polymalformed child whose karyotype shows the presence of a small mediocentric extra chromosome].

P Beyer, J V Ruch, Y Rumpler, J Girard.   

Abstract

Entities:  

Mesh：

Year:  1968        PMID： 5738524

Source DB:  PubMed          Journal:  Pediatrie        ISSN： 0031-4021


× No keyword cloud information.
  7 in total

1.  Tertiary partial 14 trisomy 47, XX, plus 14q minus.

Authors:  J P Fryns; J J Cassiman; H Van den Berghe
Journal:  Humangenetik       Date:  1974

2.  Multiple anomalies associated with an extra small metacentric chromosome: modified Giemsa stain results.

Authors:  W Tangheroni; A Cao; M Furbetta
Journal:  Humangenetik       Date:  1973

3.  A newborn with the cat-eye syndrome.

Authors:  J P Fryns; E Eggermont; H Veresen; H Van den Berghe
Journal:  Humangenetik       Date:  1972

4.  The aetiology of the cat eye syndrome reconsidered.

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

Review 5.  [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].

Authors:  J Kunze; M Tolksdorf; H R Wiedemann
Journal:  Humangenetik       Date:  1975

6.  Significance of detection of extra metacentric microchromosome in amniotic cell culture.

Authors:  R Bernstein; C Hakim; B Hardwick; G T Nurse
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

7.  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
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.