350 Book reviews in families with IP may, however, be fruitful health professionals and families after a syn- These deal with these problems in a similar in the search for the gene. drome diagnosis has been made. It has been way to most textbooks of genetics, albeit very specifically written in non-technical language, briefly and with some important omissions. ELI HATCHWELL aimed at a general readership, who may not The book then changes character, and in the Wessex Clinical Genetics Service, of authors Princess Anne Hospital, Level G, have a broad medical knowledge. Twenty new remaining 12 chapters a range Coxford Road, syndromes have been included at the request each tackle the genetic aspects of a specific Southampton S016 5YA, UK of readers, giving a total of 90 conditions, the maternal pregnancy problem, including the majority of which are genetic. This is assisted main medical problems that occur in preg- 1 Kirchman TTT, Levy ML, Lewis RA, Kanzler by a clear appendix containing a good review nancy, renal, cardiac, haematological, neuro- MH, Nelson DL, Sheuerle AE. Gonadal mo- disease, etc. This is saicism for in a healthy of basic genetics by Peter Famdon. A useful logical, and psychiatric male. J Med Genet 1995;32:887-90. glossary is also included. There is an al- a nice idea since, for generalists caring for 2 Traupe H, Vehring KH. Unstable pre- phabetical listing of each syndrome, with pregnant women, these multifactorial con- may explain mosaic disease expression of in- 1000 words or more per entry describing its ditions are much more common than the continentia pigmenti in males. Am J7Med Genet 1994;49:397-8. incidence, history, causation, characteristics, single gene defects on which most traditional 3 Kurczynski TW, Berns JS, Johnson WE. Studies management, and future developments. The genetic texts concentrate, and some chapters ofa family with incontinentia pigmenti variably descriptions show that Dr Gilbert has had are very successful. However, for some dis- expressed in both sexes. JMed Genet 1982;19; has been stated that the in- 447-51. extensive first hand experience in the care and eases, once it 4 Hecht F, Kaiser MB, Glover T, Austin W. In- management of children with rare disorders. heritance is multifactorial, and the empirical continentia pigmenti: occurrence in Arizona The inclusion of the addresses of support recurrence risk given, there is little more to Indians and evidence against the half-chro- group associations, Contact-A-Family, and say. Unfortunately, this has not deterred con- matid mutation model. Birth Defects 1982,18: 89-92. the UK clinical genetics centres also shows tributors from padding out their chapters with 5 Lenz W. Half chromatid may explain her understanding of parents' needs. The platitudes, irrelevances, and repetitions, and incontinentia pigmenti in males. Am .7 Hun language used for the most part is clear and the whole book cries out for stronger editing. Genet 1975;27:690-1. The arrangement also leads to oddities. For 6 Emery MM, Siegfried EC, Stone MS, Stone simple to understand. EM, Patil SR. Incontinentia pigmenti: trans- No such book could aim to cover all the example, cystic fibrosis (CF) appears only in mission from father to daughter. _7 Am Acad rare syndromes. The author states that she chapters on anaesthesia and gastrointestinal Dermatol 1993;29:368-72. can only cover a small number of syndromes. disorders. The reason for the former appears 7 Vehring KH, Kurlemann G, Traupe H, et al. Incontinentia pigmenti in a male infant. (Ger- Her book is in fact an A-W of syndromes, to be that having written about malignant man.) Hautarzt 1993;44:726-30. although she could have made it an A-Z by hyperpyrexia and succinylcholine sensitivity, 8 Camey RG. Incontinentia pigmenti. a world including Zellweger's syndrome! There are the author needed a couple more pages to statistical analysis. Arch Dermatol 1976;112: such as the ab- make a full chapter. The description of CF 535-42. also a few minor problems, 9 Fu YH, Kuhl DP, Pizzuti A, et al. Variation of sence of any discussion of renal biopsy in in the gastrointestinal chapter is concerned the CGG repeat at the fragile X site results in Alport's syndrome, the omission of epilepsy almost entirely with the important but rare genetic instability: resolution of the Sherman as a complication of neurofibromatosis, and problem of pregnancy in an affected woman. paradox. Cell 1991;67:1047-58. 10 Davie AM, Emery AEH. Estimation of pro- a rather unclear distinction between Finnish It is a quite inadequate guide to the day to portion of new mutants among cases of Du- nephrotic syndrome and the many other day problems surrounding CF counselling chenne muscular dystrophy. J7Med Genet 1978; causes of nephrotic syndrome. There is also and prenatal diagnosis for normal women 15:339-45. no reference to the finding of an expanded with or without a family history. triplet repeat causing , There are many other omissions and im- explaining the unusual inheritance. The index balances. Some are serious and others simply contains a list of signs and symptoms found rather strange. For example, myotonic dys- in different syndromes, similar to that seen trophy gets only five lines in one of the in- BOOK REVIEWS in Gorlin's Syndromes of the Head and Neck, troductory chapters while multiple sclerosis ostensibly as an aid to diagnosis. In fact, this gets 10 pages later on. It is unacceptable for volume is better used as a reference once a a large genetics