Summary
The single X chromosome of a girl with Turner syndrome 45,X and typical Duchenne muscular dystrophy was investigated at the chromosomal and DNA levels. No visible abnormality of the residual X chromosome was found upon high-resolution R-banding. The DNA was analysed by Southern blotting and hybridization with seven cloned probes mapping in the Xp21 region where the Duchenne locus is thought to be located. A molecular deletion was detected with probes pERT 87.1, pERT 87.8, and pERT 87.15. The other probes (754, C7, 99.6, and RC8) gave a normal signal. The DNA alleles seen in the two parents indicated that the deletion found in the propositus had occurred de novo on a maternal X chromosome.
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Chelly, J., Marlhens, F., Le Marec, B. et al. De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy. Hum Genet 74, 193–196 (1986). https://doi.org/10.1007/BF00282093
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DOI: https://doi.org/10.1007/BF00282093