Introduction to Risk Calculation in Genetic Counseling

by
Edition: 2nd
Format: Paperback
Pub. Date: 1999-11-04
Publisher(s): Oxford University Press
  • Free Shipping Icon

    This Item Qualifies for Free Shipping!*

    *Excludes marketplace orders.

List Price: $190.40

Buy New

Arriving Soon. Will ship when available.
$181.33

Rent Textbook

Select for Price
There was a problem. Please try again later.

Rent Digital

Rent Digital Options
Online:180 Days access
Downloadable:180 Days
$46.99
Online:365 Days access
Downloadable:365 Days
$53.25
Online:1460 Days access
Downloadable:Lifetime Access
$70.99
$56.39

Used Textbook

We're Sorry
Sold Out

How Marketplace Works:

  • This item is offered by an independent seller and not shipped from our warehouse
  • Item details like edition and cover design may differ from our description; see seller's comments before ordering.
  • Sellers much confirm and ship within two business days; otherwise, the order will be cancelled and refunded.
  • Marketplace purchases cannot be returned to eCampus.com. Contact the seller directly for inquiries; if no response within two days, contact customer service.
  • Additional shipping costs apply to Marketplace purchases. Review shipping costs at checkout.

Summary

Genetic counseling is widely accepted as an integral part of the management of every patient with an inherited disorder, and the rapid developments in human and medical genetics have reinforced the importance of competency in risk calculation. Fully updated since the first edition (1991) this book provides a simple introduction for risk calculation for genetics counseling,, describing how risks can easily be estimated or calculated for most counseling situations. Easy-to-use, with worked examples, this book covers all patterns of inheritance. In this second edition, Introduction to Risk Calculation in Genetic Counseling now includes a chapter on cancer genetics, and there are also new sections on anticipation, gonadal mosaicism, the potential use of susceptibility loci, three-way chromosome translocations and meiotic drive.

Table of Contents

Genetic counseling and the laws of probability
1(15)
Genetic counseling and the concept of risk
1(2)
The laws of probability
3(3)
The binomial distribution
6(4)
Bayes' theorem
10(5)
Autosomal dominant inheritance
15(21)
Reduced penetrance
15(8)
Variable expression
23(1)
Disorders with late onset
24(3)
Parents have two different autosomal dominant disorders
27(2)
Parents have the same autosomal dominant disorder
29(2)
Affected siblings born to healthy parents
31(3)
Anticipation
34(2)
Autosomal recessive inheritance
36(24)
Hardy---Weinberg equilibrium
36(2)
Risk to the offspring of a healthy sibling
38(2)
Risks to the extended family
40(2)
Risks to the offspring of an affected homozygote
42(3)
Two brothers marry two sisters
45(1)
Siblings with different autosomal recessive disorders
46(1)
Allowing for separate mutations
47(4)
Consanguinity
51(5)
Direct mutation analysis and multiple alleles
56(4)
Sex-linked recessive inheritance
60(22)
The prior probability that any female is a carrier of a sex-linked recessive disorder
61(1)
The probability that the mother of an isolated case is a carrier
62(1)
The carrier risks for female relatives of an isolated case
63(8)
Different mutation rates in males and females
71(4)
Biological fitness is greater than zero
75(4)
Germinal (gonadal) mosaicism
79(3)
The use of linked DNA markers
82(27)
Basic principles of genetic linkage
82(2)
Autosomal dominant inheritance
84(3)
Autosomal recessive inheritance
87(5)
Sex-linked recessive inheritance
92(3)
Using information from flanking markers
95(3)
Disorders with late onset
98(3)
Parental genotypes not known
101(3)
Linkage disequilibrium
104(2)
Linkage heterogeneity
106(3)
Polygenic and multifactorial inheritance
109(13)
Polygenic inheritance and the Normal distribution
110(2)
The liability/threshold model
112(1)
General principles in counseling for multifactorial disorders
113(2)
Computer program for risk estimation
115(2)
The use of susceptibility loci
117(3)
A philosophical postscript
120(2)
Cancer genetics
122(11)
General principles in cancer risk assessment
122(3)
Risk assessment using empiric epidemiological data
125(2)
Risk assessment assuming Mendelian inheritance
127(4)
A cautionary caveat
131(2)
Balanced chromosome rearrangements
133(28)
Reciprocal translocations
135(10)
Robertsonian translocations
145(4)
Three way translocations
149(2)
Pericentric inversions
151(4)
Paracentric inversions
155(2)
Insertions
157(1)
Rearrangements involving an X chromosome
158(3)
Other mechanisms of inheritance
161(23)
Sex-linked dominant inheritance
161(1)
Sex-linked dominant inheritance with male lethality
162(1)
Sex-linked dominant inheritance with unaffected males
163(1)
Metabolic interference
163(1)
Digenic inheritance
164(1)
Uniparental disomy and imprinting
165(4)
Somatic crossing-over
169(1)
Germinal (gonadal) mosaicism
169(3)
Meiotic drive
172(1)
Mitochondrial inheritance
172(12)
References
175(9)
Appendix 184(34)
A1 Overlapping Normal distributions
184(2)
A2 Germinal mosaicism
186(20)
A3 Length of prometaphase chromosome segments
206(12)
Index 218

An electronic version of this book is available through VitalSource.

This book is viewable on PC, Mac, iPhone, iPad, iPod Touch, and most smartphones.

By purchasing, you will be able to view this book online, as well as download it, for the chosen number of days.

Digital License

You are licensing a digital product for a set duration. Durations are set forth in the product description, with "Lifetime" typically meaning five (5) years of online access and permanent download to a supported device. All licenses are non-transferable.

More details can be found here.

A downloadable version of this book is available through the eCampus Reader or compatible Adobe readers.

Applications are available on iOS, Android, PC, Mac, and Windows Mobile platforms.

Please view the compatibility matrix prior to purchase.