text in 1996 to omit any diagnosis has already been made. The lack explanation of the whole area of triplet repeat If you wish to order or require further in- volume more sequences and genomic imprinting. Less ser- formation regarding the titles reviewed here, of photographs also makes this suited to the role of a lay reference work, ious, but still curious given the relative weight please write to or telephone the BMJ Book- Tel rather than a diagnostic aid. allocated to common multifactorial diseases, shop, PO Box 295, London WC1H 9JR. book is the omission from a three page description 0171 383 6244. Fax 0171 383 6662. Books Overall, this is an excellent reference for a wide range of health and educational of pre-eclampsia of any mention of the fa- are free in the UK and for supplied post It clear clinical in- milial pattern of this disease. Readers will not BFPO addresses. Overseas customers should professionals. provides and can a quick snapshot of learn that many experts even believe, albeit add 15% for postage and packing. Payment formation, give a condition for many people involved in the wrongly in my view, that this fascinating and can be made by cheque in sterling drawn on care of children with rare disorders. common condition might be inherited in a UK bank or by credit card (Mastercard, simple mendelian fashion, and that a number card num- Visa, or American Express) stating ofgroups are already doing gene linkage stud- ber, expiry date, and full name. (The price ANDREW GREEN ies. They should be told. and availability are occasionally subject to This book bears all the hallmarks of being revision by the Publishers.) dashed off by busy authors and editors with more imporatant calls on their time. I cannot Maternal Genetic Disease. Edited by N B recommend it. The A-Z Reference Book of Syndromes Isada, A Drugan, M P Johnson, M I Evans. and Inherited Disorders. 2nd ed. Patricia (Pp 272; £65.95.) Stamford, Connecticut: J G THORNTON Gilbert. (Pp 378; £15.99 pb.) London: Chap- Appleton and Lange. 1994. ISBN 0-8385- man & Hall. 1995. ISBN 0-412-64120-8. 6164-0.

The diagnosis of a rare condition in a child People who advise pregnant women need The Molecular Biology and Pathology of understandably raises many questions for that to keep up with developments in genetics. Elastic Tissues. Ciba Foundation Sym- child's parents and relatives. Such queries Parents always want to know the risks of posium 192. (Pp 361; £49.95.) London: are usually posed to the paediatrician or GP passing a condition to their children and Wiley. 1995. ISBN 0-471-95718-6. caring for the child. However, there are a whether anything can be done to reduce these. wide range of health professionals involved Often the first person they ask is their ob- This book contains the published proceedings in the care of the child who need information stetrician or midwife. This book, edited by a of an excellent Ciba Symposium on the mo- about a condition, both for themselves, and distinguished team from the United States lecular biology and pathology ofelastic tissues to answer the questions inevitably also posed and Israel, aims to provide the information held in Kenya in 1994. As one expects of to them. The problems of "how did it required. It has some good features but these Ciba Symposium proceedings, the book is happen?", "can you treat it?", "will it happen are outweighed by many faults. beautifully produced and very portable. Fur- again?", and many more are well addressed The book opens with six chapters on gen- thermore, it has been published within less in this reference book. eral aspects of genetic diseases, including than 12 months. Dr Gilbert has produced an expanded sec- specifically preconception counselling, chro- North American in the field is ond edition of her book, designed to inform mosomal problems, and mental retardation. very evident with 72% of the chapters and a Book reviews 351 similar proportion of the part:icipants ori- Genetics and You. John F Jackson. (Pp 92; oncogene capable of causing cancer. On the ginating from either the USA orr Canada. $9.50 pb.) USA: The Humana Press. 1995. other hand, the entry of a single-cellular Here is an in depth coverage of the entire ISBN 0-896-03330-9. organism into the cells of higher organisms field of elastic tissue biology witlh state of the during evolution produced the mito- art information on topics such aLs biophysics, The aim of this short book is "to provide chondrion", and "The cloning of a human ultrastructure, elastin gene (organisation, basic information about genetic disorders in analogous to that of frogs could be possible modifying enzymes, transgenic rmice with el- a useful form for those who have no special down the road." astin deletions, and the microfibrillar protein training in genetics". Unfortunately, it fails Social and ethical issues are hardly referred fibrillin 1. Coverage is also giv(en to elastin to do this, giving genetic information in dry, to: "Heated debate has resulted from screen- regulation, histological changges in hy- technical terms and failing to address the ing programs in the past and much has been pertension, and tumour biologyy. The range wider, relevant issues. The starting point is learned". We are not told what the debate of topics mirrors most of those recently ad- medicine, rather than people's lives. has been about nor what has been learned. dressed in the 1995 Gordon CcDnference on I will give some examples which speak for I make no apology for