Dear Editor, Williams-Beuren Syndrome (WBS) is a rare genetic disorder. The first cases of WBS were described by Williams et al. in 1961 and Beuren et al. in 1962 independently. Williams reported on a group of children with supravalvular aortic stenosis (SVAS), dysmorphic facies and mental retardation.

Introduction: array comparative genomic hybridization (CGH) has been developed that allows a more detailed examination of the genome when compared with a standard chromosome analysis. array comparative genomic hybridization (CGH) is a new and exciting diagnostic tool represents a major technological step forward in cytogenetic testing and addresses many of the limitations of current cytogenetic methods. Conventional chromosome analysis, FISH and QF-PCR rapidly detect common chromosomal abnormalities but do not provide a genome wide screen for unexpected imbalances In contrast, array CGH analysis simultaneously evaluates regions across the entire genome and allows for detection of unbalanced structural and numerical chromosome abnormalities of less than one hundred kb.Materials and Methods: Fifteen fetuses ongoing pregnancies and fifteen pathogen children were studied by array CGH on targeted BAC-arrays and oligoarray.Results: all Fifteen fetuses and children were successfully by array-CGH identified and comprised with conventional karyotyping.In the 9/15 foetus ware healthy In the 5 case were found trisomy 21, 18 and 13 in 1 case unbalanced translocation 7p; 9p that were also subjected to conventional karyotyping. All fifteen pathogen Children were identified all chromosomal abnormality and microdeletions like in 1p36.33, and 22q.11 chromosomal region that were not found by conventional karyotyping which were confirmed by FISH.Conclusion: This study demonstrates the feasibility of prenatal genetic diagnosis using BAC-array CGH analysis for direct analysis of amniocytes without culturing cells and Amplification. This new method replaces conventional cytogenetics, FISH and in many cases to Multiplex-PCR for Mutation less than 100 kb in the great majority of prenatal and postnatal diagnosis cases. Furthermore, the direct analysis allows for rapid array CGH results and shorter reporting time.

Velo-cardio-facial syndrome (VCFS) is caused by a submicroscopic deletion on the long arm of chromosome 22 and affects approximately 1 in 4000 persons, making it the second most prevalent genetic syndrome after Down syndrome and the most common genetic syndrome associated with cleft palate. Most of the 22q11.2 deletion cases are new occurrences or sporadic, however, in about 10 % of families, the deletion is inherited and other family members are affected or at risk for passing this deletion to their children.This report describes a 1.5 years-old male child with clinical signs of velo-cardio-facial syndrome (VCFS) presented with heart defect, soft cleft palate, developmental delay, acrocephaly, seizure, MRI abnormalities and descriptive facial feature, such as hypertelorism.array-CGH test was done to confirm the diagnosis, the result revealed a 2.6 Mbp deletion in 22q11.2 chromosome that containing TBX1and COMT genes. Our data suggest that haploinsufficiency of TBX1 gene is probably a major contributor to some of the syndrome characteristic signs, such as heart defect. Because of developmental delay and dysmorphic facial feature were observed in the index's mother and relatives, inherited autosomal dominant form of VCF is probable, and MLPA (multiplex ligation-dependent probe amplification) test should be performed for parents to estimate the recurrent risk in next pregnancy.

We developed several FISH approaches to enable preimplantation genetic diagnosis of cancer predisposition syndromes. An overview of the applications and the results of those PGDs will be provided. In addition we developed several novel tools to genome wide screen for CNVs and SNPs in single cells. Those technologies are now being applied for polar body, blastomere and blastocyst screening for chromosomal imbalances. An overview of the current status of the technology will be provided. We further adapted and applied those genome wide approaches for the detection of chromosomal disorders. Both the challenges and the solutions to enable single cell genome wide CNV detection will be presented. Finally, I will show where and how the technology is ready for clinical implementation.

Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include specific craniofacial malformations, delayed growth and development, intellectual disability and seizures. Here, we report a case of WHS: a 27-month-old girl with a microdeletion at distal part of short arm of chromosome 4. She had striking clinical features of WHS and had an apparently normal karyotype. array comparative genomic hybridization performed on the DNA extracted from peripheral blood revealed loss of 1.7Mb at 4q16.3-q15.3. Taken together, this data suggests that a patient with strong clinical suspicion of chromosome abnormality and normal conventional karyotype analysis should be further evaluated by molecular cytogenetic techniques such as array comparative genomic hybridization (aCGH) or fluorescence in situ hybridization (FISH).