De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy

✍ Scribed by J. Chelly; F. Marlhens; B. Marec; M. Jeanpierre; M. Lambert; G. Hamard; B. Dutrillaux; J. -C. Kaplan

• Book ID: 104702915
• Publisher: Springer
• Year: 1986
• Tongue: English
• Weight: 382 KB
• Volume: 74
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00282093

✦ Synopsis

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.