✦ LIBER ✦

The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2

✍ Scribed by Jessica E. Hoogendijk; Gerard W. Hensels; Ina Zorn; Linda Valentijn; Emiel A. M. Janssen; Marianne Visser; David F. Barker; Bram W. Ongerboer de Visser; Frank Baas; Pieter A. Bolhuis

Publisher: Springer
Year: 1991
Tongue: English
Weight: 723 KB
Volume: 88
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00206075

No coin nor oath required. For personal study only.

✦ Synopsis

Recently, it has been shown that Charcot-Marie-Tooth disease type 1a (CMT1a) is linked with a duplication of a DNA segment that is detected by probe VAW409R3, and that is located on chromosome 17p11.2. Here, we show that this duplication also contains VAW412R3a, but not A10-41 and EW503. Accounting for the duplication in recombination analysis, we found recombinants between CMT1a and EW301 and EW502, but not with A10-41, VAW409R3, and VAW412R3. Using pulsed-field gel electrophoresis analysis, we estimated the minimal size of the duplicated region in CMT1a patients to be 1100 kb.

📜 SIMILAR VOLUMES

Patients homozygous for the 17p 11.2 dup

Patients homozygous for the 17p 11.2 duplication in charcot-marie-tooth type 1A Disease

✍ Dr E. LeGuern; R. Gouider; D. Mabin; S. Tardieu Bs; N. Birouk; P. Parent; P. Bou 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 540 KB

Charcot-Marie-Tooth disease 1A (CMT1A) a

Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12

✍ M. Upadhyaya; S. H. Roberts; J. Farnham; J. C. MacMillan; A. Clarke; J. P. Heath 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 340 KB

We report here the second case of Charcot-Marie-Tooth disease 1A (CMT1A) with a cytogenetically visible de novo direct duplication of 17p11.1-->17p12. A male child who was initially referred for developmental delay and dysmorphism was subsequently shown to have significantly reduced motor nerve cond

Clinical and pathological correlations i

Clinical and pathological correlations in charcot–marie–tooth neuropathy type 1A with the 17p11.2p12 duplication: A cross-sectional morphometric and immunohistochemical study in twenty cases

✍ Gian Maria Fabrizi; Alessandro Simonati; Michela Morbin; Tiziana Cavallaro; Fede 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 566 KB

In a cross-sectional, clinical, and morphometric analysis we assessed the correlation between the clinical and pathological evolution of disease in 20 unrelated patients of various ages affected by Charcot-Marie-Tooth neuropathy type 1A (CMT1A) with the 17p11.2p12 (peripheral myelin protein 22, PMP2