Trisomies, microdeletion syndromes, and karyotype analysis reading concepts, one disorder per card.
35 cards · basic cards · AI-written, checked twice. Edit anything.
- What chromosomal abnormality causes Down syndrome?
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Trisomy 21 (three copies of chromosome 21)- What chromosomal abnormality causes Edwards syndrome?
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Trisomy 18 (three copies of chromosome 18)- What chromosomal abnormality causes Patau syndrome?
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Trisomy 13 (three copies of chromosome 13)- What is the karyotype of a person with Klinefelter syndrome?
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47,XXY- What is the karyotype of a person with Turner syndrome?
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45,X- What is the karyotype of a person with Triple X syndrome?
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47,XXX- What is the karyotype of a person with Jacobs (XYY) syndrome?
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47,XYY- What chromosomal change causes Cri-du-chat syndrome?
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Deletion of part of the short (p) arm of chromosome 5- What chromosomal change causes DiGeorge syndrome?
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A microdeletion at 22q11.2- What chromosomal change causes Williams syndrome?
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A microdeletion at 7q11.23- What chromosomal change causes Prader-Willi syndrome?
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Deletion of the 15q11-q13 region on the chromosome 15 inherited from the father- What chromosomal change causes Angelman syndrome?
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Deletion of the 15q11-q13 region on the chromosome 15 inherited from the mother- What chromosomal change causes Wolf-Hirschhorn syndrome?
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Deletion of part of the short (p) arm of chromosome 4- What chromosomal change causes Smith-Magenis syndrome?
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A microdeletion at 17p11.2- What chromosomal change causes Miller-Dieker syndrome?
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A microdeletion at 17p13.3
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