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Difference between revisions of "Cytogenetics Review Questions"
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{{hidden|List 5 microdeletion syndromes.|[[List of Microdeletion Syndromes]]}} | {{hidden|List 5 microdeletion syndromes.|[[List of Microdeletion Syndromes]]}} | ||
{{hidden|Briefly describe William's Syndrome.|Deletion of one elastin allele (7q11.23 = 96% of cases), multi-system d/o characterized by: Growth & developmental delay, characteristic facies & personality, supra valvular stenosis, idiopathic infantile hypercalcemia (connective tissue / vascular)}} | {{hidden|Briefly describe William's Syndrome.|Deletion of one elastin allele (7q11.23 = 96% of cases), multi-system d/o characterized by: Growth & developmental delay, characteristic facies & personality, supra valvular stenosis, idiopathic infantile hypercalcemia (connective tissue / vascular)}} | ||
{{hidden|Briefly describe Williams Syndrome.|Deletion of one elastin allele (7q11.23 = 96% of cases), multi-system d/o characterized by: Growth & developmental delay, characteristic facies & personality, supra valvular stenosis, idiopathic infantile hypercalcemia (connective tissue / vascular)}} | |||