Purchase Solution

The genetics behind the neurodevelopmental disorder Microcephaly

Not what you're looking for?

Ask Custom Question

Choose a defect from the following list that you are unfamiliar with:

1. Anecephaly
2. Chiari malformation
3. Hydrocephalus
4. Microcephaly
5. AVMs

Find at least 2 peer reviewed articles that identify either genetic or environmental factors that can lead to that anomaly. Summarize each article and discuss either how the environmental factors could be changed to improve outcomes for the child, or discuss the genetics of the disorder by identifying whether it is a recessive or dominant condition and how it is passed from parent to child.

Purchase this Solution

Solution Summary

The material above contain articles which investigate the genetic basis of the neurodevelopmental disorder Microcephaly. The articles pinpoint the locus and the genes whose mutation results in the above disorder. There are also several references mentioned here which investigate the same.

Solution Preview

I have summarized the two articles that discuss the genetics of Microcephaly. I have also attached the PDFs of these two articles. Please read these articles and go through the references mentioned below.

Microcephaly:
Microcephaly is a neurodevelopmental disorder in which the head circumference (HC) grows 2-3 standard deviation below a normal person's HC. The condition may be from birth or it may be apparent after 2-3 yrs of birth. Various factors can cause this down-growth of the HC, one of them being chromosomal abnormality. This is a recessive disorder and arises from homozygous mutation of the Microcephalin gene.

ARTICLES:

Following articles discuss genetics behind the disorder.
1. Jackson, A. P., Eastwood, H., Bell, S. M., Adu, J., Toomes, C., Carr, I. M., ... & Woods, C. G. (2002). Identification of microcephalin, a protein implicated in determining the size of the human brain. The American Journal of Human Genetics, 71(1), 136-142.
2. Woods, C. G., Bond, J., & Enard, W. (2005). Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. The American Journal of Human Genetics, 76(5), 717-728.

1. Identification of microcephalin, a protein implicated in determining the size of the human brain. (Jackson, A. P., Eastwood, H., Bell, S. M., Adu, J., Toomes, C., Carr, I. M., ... & Woods, C. G. (2002).
Microcephaly is a ...

Purchase this Solution


Free BrainMass Quizzes
Human Anatomy- Reproductive System

Do you know your reproductive anatomy?

Nerves and the Nervous System

This quiz will assess your knowledge of the nervous system and how nerves send signals around the body.

How Much Do You Know About Genetic Inheritance?

Most of us studied the basics of dominant and recessive genes at some point. However, genetics are much more complicated than this. How far beyond the basics does your knowledge go?

The Plant Body

This quiz will test your knowledge of the anatomy of a common plant.

Identifying Variables in Science Experiments, Part 2

Using sample experiments, test yourself to see if you can identify independent, dependent, and controlled variables. Identifying variables is key in understanding and developing experiments. The questions are biology related, but this can be applied to any area of science.