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Human Cytogenetics. Volume 1. General Cytogenetics. Volume 2. Clinical

Cytogenetics.

Article  in  Journal of Medical Genetics · June 1974

DOI: 10.1136/jmg.11.2.218 · Source: PubMed Central

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Book reviews
Journal of Medical Genetics (1974). 11, 218-220.

Human Cytogenetics. Volume 1. General Cyto- clear and helpful. The criticism of too much detail for
genetics. Volume 2. Clinical Cytogenetics. By John the average reader could also be applied to the tables,
L. Hamerton. (Vol. 1. Pp. xv+412; figures and which are a feature particularly of volume II. For ex-
tables. £865. Vol. 2. Pp. xv+545; figures and ample, there are five tables on parental ages and birth
tables. £12-60.) New York and London: Academic rank in Klinefelter's syndrome, and six full pages of
Press. 1971. tabulated detail on 29 cases of 49,XXXXY. This some-
what excessive tabulation and illustration results in the
Professor Hamerton's two-volume work has been text getting far out of step with the relevant figures, and
available for some time and has already established itself doubtless contributes somewhat to the price of the
as a standard reference work. It is a comprehensive and volumes.
detailed account of the entire subject of human cyto- I think the non-specialist reader would welcome a
genetics. glossary, particularly as some terms (eg, heterochroma-
The first volume covers basic cytogenetics-the cell tin) are used several times before they are defined. Dr
cycle, chromosome structure, meiosis, the morphology of Hamerton makes use of a few terms which are not part
human mitotic chromosomes, and the origins of various of the currently agreed nomenclature. The main one,
abnormalities. An appendix of detailed technical pro- mixoploidy (referring specifically to mosaics whose two
cedures is well designed and clear. The reports of the cell lines have different chromosome numbers) has much
first three international conferences on nomenclature to commend it and could soon come into general use.
are published as appendices. The books are generally carefully written and carefully
Volume II is subtitled 'Clinical cytogenetics' and con- proof-read, although the occasional sentence has es-
tains descriptions of karyotypic abnormalities and their caped to entertain the reader: 'In fish visible sex chro-
phenotypic effects. These are dealt with systematically mosomes cannot usually be seen....' (vol. II, p. 173)
by chromosome group. A chapter is devoted to ideas on and (vol. I, p. 164): 'When cells with a constant lobe
sex determination in mammals, which is particularly number were considered, it could be shown that the
valuable for its systematic discussion of the relative roles drumstick count rose as the lobe number increased from
of sex chromosomes and autosomes in a variety of species. 1 to 4 or 5, but for each given lobe number, the drum-
The final two chapters are brief accounts of the cyto- stick count for the highest number was 3-4 times that of
genetics of pregnancy wastage and neoplasia. Both the women with the lowest number.'
volumes contain a series of addenda to each chapter, There are some inaccuracies and some omissions eg,
mentioning major papers published in 1970 and early 'The chromosomes are composed of DNA combined
1971. with a histone protein' (vol. I, p. 31) makes no mention
It is of course inevitable that a textbook should be of acidic chromosomal proteins. The implication that
somewhat out of date by the time it appears in print, but sperm express haploid ABO phenotypes would not be
fate has treated Dr Hamerton particularly unkindly. generally accepted. There is no mention of disturbed
Before the printers ink had dried, the field underwent immunoglobulin levels in 18-deletion syndromes. I, for
two major transformations. The advent of chromosome one, cannot understand how the carrier of a 21qi could,
banding techniques totally altered the subject of chro- in theory, have normal offspring (vol. II, p. 240). It is
mosome recognition and led to a whole new nomencla- argued (vol. I, p. 200) that chromosomally unbalanced
ture of human chromosomes and their aberrations. In- zygotes are more likely to result from abnormal ova than
creased knowledge of the heterogeneity of mammalian abnormal sperm since the abnormal sperm will always
DNA and the relationship of highly repetitious DNA to represent only a small fraction of the ejaculate and will
constitutive heterochromatin have fundamentally al- therefore be unlikely to effect fertilization, purely on the
tered our views of chromosome structure. Through no basis of their rarity. Unless there is some form of
fault of the author, quite large sections of both volumes genetic selection, I would think that the probability of an
have suddenly lost contemporary relevance. abnormal gamete, male or female, being included in a
The volumes are profusely illustrated, both with ex- zygote is purely a function of the frequency with which
cellent photographs and with explanatory diagrams. such cells arise, and that Dr Hamerton's argument is
Some of the latter I found rather too complex to be help- fallacious.
ful; others, such as the four diagrams detailing modes of These are, however, isolated points taken from about
origin of XX/XY individuals, seem to labour unneces- 900 pages. In the main, these volumes are compre-
sarily over fairly simple concepts; but the majority are hensive and carefully compiled. Every serious cyto-
218
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Book reviewos 219

