Introduction: Microdeletions in the chromosomal region 2q34 and its neighboring regions lead to a phenotypic spectrum including autism, intellectual disability, and epilepsy. Up to now, only few affected patients have been reported. Therefore, the genetic pathogenesis is not completely understood. One of the most discussed candidate genes in this context is MAP2, a gene responsible for microtub...

Fluorescence in situ hybridization (FISH) has facilitated the detection of microdeletions seen in PraderWilli/Angelman (PW/AS), Williams and DiGeorge syndromes. Out of 374 suspected cases tested at Jaslok Hospital in the past 5 years, 73 were positive, including 29 cases of Angelman, 16 of Prader-Willi, 24 of Williams and 4 of DiGeorge syndrome. Male preponderance was seen, mainly in Williams s...

BACKGROUND About 5% of patients with neurofibromatosis type 1 (NF1) bear constitutional microdeletions that encompass NF1 (neurofibromin 1) and neighboring genes. These patients are characterized by the development of a high number of dermal neurofibromas (dNFs), mental retardation, and an increased risk of developing a malignant peripheral nerve sheath tumor (MPNST). Additionally, 10% of somat...

Tetralogy of Fallot (TOF), (OMIM #187500) one the first known congenital heart disease (CHDs) with a rising frequency adult patients, is suitable paradigm for our analysis given expanding abundance genetic data available and these clinical consequences. Given complexity cardiac development, it has been associated untreated maternal diabetes, intake retinoic acid, phenylketonuria, chromosomal an...