Trisomies, microdeletion syndromes, and trinucleotide repeat disorders with their hallmark clinical features.
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- Trisomy 21
- Down syndrome
- What is the most common cause (mechanism) of Down syndrome?
- Nondisjunction during maternal meiosis I
- How does maternal age affect the risk of having a child with Down syndrome?
- Risk increases significantly with advancing maternal age
- What type of chromosomal rearrangement can cause Down syndrome independent of maternal age?
- A Robertsonian translocation, commonly involving chromosomes 14 and 21
- What congenital heart defect is classically associated with Down syndrome?
- Endocardial cushion defect (atrioventricular septal defect)
- Trisomy 18
- Edwards syndrome
- Trisomy 13
- Patau syndrome
- Which chromosomal microdeletion causes DiGeorge syndrome?
- Deletion of 22q11.2
- Why do patients with DiGeorge syndrome have recurrent infections?
- Thymic aplasia leads to a T-cell deficiency
- Which chromosomal microdeletion causes Williams syndrome?
- Deletion of 7q11.23
- What cardiac defect is classically seen in Williams syndrome?
- Supravalvular aortic stenosis
- What is the genetic mechanism of Prader-Willi syndrome?
- Deletion of the paternally inherited copy of the 15q11-13 region
- What is the genetic mechanism of Angelman syndrome?
- Deletion of the maternally inherited copy of the 15q11-13 region
- Genomic ____ is the phenomenon by which a gene's expression depends on which parent it was inherited from.
- imprinting
- Which chromosomal deletion causes cri-du-chat syndrome?
- Deletion of the short arm of chromosome 5 (5p deletion)