Literature DB >> 302682

[Ring of the chromosome 4. II. Without facial dysmorphism].

F Chavin-Colin, C Turleau, J M Limal, J de Grouchy.   

Abstract

A r(4) was observed in a 5-year-old female patient, with growth retardation, a near normal psychomotor development and with no major dysmorphism. The break points were in p16 and q33. After comparison with other known observations of r(4) it is suggested that the phenotype of monosomy 4p is due to monosomy for the distal band 4p16.

Entities:  

Mesh：

Year:  1977        PMID： 302682

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


  4 in total

1.  Partial deletion of 4p16 band in a ring chromosome and Wolf Syndrome.

Authors:  J del Mazo; J A Abrisqueta; A Pérez-Castillo; V Aller; M A Lucas; M L de Torres; M J Martín
Journal:  Hum Genet       Date:  1978-10-19       Impact factor: 4.132

2.  Inheritance of a ring 14 chromosome.

Authors:  S B Riley; K E Buckton; S G Ratcliffe; J Syme
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

3.  Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)].

Authors:  M G Wilson; J W Towner; G S Coffin; A J Ebbin; E Siris; P Brager
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review.

Authors:  César Paz-Y-Miño; Ana Proaño; Stella D Verdezoto; Juan Luis García; Jesús María Hernández-Rivas; Paola E Leone
Journal:  BMC Med Genomics       Date:  2019-11-21       Impact factor: 3.063
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.