Summary
A 2-year-old girl with r(22) syndrome is presented. High-resolution banding technique and silver staining of nucleolus organizing regions (NORs) were used to define its breakpoints. The breakpoint in the long arm was verified to locate at most distal segment (q13.3) by G-and R-bandings. The breakpoint in the short arm was verified to locate at p13, because the r(22) had an almost normal NOR compared to normal homolog 22. The karyotype was designated as 46,XX,r(22) (q13q13.3). Origin of the ring(22) was estimated to be of paternal by an analysis of Q-band heteromorphism.
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Naritomi, K., Hirayama, K. Determination of the breakpoints and the parental origin of a ring 22 chromosome: An analysis by high-resolution banding technique, quinacrine and silver stainings. Jap J Human Genet 33, 67–73 (1988). https://doi.org/10.1007/BF01891242
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DOI: https://doi.org/10.1007/BF01891242