A 19-year-old mentally and physically retarded male with multiple congenital malformations was found to have a ring configuration of No. 7 chromosome by Giemsa-banding technique. Comparison of the phenotypes with previously reported 2 cases with rings of chromosome 7 shows that the only features in common in these 3 are microcephaly, short stature and hemangioma on the forehead.
His mother showed some structural aberrations of chromosomes in the peripheral lymphocytes. Cytogenetic significance and mother-child relationship of these findings are discussed.
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Nakano, S., Miyamoto, N. A ring C7 chromosome in a mentally and physically retarded male with various somatic abnormalities. Jap J Human Genet 22, 33–41 (1977). https://doi.org/10.1007/BF01908283
- Cancer Research
- Short Stature
- Congenital Malformation
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