... cytogenetic aberrations associated with heterogeneous clinical features depending on the size of the deletion. Here, we describe 2 patients with overlapping de novo 2q24.2q24.3 deletions, characterized by array-CGH. This is the smallest 2q24.2q24.3 region of overlap described in the literature encompassing...

... from chromosomes 14 or 22. Oligonucleotide array-CGH using skin cells revealed no copy number variations. Studies for uniparental disomy 14 by microsatellite analysis confirmed biparental inheritance. To the best of our knowledge, this is the second report of a patient with 2 abnormal cell lines...

..., congenital heart disease, and abnormal skin pigmentations. The patient displayed iris, choroidal, and retinal coloboma and agenesis of the corpus callosum and cerebellar vermis hypoplasia. Cytogenetic analysis revealed a karyotype 45,X,der(X)t(X;14)(q24;q11)[85]/46,XX,rob(14;14)(q10;q10),+14[35]. Array-CGH...

... 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...

.... Embryonic development Gene overexpression Intellectual disability Interstitial deletion MACROD2 Array-CGH Diagnosing a complex genetic syndrome and correctly assigning the concomitant phenotypic traits to a well-defined clinical form is often a medical challenge. The heterogeneity of symptoms...

... impairment, epilepsy, autistic features, hearing loss, and obesity. Array-CGH analysis demonstrated 2 rare CNVs in both siblings: a paternally inherited microdeletion of ∼145 kb at 3p22.1, disrupting the ULK4 gene, and a maternally inherited microduplication of ∼117 kb at Xq21.1 including only the BRWD3 gene...

... is not complete since they often are inherited from a healthy parent. Using array-CGH in a cohort of 37 ASD patients, we found 2 subjects harboring a deletion inside the IMMP2L gene. In both cases, the IMMP2L gene deletion was inherited: from a healthy mother in one case and from a dyslectic father in the other...

... referred for molecular diagnostics, the frequency of such insertions was diagnosed at approximately 1:450 by array-CGH [Kang et al., 2010]. Additionally, Nowakowska et al. [2012] presented data from 14,293 patients referred for developmental abnormalities and analyzed by array-CGH. They found 477...

..., and dysmorphisms are the only clinical features common to a majority of cases. Seventeen patients have been reported so far. Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those...

...-mosaic sSMC(10) prenatally diagnosed in amniotic fluid and postnatally confirmed in peripheral blood. Characterization by array-CGH showed a pericentromeric duplication of 7.1 Mb of chromosome 10. The fetus did not show ultrasound abnormalities, and a normal female phenotype was observed during a 3-year...

... to in the content or advertisements. Fetus Ultrasound abnormalities Array-CGH Customized microarray This prospective study involved 445 women, all of whom had been referred to our prenatal diagnosis center. Prior to prenatal testing by aCGH, parents received comprehensive information about...

... and array-CGH was necessary for a complete characterization of this SRC. M-FISH revealed that the SRC originated from chromosome 7. Array-CGH performed with a 400K oligonucleotide array showed a gain in region 7q22.1q31.1 present in low mosaic. This result was confirmed by FISH using BAC probes specific...

... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Array-CGH FOXP1 Intrachromosomal insertion Proximal 3p deletion syndrome ROBO2 Constitutional interstitial deletions of the proximal short arm of chromosome 3...

... and the editor(s) disclaim 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 10q Intellectual disability Unbalanced translocation Reciprocal translocations (RTs...

...Nandita Barnabas; Jessica Sanchez; Dhananjay Chitale; Adewale Adeyinka Leiomyosarcomas (LMS) are uncommon in the female genital tract, and the literature on LMS of the vagina consists mostly of case reports. We report the cytogenetic, FISH and array-CGH findings in a LMS of the vagina. Tumor...

... 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...

... hypotheses proposed to explain the phenotypic variability characterizing this genomic disorder. In both patients, molecular investigations using FISH and array-CGH techniques revealed a 22q terminal deletion involving the 22q13.33 critical region. The size of the deletion was estimated to at least 1.35 Mb...

...T. Schmidt; I. Bartels; T. Liehr; P. Burfeind; B. Zoll; M. Shoukier Here, we report a 3-year-old boy with short stature, developmental delay and mild facial dysmorphic signs. Karyotype analysis and array-CGH revealed a pure duplication 5q22.1q23.2 with a length of 14.25 Mb. As demonstrated...

... monosomy 9p. Clinical manifestation included craniofacial abnormalities typical for trisomy 9p syndrome, developmental delay, mental retardation and brain anomaly in the form of Dandy-Walker malformation. The cytogenetic abnormality was investigated with FISH and array-CGH to characterize the breakpoints...

... or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 1q interstitial deletion Array-CGH...