We describe a case with molecular duplication of chromosome 17 (p11.2-p12) whose duplicated chromosome was inherited from a mosaic father. The patient has clinical manifestations consistent with Charcot-Marie-Tooth disease type 1A (CMT1A), while the mosaic father has minimal findings of CMT1A. The father was found to be homozygous with DNA markers VAW409R3A (D17S122) and p132G8RI (PMP-22) which...

Charcot-Marie-Tooth disease type-1A (CMT1A) is one of the most common types of inherited peripheral nerve diseases. It is caused by the trisomy of chromosome 17p12 (c17p12), a large DNA segment of 1.4 Mb containing PMP22 plus eight other genes. The size of c17p12 is formidable for any cloning technique to manipulate, and thus precludes production of models in vitro and in vivo that can precisel...

Charcot-Marie-tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA markers within this interval revealed a duplication that is completely linked and associated with CMT1A. The duplication was demonstrated in affected individuals by the presence of three alleles at a highly polymorphic locus, by dosage differences at RFLP alleles, and by ...

Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy with a genetic locus on chromosome 17p11.2. The majority of patients carry a duplicated DNA segment that encompasses the gene PMP22, which encodes a peripheral myelin protein. PMP22 is the crucial gene involved in the pathogenesis of CMT1A. Molecular diagnosis of CMT1A requires detection of this duplicated segment...

and sensory neuropathy characterized by similar phenotype despite genetic heterogeneity1. Charcot-Marie-Tooth type 1A, linked to a ~1.4 Mb duplication containing the peripheral myelin protein-22 gene on chromosome 17p11.2, accounts for ~50% of all CMT patients2-6. Disease severity varies considerably in CMT1A, however, the prototypical phenotype involves weakness and atrophy of distal limb musc...

Introduction. Central nervous system involvement, either clinical or subclinical, has been reported mainly in X-linked Charcot-Marie-Tooth (CMT-X) patients. Case Presentation. We present the case of a 31-year-old man with a genetically confirmed history of CMT1A who developed CNS involvement mimicking multiple sclerosis (MS). Clinical, imaging, and laboratory findings suggested an autoimmune CN...

Background Clinical features of CharcoteMarieeTooth disease type 1A (CMT1A) include slowly progressive distal muscle weakness, atrophy and sensory loss. Upper-limb involvement results in reduced manual dexterity interfering with the execution of daily activities. Objective To identify which hand function impairments are determinants of manual dexterity in CMT1A. Methods In a cross-sectional, ob...

Electron microscopic examination was performed to compare morphologic changes of nonmyelinating Schwann cells and unmyelinated axons in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) with peripheral myelin protein 22 duplication (n = 27) and normal control individuals (n = 14). Complete transverse sural nerve cross-sections were obtained in 16 patients and the total number of axons a...

Rearrangements in 17p11.2, responsible for the 1.5 Mb duplications and deletions associated, respectively, with autosomal dominant Charcot-Marie-Tooth type 1A disease (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are a suitable model for studying human recombination. Rearrangements in 17p11.2 are caused by unequal crossing-over between two homologous 24 kb sequence...

An 8 year old girl with partial duplication of the short arm of chromosome 17 had a mosaic 46,XX,der(17)?del(17)(p12)dup(17) (p11.2p12).ish dup(17)(p11.2p13.3)(D17S 379x2, p53x2, D17S122x2, D17S29+) karyotype. The extent of mosaicism was 20% in lymphoblasts and 100% in fibroblasts. Fluorescence in situ hybridisation (FISH) proved invaluable in defining the abnormality precisely. The cytogenetic...