• DONG Guanping ,
  • WU Wei ,
  •  LIU Lijun
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  • Department of Endocrinology, The Children's Hospital, ZheJiang University School of Medicine, Hangzhou 310052, Zhejiang, China

Received date: 2018-04-15

  Online published: 2018-04-15

Abstract

Objective To explore the clinical phenotype and pathogenesis of ring chromosome 4. Method The clinical data of a child with short stature as the main manifestation of ring chromosome 4 were retrospectively analyzed, and the related literature was reviewed. Results A girl aged 10 years and 11 months visited for short stature and had webbed neck and widely spaced nipples, no obvious mental retardation and other deformities, and growth hormone was normal. A ring chromosome 4, 46, XX, r (4) (p16q35), was found by chromosome karyotype analysis. Conclusion Clinicians need to be vigilant about the possibility of cyclic chromosomes in children with dwarfism, and karyotype analysis helps to confirm the diagnosis.

Cite this article

DONG Guanping , WU Wei ,  LIU Lijun . [J]. Journal of Clinical Pediatrics, 2018 , 36(4) : 249 . DOI: 10.3969/j.issn.1000-3606.2018.04.003

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