SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATIONS, 4th
Edition K. Jones. W.B. Saunders Co (1988)
This is a compendium of syndromes encountered in clinical genetics.
The book provides representative photographs, clinical descriptions,
natural course, inheritance patterns, treatment and follow-up
information. This is a good reference to help identify a patient
with dysmorphic features.
MOLECULAR GENETICS FOR THE CLINICIAN
D.J.H. Brock. Cambridge University Press (1993)
This book starts with a basic discussion about genetic diseases
and multifactorial disorders. It also includes a discussion of
molecular technology and its application in gene tracking in areas
such as molecular cytogenetics, molecular basis of inherited diseases
and cancer. The book provides a good background in new molecular
technology and its role in the diagnosis and management of a variety
of human diseases.
HUMAN MOLECULAR GENETICS
D. Strachan and A.P. Read. Bios Scientific Publishers, Wley-Liss
(1996)
This book is for the more advanced student seeking a deeper understanding
of the structure of the normal human genome. Where most texts
start with a genetic disease and seek to explain its pathophysiologic
and molecular basis, this text starts with an explanation of the
structure of the human genome, the organization and the expression
of genes, and concludes with a discussion of molecular pathology
and the causation of human genetic diseases.
CLINICAL GENETICS HANDBOOK, 2nd Edition
A. Robinson and M.G. Linden. Blackwell Scientific Publications,
Oxford, London, Edinburgh (1993)
This book is a compilation of disorders in clinical genetics organized
by organ/body systems (e.g., neuromuscular, hematologic, cardiovascular,
skeletal, respiratory, urogenital, metabolic, and psychiatric
disorders, cancer, congenital anomalies, chromosome anomalies,
and pharmacogenetics). This book does not provide a comprehensive
listing of genetic diseases but rather the genetic conditions
that are most likely to be encountered in primary care settings.
GENETICS: HUMAN ASPECTS, 2nd Edition
A.P. Mange and E.J. Mange. Sinauer Associates Inc., Sunderland,
MA (1990)
This is more of a conventional human genetics textbook but with
updated information in a very readable, well organized and illustrated
format.
MEDICAL GENETICS
L.B. Jorde, J.C. Carey, and R.C. White. Mosby, St. Louis (1995)
In paperback form, this is a very good basic text that incorporates
classical genetic knowledge with the new molecular technology
to provide the reader with an understanding of genetic diseases
or conditions.
GENETICS IN MEDICINE, 5th Edition
M.W. Thompson, R.R. McInnes, H.F. Willard. W.B. Saunders Co, Philadelphia
(1992)
This is a basic clinical text that has been updated several times
since its inception in 1966. It provides a good background with
updated information on molecular technology. It is a good book
for the clinician.
MENDELIAN INHERITANCE IN MAN, 10th Edition
V. McKusick. The Johns Hopkins University Press (1992)
This is a catalog or encyclopedia of human genes, genetic traits
and genetic disorders that has been updated 10 times since it
was first published in 1966. Each entry, with a unique 6 digit
number, refers to a gene locus and provides the title (disease
or trait), clinical synopsis, literature summary and references.
This is a valuable desk reference in clinical genetics.
OMIM-ON LINE MENDELIAN INHERITANCE IN MAN
This is a continuously updated version of the text noted above,
maintained with funding from the Human Genome Project with support
from the Department of Energy and the National Center for Human
Genome Research of the National Institutes of Health. OMIM is
accessible through subscription via the Internet from The Johns
Hopkins University Press. This may also be available through your
local genetics center.
DRUGS IN PREGNANCY AND LACTATION, 4th Edition
GG Briggs, RK Freeman and SJ Yaffe. Williams & Wilkins (1994)
This is an excellent collection of easy to read monographs. Each
monograph is divided into six sections including the generic name
of the drug, the pharmacologic class, the risk factor, a fetal
risk summary, a breast feeding summary and a list of references.
The fetal risk summaries provide the necessary information to
counsel patients about the risk of exposure to a particular agent.
The breast feeding sections summarize the literature concerning
the passage of the drug through breast milk and the effects, if
any, on the nursing infant.
OCCUPATIONAL AND ENVIRONMENTAL REPRODUCTIVE HAZARDS: A GUIDE FOR CLINICIANS
edited by Maureen Paul. Williams & Wilkins (1993)
This is a rather technical book that explores the effects that
environmental factors have on reproduction and fetal development.
The text includes a section on clinical evaluation and management,
and chapters on specific physical agents, chemicals, biologic
agents and home and community exposures. The sections on radiation,
solvents, pesticides, HIV in the work place and common household
exposures are excellent.
A NURSING ASSESSMENT OF CHILDREN FOR DETECTION OF GENETIC DISORDERS
AND BIRTH DEFECTS
This is a 26 minute videotape produced by the Education Committee
of the Pacific Northwest Regional Genetics Group (PacNORGG). This
is an excellent video designed to provide public health nurses
with the information and skills necessary to identify individuals
who might benefit from a genetic consultation and refer them for
services. This video also comes with a manual that includes a
narrative, glossary, pre- and post-test, and resources. To obtain
a copy of this program contact the PacNORGG office at: PacNORGG,
CDRC Clinical Services Building, 901 E. 18th Avenue, Eugene, OR
97403-5254 or call 541-346-2610.
THE ALLIANCE OF GENETIC SUPPORT GROUPS
The Alliance is a coalition of voluntary organizations and professionals.
It serves as a forum for addressing the needs of individuals and
families affected by genetic disorders. The Alliance can provide
you and your patients with information about national support
groups. They also publish a Directory of the National Genetic
Voluntary Organizations. Information can be obtained by calling
1-800-336-GENE, or 301-652-5553. The FAX number is 301-654-0171
and the address is 35 Wisconsin Circle, Suite 440, Chevy Chase,
MD 20815-7015.
(Initial Table of Contents)