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Difference between revisions of "Cytogenetics Review Questions"
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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 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|List 5 microdeletion syndromes.|[[List of Microdeletion Syndromes]]}} | ||
{{hidden|Briefly describe Cri-du Chat Syndrome|}} | |||
{{hidden|Describe 3 mechanisms by which uniparental disomy occurs.|1) Trisomic rescue (loss of a chromosome from a trisomic zygote), 2) monosomic rescue (duplication of a chromosome from a monosomic zygote), 3)Gamete complementation (fertilization of a gamete with two copies of a chromosome with no copies from other parent)}} | |||
{{hidden|What is imprinting?|Normally we inherit one copy of each gene from each parent, some genes are only expressed when they are inherited paternally, some only when maternally, this differential expression based on inheritance is called imprinting, and changes generation to generation.}} | |||
{{hidden|Which chromosomes are known to have imprinted genes?|Chromosomes 6,7,11,14,and 15.}} | |||
{{hidden|Describe Prader-Willi Syndrome.| | |||
{{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)}} | ||