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Charcot-Marie-Tooth disease type 1A (CMT1A) is the most frequent form of CMT (also known as hereditary motor and sensory neuropathy, HMSN). The inheritance is autosomal dominant and is usually associated with a duplication at chromosome 17p11.2. This region contains the gene of the peripheral myelin protein 22 (PMP22) and an increased concentration of PMP22 seems to be responsible for neurological phenotype in patients with 17p11.2 duplication.1 Therefore, a gene dosage effect is the most likely pathogenetic mechanism for CMT1A.
Partial trisomy 17p is an unusual chromosomal disorder rarely reported in Europe, the clinical features of which have not been definitely established.2-6 Growth retardation, craniofacial anomalies, and developmental delay seem to constitute a characteristic phenotype associated with this condition.6 Moreover, the identification of patients with 17p trisomy with a uniform demyelinating neuropathy similar to that seen in patients with CMT1A, has provided further in vivo evidence supporting the gene dosage hypothesis.7-9 In this report, we describe an additional case of a child with de novo partial duplication of 17p associated with CMT1A.
A 7 year old boy was born at 41 weeks of gestation by spontaneous vaginal delivery after artificial amniorrexis. There was prenatal history of oligohydramnios. His parents were healthy and non-consanguineous and the family history for neurological or genetic diseases was negative. At the time of birth, the apgar score was 7 …