Phenotypic clues & karyotype: A combined study of mental retardation - Bakshi, Sonal; Kunwar, Fulesh
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Majority of human congenital disorders include mental retardation as a common manifestation. It was observed that little is done for diagnostic work up of such patients as the condition is perceived as incurable. We would like to emphasize that naming the disorder is important for better patient management, genetic counselling, and risk assessment in future progeny. In order to bridge the gap an attempt was made using constitutional chromosome analysis aided with detailed phenotypic characterization to get a primary clue for the underlying condition. The web-based software POSSUM served as…mehr

Produktbeschreibung
Majority of human congenital disorders include mental retardation as a common manifestation. It was observed that little is done for diagnostic work up of such patients as the condition is perceived as incurable. We would like to emphasize that naming the disorder is important for better patient management, genetic counselling, and risk assessment in future progeny. In order to bridge the gap an attempt was made using constitutional chromosome analysis aided with detailed phenotypic characterization to get a primary clue for the underlying condition. The web-based software POSSUM served as having a clinical expert in our team of post graduate student researchers. This book will also serve as a ready reference for a fresher in the field of cytogenetics with detailed description of methodology.
Autorenporträt
Dr. Sonal R. Bakshi,Assistant Professor at Institute of Science, Nirma University, Ahmedabad, India. Long-term association with leukemia chromosomal studies and in vitro genotoxicity assessment, one of the current research areas is genetic characterization of congenital disorders. Fulesh Kunwar, a research scholar initiated in human cytogenetics.