De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy |
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Authors: | J. Chelly F. Marlhens B. Le Marec M. Jeanpierre M. Lambert G. Hamard B. Dutrillaux J. -C. Kaplan |
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Affiliation: | (1) INSERM U 129, Institut de Pathologie Moléculaire, CHU Cochin Port-Royal, 24, rue de Faubourg Saint-Jacques, F-75014 Paris, France;(2) UA 620 CNRS, Institut Curie, 26, rue d'Ulm, F-75231 Parix Cédex 05, France;(3) Centre Hospitalo-Universitaire, Hôpital de Pontchaillou, F-35000 Rennes, France |
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Abstract: | 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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