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Chromosome 4q Deletion Syndrome: A Clinical and Research Perspective (Rare Genomics Institute & RareShare)

Publication date: 27 Feb 2017

Associated community Chromosome 4q Deletion Syndrome

This e-book was compiled by the RG Scientific Analyst Team, which consists of highschool and undergrad students from across Canada: Megan Chan, Roberto Fedrigo, Jessica Fung, Dororthy Qian, Chuheng Xing, Mathew Yip and Sharmin Yousef-Led by Henry He and Supervised by Deepa Kushwaha, PhD, Scientific Director


Chromosome 4q Deletion Syndrome is a rare chromosomal disorder that affects approximately 1 in 100,000 people. It is characterized by the deletion of a portion of the 4th chromosome long arm, either in the middle of the chromosome arm (“interstitial”) or at the end (“terminal”). Chromosome 4q Deletion Syndrome has varying effects, but is typically associated with intellectual disability, craniofacial dysmorphism, rotated or low-set ears, cleft palate (CP), and other symptoms. It may be diagnosed through a variety of techniques, including karyotyping testing and fluorescent leveled in situ hybridization technique (FISH). Since the effects of Chromosome 4q Deletion Syndrome come in a wide spectrum, the resulting lifestyles of patients can range widely. There is currently no cure for the disorder; however, growth hormones and diets with dairy may be recommended for patients, depending on the individual condition.