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?
- Trisomy 21 (three copies of chromosome 21)
- What chromosomal abnormality causes Edwards syndrome?
- Trisomy 18 (three copies of chromosome 18)
- What chromosomal abnormality causes Patau syndrome?
- Trisomy 13 (three copies of chromosome 13)
- What is the karyotype of a person with Klinefelter syndrome?
- 47,XXY
- What is the karyotype of a person with Turner syndrome?
- 45,X
- What is the karyotype of a person with Triple X syndrome?
- 47,XXX
- What is the karyotype of a person with Jacobs (XYY) syndrome?
- 47,XYY
- What chromosomal change causes Cri-du-chat syndrome?
- Deletion of part of the short (p) arm of chromosome 5
- What chromosomal change causes DiGeorge syndrome?
- A microdeletion at 22q11.2
- What chromosomal change causes Williams syndrome?
- A microdeletion at 7q11.23
- What chromosomal change causes Prader-Willi syndrome?
- Deletion of the 15q11-q13 region on the chromosome 15 inherited from the father
- What chromosomal change causes Angelman syndrome?
- Deletion of the 15q11-q13 region on the chromosome 15 inherited from the mother
- What chromosomal change causes Wolf-Hirschhorn syndrome?
- Deletion of part of the short (p) arm of chromosome 4
- What chromosomal change causes Smith-Magenis syndrome?
- A microdeletion at 17p11.2
- What chromosomal change causes Miller-Dieker syndrome?
- A microdeletion at 17p13.3