Abstract: Objective　To explore the relationship between the missing fragments in ring chromosome 6 and the clinical phenotype. Method　A male patient with concealed penis was reported. The relationship between the location of missing fragments and the clinical phenotypes was analyzed by routine chromosome karyotype and genome-wide chromosome microarray technology. Meanwhile, the literature was reviewed. Results　The patient was diagnosed of a ring chromosome 6 by karyotype analysis. Genome chromosome microarray detection showed that there were defects in both the short arm and the end of the long arm of chromosome 6, del6p25.3p25.1.seq[GRCh37/hg39]（204909-4210858）×1, del6q27.seq[GRCh37/hg39] （170438227-170898549）×1. A 4.01 Mb deletion was found in short arm P25 region, involving 30 genes such as DUSP22, IRF4, EXOC2, HUS1B, LOC285768, FOXQ1, FOXF2 and FOXC1, while another 0.46 Mb deletion was found in the long arm 6q27 region, involving 7 genes such as LOC154449, DLL1, FAM120B, PSMB1, TBP and PDCD2. According to analysis of the results in the patient and literature review, we found that all the patients suffered from neurological or developmental disorders, but external genital anomaly was seen in only two patients, including this patient. Conclusion The different clinical phenotypes in patients with a ring chromosome 6 are closely associated with the location and size of deletion and instability of ring chromosome.