Difference between revisions of "Cytogenetics Review Questions"

Cytogenetics Review Questions (view source)

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 {{hidden|List 7 applications of FISH technology?| 1) Microdeletion syndromes, 2) Characterization of chromosomal structural abnormalities, 3) identification of marker chromosomes, 4) Aneuploidy detection, 5) Cancer cytogenetics, 6) Gene mapping, 7)Rapid detection of sex chromosomes and the SRY gene}}
 {{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 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)}}
-{{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)