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The genetics of dermal ridges
July, 1969 T h e Journal o[ P E D I A T R I C S
155
Books Book re~ie~s Genetics in medical practice M i h a l y Bartalos, M . D . , editor, Philadelphia, 1968, J. B. L i p p i n c o t t C o m p a n y , 244 pages. $10.75. This book is the resuh of a conference on Genetics in Medical Practice hetd at Howard University in 1967. Five chapters have been added by the editor, Dr. Bartalos, with the intention that the book would be useful to the physician who wishes to apply "recent genetic knowledge in his clinical practice." The text is divided into three general areas: (1) basic concepts of genetics in human disease, with chapters on the chromosomal and chemical basis of inheritance, and principles of medical genet.ics; (2) clinical implementation of genetic principles, which deals primarily with chromosome abnormalities, metabolic disorders, and genetic counseling; (3) genetic factors in the etiology of disease with sections on genetics and cardiovascular disease, mental retardation, malignancy, short stature, susceptibility to drug action, spontaneous abortion, and drugs. A number of statements in various chapters can be challenged. For example, it states on page 59 that among the offspring of diabetic mothers there is a "higher incidence of children with numerous aberrations of the chromosomes." The original article (Forbes and Engel, Metabolism 12: 428, 1963) indicates that in patients with gonadal dysgenesis, a family history of diabetes was more frequent on the paternal side. Another example: The heterozygote for an autosomal recessive trait produces enzymes in "surplus quantities" (page 60). In actual fact, enzyme activity is about 50 per cent of normal in the carrier state. To continue: "In the past, reproduction by persons with chromosome defects was rare . . . however, .this is now being altered by medical advances" (page 103). The meaning of this statement is not clear. Further, that "10% of newborns with multiple congenital anomalies also have a chromosome abnormality" seems rather high and is not supported by other studies (page 105). That a history of mutagenic exposure during gametogenesis or early embryogenesis represents an indication for chromosome
analysis (page 107) is debatable, since no statement is given as to what constitutes a mutagenic agent. It is stated that the chance for recurrence of Down's syndrome in a young mother is 2 per cent for each subsequent birth (page 147). However, Table 12-6 (page 152) indicates that the risk is still 1 to 2 per cent if the child has the typical trisomic complement; most geneticists feel that the risk is considerably Iess in this instance. The addition of extra chapters was intended to develop a more complete text on medical genetics. However, there is no mention of other important genetic concepts which relate to clinical medicine, including isozymes, dermatoglyphics, mutation, selection, and genetic heterogeneity. The book suffers somewhat from differences in style, lack of editing (e.g., chromosome abnormalities are discussed in 8 of 20 chapters), and a poor choice of topics in some instances (e.g., a chapter on Short Stature has a minimal orientation towards medical genetics). There is not a great deal of new information, and the text will have limited value to the physician or medical student. S T A N L E Y W. W R I G H T , M . D . D E P A R T M E N T OF PEDIATRICS UCLA
CENTER
LOS ANGELES,
FOR
THE
HEALTII
SCIENCES
CALIF. 90024
The genetics of dermal ridges S a r a h B. Holt, B.Sc., Ph.D., Springfield, Ill., 1968, Charles C Thomas, Publisher, 195 pages..$15.75. This is the first text on dermatoglyphics since the publication in 1943 of Fingerprints, Palms and Soles by Cummins and Midlo. Dr. Holt has made major contributions to our knowledge of dermatoglyphics and has included much of her own valuable data, together with that from the world's literature. The first portion of the text orients the reader to the normal dermal patterns of the fingers, palms, toes, and soles. The second section deals mainly with the genetic aspects of ridge counts, including distribution, inheritance, diver-
Vol. 75, No. 1, pp. 155-156
15 6
Books
The Journal of Pediatrics July 1969
sity, and their use in twin diagnosis, and concludes with a chapter on the quantitative genetics of palmar patterns. The third portion is concerned with dermal patterns in developmental abnormalities, with particular emphasis on chromosome abnormalities. A separate chapter is given to dermatoglyphics of patients with Down's syndrome and their relatives. The text is well written, the tables are useful and numerous, and the frequent illustrations are of excellent quality and size. The book will be of great value to the geneticist, anthropologist, and biologist. STANLEY W. WRIGHT
DEPARTMENT UNIVERSITY LOS
ANGELES~
OF PEDIATRICS
OF
CALIFORNIA CALIF.
