De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy.
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.
D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*; D014960:X Chromosome
D005819:Genetic Markers; D004247:DNA