Dear Editor, 9p duplication syndrome is characterized by craniofacial dysmorphism, digital abnormalities, short stature, short neck, developmental delay, and mental retardation [1]. It can also accompany rare phenotypes including cardiac defect [2, 3], psychotic behavior [4], autism spectrum disorder (ASD) [5], and hearing loss [6]. Phenotypes of 9p duplication correlate with the size and posit...

17p13 is a chromosomal region characterized by genomic instability due to high gene density leading multiple deletion and duplication events. 17p13.3 microduplication syndrome rare condition, reported only in 40 cases worldwide, which found the Miller–Dieker region, presenting wide range of phenotypic manifestations. Usually, duplicated area de novo varies size from 1.8 4.0 Mbp. Critical genes ...

A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third o...

Charcot-Marie-Tooth (CMT) disease is the most frequent inherited neuropathy, affecting 1/1500 to 1/10000. CMT1A represents 60%-70% of all CMT and caused by a duplication on chromosome 17p11.2 leading an overexpression Peripheral Myelin Protein 22 (PMP22). PMP22 gene under tight regulation small changes in its expression influences myelination affect motor sensory functions. To date, treatment s...

Partial trisomy of the long arm of chromosome 19q is an uncommon aneusomy and has been reported in only 18 cases. Fourteen of these were the result of unbalanced translocations. Only four cases were the result of pure duplications. The phenotype described includes microcephaly, heart malformations, anomalies of the genitourinary tract or gastrointestinal system, and growth retardation. Developm...

Cytogenetic changes that occur during the progression of rat hepatocarcinogenesis were assessed with three rat liver epithelial cell lines derived from WB cells. Previously characterized WBneo, WBras, and WBrasIIa cells were grown in culture and analyzed for structural and numerical chromosomal integrity by banded karyotype analysis. The WBneo cells had a low level of aneuploidy with a consiste...

Structural autosome defects have rarely been described in autism. In this report, the authors describe the association of autism and mental retardation in a girl with mosaicism for a duplication of the long arm of chromosome 18 and a deletion of the short arm of chromosome 18.