... responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Array-CGH Chromosome rearrangement Karyotype Mental retardation Microdeletion Deletions of the long arm of chromosome 1 at q44 have been...

..., instructions or products referred to in the content or advertisements. Complex chromosomal rearrangements Insertion Mental retardation Multiple congenital abnormalities Chromosome 13 9p deletion Chromosomal rearrangements are structural abnormalities that include few different classes...

... to in the content or advertisements. Array-CGH Deletion 2q14.1q21.2 Duplication 2p22.3p22.2 Mental retardation Paracentric inversion Pericentric insertion Intrachromosomal insertions are uncommon rearrangements and the cytogenetic recognition of these structurally rearranged chromosomes can...

... for the 5q region. Array-CGH Duplication 5q Mental retardation Short stature Blood was taken from the index patient, his half-brothers and his parents after obtaining signed informed consent. Cytogenetic investigations were performed according to standard protocols. Briefly, metaphase...

... was identified in a 9-year-old boy with mental retardation, behavioral problems (hyperactivity, hyperphagia, and subsequent vomiting), recurrent respiratory tract infections, macrocephaly, epilepsy, and dysmorphic features. The 17.49-Mb duplication of 2p16.1–p22.1 was found in a 17-year-old girl with moderate...

... to in the content or advertisements. Multicolor chromosome banding Array-CGH 7q duplication Mental retardation FISH Intracytoplasmatic sperm injection Duplications of the long arm of chromosome 7 are very rare [Back et al., 2001]. To date, 54 cases of duplication 7q have been reported most...

...R. Hochstenbach; J.E. Buizer-Voskamp; J.A.S. Vorstman; R.A. Ophoff We review the contributions and limitations of genome-wide array-based identification of copy number variants (CNVs) in the clinical diagnostic evaluation of patients with mental retardation (MR) and other brain-related disorders...

...S. Mayo; S. Monfort; M. Roselló; C. Orellana; S. Oltra; J. Armstrong; V. Català; F. Martínez Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression...

..., seizure, delayed motor function, and severe to mild mental retardation [Wakui et al., 2002; Gijsbers et al., 2010; Lindstrand et al., 2010]. A comparison between our case and 8 other 21q monosomic patients previously reported (table 1 , fig. 4 ) showed common dysmorphic features, particularly, the down...

... and describes the phenotypes arising from a duplication and deletion of the same location at 19p13.3. 19p13.3 Array CGH ATCAY Deletion Duplication MAP2K2 Mental retardation SEMA6B Partial aberrations, such as small deletions and duplications, at chromosome 19p13 are quite rare and seldom...

... array and subtelomeric fluorescent in situ hybridisation analysis. The index patient, with mild mental retardation in combination with minor dysmorphic features, inherited the derivative chromosome 21 resulting in a partial trisomy of the short arm of chromosome 3 and a partial monosomy of the long arm...

... development and are candidates for causing mental impairment in our patients. Among our 4 patients with deletions in 17p13.1, 3 were part of a Brazilian cohort of 300 mentally retarded individuals, suggesting that this segment may be particularly prone to rearrangements and appears to be an important cause...