A 46,XY,r(10) karyotype was found in lymphocytes and skin fibroblasts cultured from a 8-month-old male showing multiple malformations and severe mental retardation. A comparison of the clinical features observed in cases in which a 10 ring was identified by means of banding techniques has been also attempted.
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Simoni, G., Rossella, F., Dalprà, L. et al. Ring chromosome 10 Associated with multiple congenital malformations. Hum Genet 51, 117–121 (1979). https://doi.org/10.1007/BF00287164
- Internal Medicine
- Metabolic Disease
- Mental Retardation
- Congenital Malformation
- Skin Fibroblast