Heredity and disease I a n H. Porter, M.B., B.S., N e w York, 1968, M c G r a w - H i l l Book C o m p a n y , Inc., 408 pages. $12.00. The author, who is Chairman of Pediatrics at Albany Medical College, points out correctly in the preface that medical genetics texts reflect the manner in which different authors seek to present genetics to the medical student; some focus on classical genetics with little relevance to medicine, others present a clinical discussion of diseases which only incidentally are genetically determined. Dr. Porter has made a satisfactory
compromise in this text by using the classical principles of genetics to illustrate hour they can be adapted to an understanding of genetic variability in man. The approach is through six main topics: The Organs of Heredity, Principles of Heredity, Units of Heredity, Genetic Susceptibility, Mutation, and Evolution. The illustrations are well selected, the numerous tables are useful, the text is up-todate, and the bibliographies complete. There are a number of interesting discussions which add to the reader's interest. These include a description of the origin of Huntington's chorea in America, a summary of the origin of the Oriental, Sephardie, and Ashkenazic Jew, and a discussion of what may happen to the incidence of phenylketonuria if selection against the affected individual is completely relaxed. A large amount of genetics information has been put together in some 400 pages. Some selections could have been shortened or omitted, e.g., Screening for Inborn Errors of Metabolism, Malformations Caused by Environment, and Schizophrenia. Possibly, there is too much discussion of the clinical and biochemical features of the inborn errors of metabolism. However, these are small points, and the book should prove useful to students, physicians, and medical geneticists. STANLEY
W.
WRIGHT
D E P A R T M E N T OF PEDIATRICS
UNIVERSITY OF CALIFORNIA
LOS ANGELES, CALIF.
155
Books Book re~ie~s Genetics in medical practice M i h a l y Bartalos, M . D . , editor, Philadelphia, 1968, J. B. L i p p i n c o t t C o m p a n y , 244 pages. $10.75. This book is the resuh of a conference on Genetics in Medical Practice hetd at Howard University in 1967. Five chapters have been added by the editor, Dr. Bartalos, with the intention that the book would be useful to the physician who wishes to apply "recent genetic knowledge in his clinical practice." The text is divided into three general areas: (1) basic concepts of genetics in human disease, with chapters on the chromosomal and chemical basis of inheritance, and principles of medical genet.ics; (2) clinical implementation of genetic principles, which deals primarily with chromosome abnormalities, metabolic disorders, and genetic counseling; (3) genetic factors in the etiology of disease with sections on genetics and cardiovascular disease, mental retardation, malignancy, short stature, susceptibility to drug action, spontaneous abortion, and drugs. A number of statements in various chapters can be challenged. For example, it states on page 59 that among the offspring of diabetic mothers there is a "higher incidence of children with numerous aberrations of the chromosomes." The original article (Forbes and Engel, Metabolism 12: 428, 1963) indicates that in patients with gonadal dysgenesis, a family history of diabetes was more frequent on the paternal side. Another example: The heterozygote for an autosomal recessive trait produces enzymes in "surplus quantities" (page 60). In actual fact, enzyme activity is about 50 per cent of normal in the carrier state. To continue: "In the past, reproduction by persons with chromosome defects was rare . . . however, .this is now being altered by medical advances" (page 103). The meaning of this statement is not clear. Further, that "10% of newborns with multiple congenital anomalies also have a chromosome abnormality" seems rather high and is not supported by other studies (page 105). That a history of mutagenic exposure during gametogenesis or early embryogenesis represents an indication for chromosome
