Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis.

Abstract

A 2-year-old boy, whose clinical abnormalities included growth retardation(3rd percentile), mild mental retardation (DQ = 67), microcephaly, hypertelorism, strabismus, prominent nasal bridge, stubby nose, pointed chin, undescended testes and hydronephrosis, had a ring chromosome 10. Using high-resolution banding technique, the breakpoints were decided at p15.3 and q26.3 of chromosome 10. The clinical features observed in this case were common in 8 other cases with ring chromosome 10 previously reported. Thus, the terminal deletion of both arms of chromosome 10 seems to be the cause of the specific clinical abnormalities. When a patient has the clinical common abnormalities above mentioned, ring chromosome 10 syndrome will be suspected before chromosome analysis.

• Authors: I Kondo, Y Shimakura, T Hirano, M Kaneko, K Yabuta
• Journal: Clinical genetics (Clin Genet) Vol. 25 Issue 2 Pg. 196-200 (Feb 1984) ISSN: 0009-9163 [Print] Denmark
• PMID: 6705254 (Publication Type: Case Reports, Journal Article)

Topics

• Child, Preschool
• Chromosome Aberrations (diagnosis, pathology)
• Chromosome Disorders
• Chromosomes, Human, 6-12 and X (ultrastructure)
• Growth Disorders (etiology)
• Humans
• Hydronephrosis (etiology)
• Intellectual Disability (etiology)
• Male
• Phenotype