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Trisomy 21 (Down Syndrome): Introduction – Pediatrics | Lecturio

In this lecture, we will discuss Trisomy 21 or Down syndrome. Trisomy 21 is when a patient has 3 copies of their 21st chromosome in every cell in their body. These patients have characteristic facial features like you can see here. They have hypotonia, they have intellectual disability and they may have congenital malformations and […]

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Multifactorial Inheritance: Qualitative & Quantitative Traits – Medical Genetics | Lecturio

Welcome back. As you’ve probably already ascertained, most genetic disorders are multifactorial in nature, having both an environmental and perhaps multiple genetic components or multiple environmental components. In this lecture, we’ll talk about ways that we start to sort out genes from variants and environment. There are definitely genetic components where we see complex interactions […]

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Pedigree Analysis – Part 2: Sex-linked Inheritance Patterns

Pedigree analysis: What are the patterns of sex-linked inheritance? In the previous Chalk Talk episode, we focused on autosomal or non-sex linked inheritance patterns. They affect any trait whose genes are located on autosomes. Autosomes are the chromosomes 1 to 22 of which two copies of each are present in males and females. Sex-linked inheritance […]

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Pedigree Analysis – Part 1: Autosomal Inheritance Patterns

Pedigree analysis – What are the patterns of autosomal inheritance? What’s the probability of inheriting certain genetic disorders? Pedigree analysis is usually quite helpful in answering this question. Fortunately, a thorough understanding of human genetics isn’t required to do so. Usually, an overview of classical hereditary suffices. We’d like to provide you with this overview […]

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Attention-Deficit/Hyperactivity Disorder (ADHD) – Pediatrics | Lecturio

Let’s move on now and talk a little bit about ADHD, Attention Deficit Hyperactivity Disorder. This is defined as at least six symptoms involving inattentiveness, hyperactivity, or both that have persisted for at least a 6-month period. Inattention means problems listening, concentrating, paying attention to details, organizing tasks, or being easily distracted or forgetful. Hyperactivity […]

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