Trisomies, microdeletion syndromes, and trinucleotide repeat disorders with their hallmark clinical features.
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- Trisomy 21
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Down syndrome- What is the most common cause (mechanism) of Down syndrome?
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Nondisjunction during maternal meiosis I- How does maternal age affect the risk of having a child with Down syndrome?
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Risk increases significantly with advancing maternal age- What type of chromosomal rearrangement can cause Down syndrome independent of maternal age?
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A Robertsonian translocation, commonly involving chromosomes 14 and 21- What congenital heart defect is classically associated with Down syndrome?
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Endocardial cushion defect (atrioventricular septal defect)- Trisomy 18
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Edwards syndrome- Trisomy 13
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Patau syndrome- Which chromosomal microdeletion causes DiGeorge syndrome?
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Deletion of 22q11.2- Why do patients with DiGeorge syndrome have recurrent infections?
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Thymic aplasia leads to a T-cell deficiency- Which chromosomal microdeletion causes Williams syndrome?
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Deletion of 7q11.23- What cardiac defect is classically seen in Williams syndrome?
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Supravalvular aortic stenosis- What is the genetic mechanism of Prader-Willi syndrome?
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Deletion of the paternally inherited copy of the 15q11-13 region- What is the genetic mechanism of Angelman syndrome?
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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.
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imprinting- Which chromosomal deletion causes cri-du-chat syndrome?
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Deletion of the short arm of chromosome 5 (5p deletion)
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