geneticist must have them. The wider market to which some No. 1, and of the haptoglobin gene to No. 16,
the publishers are looking-general physicians, students, should have been mentioned although perhaps one would
and others with only occasional interest in human cyto- not have expected more than the brief sentence which is
genetics-will however probably be content to have devoted to cell hybridization as a means of assigning
access to the books in a nearby library and will hold their human genes to their linkage group. The section on
money until a revised version becomes available, incor- counselling starts well and is sensitive, but some of the
porating the important information of the early 1970s. factual information is in error. For example, the overall
MARTIN BOBROW prevalence of anencephaly (and/or spina bifida rather
than 'with spina bifida') is too high, the risk of recurrence
after one affected is well less than the one quoted and the
risk after two could not be smaller than the risk after one
Textbook of Human Genetics. By Max Levitan affected child; also, fibrocystic disease of the pancreas
and Ashley Montague. (Pp. xiv + 922; figures and after the birth of one affected child has a higher re-
tables. £5-00.) London: Oxford University Press. currence risk than 1 % and a woman who has produced a
1970. child with Down's syndrome has not, overall, a 4% risk
This book was aimed at providing for the varied back- of recurrence of the condition. Less importantly 45,X
ground of students reading human genetics and has abortuses are about 22% of the chromosomally abnor-
ended up by being itself heterogeneous. This is a pity mal (30 to 50%) spontaneous abortions, not 22% of all
because the book has many useful points, is well pro- miscarriages.
duced and, in general, well written. But its balance is There are other corrigenda which the authors have
uneven and also for this reason, while it can usefully be listed and recently circulated privately. They have also
read by the discerning student who knows some human circulated a useful collection of answers to the exercises.
genetics and uses it as a complementary text, it cannot be The bibliography is extensive and seems accurate;
universally recommended to the majority of the students the subject index is excellent.
for whom it was intended. In spite of faults and errors the book could be useful
Many parts of the book rely fairly heavily on a mathe- but needs extensive and careful revising and re-editing.
matical treatment of the subject and to some extent this P. E. POLANI
is desirable but many students, for example medical and
dental, may find the going rather heavy because such
subjects as linkage, aspects of population genetics, and
the use of special methods to make genetic inferences Clinical Genetics, 2nd ed. Edited by Arnold Sorsby.
from pooled data are treated at a fairly advanced level. (Pp. xi+646; figures+tables. £17-00.) London:
This part, to the reviewer's mind, is out of keeping with Butterworth. 1973.
the rest of the book. In other chapters the authors
draw heavily on clinical material, and on problems of a The first edition of 'Sorsby', which appeared in 1953,
medical genetic nature, and one derives a general im- before this Journal was founded, was an important land-
pression of lack of familiarity with these subjects. In mark in the development of medical genetics combining
contrast, genetics of normal diversity and variation, so lucid chapters on 'Theoretical considerations' and a
important to man, is inadequately considered. clinical section mainly concerned with systematic de-
There are also a number of obvious errors and in- scriptions of inherited traits and diseases, as they were
accuracies. For example the words 'euploid' and 'aneu- then known. It was an admirable textbook which pro-
ploid' are used (Figs. 3-25 and 3-39) when balanced and vided in a more leisurely age and in a single volume all the
unbalanced are meant; telocentric really does mean with genetics most physicians would need. However, in the
the centromere at the end (Figs. 1-7 and 1-9); Figs. 1-10 two decades since the first edition there have been many
and 2-16 seem to be from the same cell and do not seem advances including the development of new techniques
likely to have been supplied by two different workers; which have greatly increased the practical importance of
on the subject of translocation Down's syndrome in Fig. clinical genetics in most branches of medicine. Any
3-29, two normal gametes are wrongly numbered, fe- textbook which attempted to be genuinely comprehensive
male carriers of the translocation do not produce 30% of today would be impossibly long or simply an annotated
Down's syndrome offspring, and some of the references bibliography. Although the latter is of inestimable
quoted clearly say so. Also translocation Down's syn- value to the specialist the majority require the more
drome cases do not appear to be phenotypically different selective approach of Sorsby. However, a number of
from those who are primary trisomic; Lesch-Nyhan's compromises have been inevitable. Multiple author-
disease is neither a convulsive nor a compulsive disorder ship, in this edition, has led to overlap between chapters
though the affected children cannot refrain from self -for example in the descriptions of immune deficiencies
mutilation; the basic defects of Xeroderma pigmentosum, and inborn errors. The coverage of autosomal chro-
mostly spelled correctly and repeatedly mentioned, might mosomal abnormalities, prenatal diagnosis and genetic
have been discussed in view of its importance in princi- counselling might with advantage have been more ex-
ple; deletion mapping could have been discussed in tensive and in view of the deletion of the section on
relation to linkage and gene assignment, and the assign- 'Theoretical considerations' the non-specialist would be
ment of Duffy (and a special cataract locus) to chromo- well advised, as the editor suggests, to have at hand a
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Human Cytogenetics. Volume

1. General Cytogenetics.
Volume 2. Clinical
Cytogenetics.
Martin Bobrow

J Med Genet 1974 11: 218-219

doi: 10.1136/jmg.11.2.218

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