analysis (page 107) is debatable, since no statement is given as to what constitutes a mutagenic agent. It is stated that the chance for recurrence of Down's syndrome in a young mother is 2 per cent for each subsequent birth (page 147). However, Table 12-6 (page 152) indicates that the risk is still 1 to 2 per cent if the child has the typical trisomic complement; most geneticists feel that the risk is considerably Iess in this instance. The addition of extra chapters was intended to develop a more complete text on medical genetics. However, there is no mention of other important genetic concepts which relate to clinical medicine, including isozymes, dermatoglyphics, mutation, selection, and genetic heterogeneity. The book suffers somewhat from differences in style, lack of editing (e.g., chromosome abnormalities are discussed in 8 of 20 chapters), and a poor choice of topics in some instances (e.g., a chapter on Short Stature has a minimal orientation towards medical genetics). There is not a great deal of new information, and the text will have limited value to the physician or medical student. S T A N L E Y W. W R I G H T , M . D . D E P A R T M E N T OF PEDIATRICS UCLA
CENTER
LOS ANGELES,
FOR
THE
HEALTII
SCIENCES
CALIF. 90024
The genetics of dermal ridges S a r a h B. Holt, B.Sc., Ph.D., Springfield, Ill., 1968, Charles C Thomas, Publisher, 195 pages..$15.75. This is the first text on dermatoglyphics since the publication in 1943 of Fingerprints, Palms and Soles by Cummins and Midlo. Dr. Holt has made major contributions to our knowledge of dermatoglyphics and has included much of her own valuable data, together with that from the world's literature. The first portion of the text orients the reader to the normal dermal patterns of the fingers, palms, toes, and soles. The second section deals mainly with the genetic aspects of ridge counts, including distribution, inheritance, diver-
Vol. 75, No. 1, pp. 155-156
15 6
Books
The Journal of Pediatrics July 1969
sity, and their use in twin diagnosis, and concludes with a chapter on the quantitative genetics of palmar patterns. The third portion is concerned with dermal patterns in developmental abnormalities, with particular emphasis on chromosome abnormalities. A separate chapter is given to dermatoglyphics of patients with Down's syndrome and their relatives. The text is well written, the tables are useful and numerous, and the frequent illustrations are of excellent quality and size. The book will be of great value to the geneticist, anthropologist, and biologist. STANLEY W. WRIGHT
DEPARTMENT UNIVERSITY LOS
ANGELES~
OF PEDIATRICS
OF
CALIFORNIA CALIF.
Heredity and disease I a n H. Porter, M.B., B.S., N e w York, 1968, M c G r a w - H i l l Book C o m p a n y , Inc., 408 pages. $12.00. The author, who is Chairman of Pediatrics at Albany Medical College, points out correctly in the preface that medical genetics texts reflect the manner in which different authors seek to present genetics to the medical student; some focus on classical genetics with little relevance to medicine, others present a clinical discussion of diseases which only incidentally are genetically determined. Dr. Porter has made a satisfactory
compromise in this text by using the classical principles of genetics to illustrate hour they can be adapted to an understanding of genetic variability in man. The approach is through six main topics: The Organs of Heredity, Principles of Heredity, Units of Heredity, Genetic Susceptibility, Mutation, and Evolution. The illustrations are well selected, the numerous tables are useful, the text is up-todate, and the bibliographies complete. There are a number of interesting discussions which add to the reader's interest. These include a description of the origin of Huntington's chorea in America, a summary of the origin of the Oriental, Sephardie, and Ashkenazic Jew, and a discussion of what may happen to the incidence of phenylketonuria if selection against the affected individual is completely relaxed. A large amount of genetics information has been put together in some 400 pages. Some selections could have been shortened or omitted, e.g., Screening for Inborn Errors of Metabolism, Malformations Caused by Environment, and Schizophrenia. Possibly, there is too much discussion of the clinical and biochemical features of the inborn errors of metabolism. However, these are small points, and the book should prove useful to students, physicians, and medical geneticists. STANLEY
W.
WRIGHT
D E P A R T M E N T OF PEDIATRICS
UNIVERSITY OF CALIFORNIA
LOS ANGELES, CALIF.