Reflecting the enormous changes that have taken place in our knowledge and understanding of developmental disorders, this groundbreaking international volume brings this vast and complex field together for the first time. The editors have collected together the world’s leading academic scholars and clinicians, to explore how current research across a range of different disciplines can inform academic knowledge and clinical practice and help to improve the lives of individuals and their families.The SAGE Handbook of Developmental Disorders is a central reference in the field for all academics, researchers, clinicians and advanced students involved in the study of developmental disorders, including those in clinical psychology, child psychiatry, child mental health, child genetics and pediatrics, speech language pathology, and developmental disabilities and special education.

Velo-Cardio-Facial Syndrome/22q11 Deletion Syndrome

Velo-Cardio-Facial Syndrome/22q11 Deletion Syndrome

Velo-cardio-facial syndrome/22q11 deletion syndrome
FrederickSundram, Kieran C.Murphy

Brief Historical Perspective

Velocardiofacial syndrome (VCFS) is the most common human genetic deletion syndrome and is associated with deletions in chromosome 22. VCFS was once considered a rare congenital disorder but since the advent of molecular genetics, this view has now been countered. In 1992, a major breakthrough occurred in the study of VCFS and disorders related to chromosome 22 when deletions were specifically localized to the long arm of chromosome 22 (22q11) (Scambler et al., 1992). Subsequently, several reports followed which confirmed the microdeletion in chromosome 22 (Driscoll et al., 1992; Kelly et al., 1993). Tremendous interest in the syndrome still continues today as it is a complex disorder that affects essentially every organ system in ...

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