giving these quotes, the same topic. This book, of coiurse, is avail- themselves. The chapter on prenatal diag- the product ofa clinical geneticist of 30 years' able to a very wide audience whereas the nosis fails to address the difference between experience trying to communicate to the non- Gordon Conferences, by their very nature, screening and diagnostic tests, the meaning geneticist. While this review is unlikely to have a very limited audience. of positive and negative results, or the psy- encourage people to buy this book, I hope it Two important additions woulId have made chological issues of anxiety and false re- will encourage them to think about how we this book even more valuable to ain even wider assurance. We are told: "The very slight risk can better achieve the increasingly important audience. Firstly, a chapter on ellastin related of complications for mother and fetus from task of communicating about genetic issues diseases would have been extremely valuable. CVS is slightly higher than for amniocentesis. to non-geneticists. This is a multidisciplinary While these are mentioned at v.arious places Technical error is higher for CVS". We are task, and would benefit from the expertise of throughout the book, the molecullar pathology not told what these risks are nor what their those involved in the social and behavioural of disorders such as Williamss syndrome, implications are. But we are told: "There is sciences, the public understanding ofscience, supravalvular aortic stenosis, cuttis laxa, Mar- probably a higher risk for Rh sensitisation by developing educational curricula, as well as fan syndrome, PXE, Buschke-Ollendorf syn- CVS, requiring use of Rho GAM injections communications using computer software. drome, aortic aneurysms, emp]hiysema, etc, for R-negative mothers". Only the term CVS would have been a very valuable all, the first Williams mutatio nsfocus.wereAterede-i- Carrier risk is explained: "The carrier risk SUSAN MICHIE scribed in 1993 and Marfan syinidrome ana- for an apparently normal sibling ofan affected lyses have exploded since the gendrmesqnce person married to a nonrelative becomes was published in 1991. Seconclly it would 2/3, times the population carrier rate for the have been useful to have had a separate chap- spouse, times one in four for an affected chap- child if both are carriers. For for ter on microfibrillar componentsparateother than parents CF, rs example, the risk would be 2/3 x 1/5 x 1/4 = lysyl oxidase and fibrillin. Mic::rofibrils are 1/150, or in card cutting terms: one ace of important components of elastic fibres and hearts in three decks of cards." NOTICE include proteins such as MACiP, MFAP 1, The chapter on the new genetics starts with VI, etc, in some of whLich the gene RFLPs and PCRs and goes on to explain why organisation resembles the fibril;lin. genetics is relevant to organ transplantation: Nevertheless, the book will be c)fsubstantial "There is a series of genes lined up on interest to basic scientists interested in the chromosome 6 called the major histo- Fifth Annual Meeting of the field of connective tissue biolo'gy and also compatibility complex (MHC) or simply the International Genetic Epidemiology contains much interesting infc rmation for HLA region. There are separate genes at five Society clinicians researching into conntective tissue loci, with an enormous number of pos- biology. Those with specific syndromic in- sibilities. The HLA-A locus has at least 20 This meeting will be held on 16-18 August terests, however, are perhaps less well catered different genes, and the B locus has more 1996 in Rio de Janeiro, Brazil, in conjunction for, but the book is certainly a valuable ad- than 40. There is an additional series ofgenes with the 9th International Congress of dition to departmental libraries and large at the C, D, and DR loci." The issues of . For further information, medical libraries should buy a cOPY. gene transfer and cloning are equally obscure: please contact Dr Ruth Ottman, Columbia "Sometimes it is harmful, as in the transfer University, New York, telephone (212) 305- F M POPE of a gene from animal to virus to make an 9188, fax (212) 305-2426. 352 Notice to contributors

Notice to contributors (general guidance) 'CALLS FOR PATIENTS' The readership of J7ournal of is world wide and The Journal receives an increasing number of requests to publish covers a broad range of workers, including clinical geneticists, notices of proposed studies involving patients or families with scientists in the different fields of medical genetics, clinicians in rare genetic disorders. In general such notices are appropriate other specialities, and basic research workers in a variety of only for major international collaborations; the proposer should disciplines. It publishes original research on all areas of medical ensure that such a notice does not conflict with existing studies or genetics, along with reviews, annotations, and editorials on im- proposals. portant and topical subjects. It also acts as a forum for discussion, debate, and information exchange through its Letters to the ILLUSTRATIONS Editor columns, conference reports, and notices. The editor is High quality black and white photographs are preferred for most always grateful for suggestions or criticisms from readers and illustrations, particularly of patients. Colour illustrations can be authors. accepted; however, authors are asked to pay part of the cost, so their desirability should be discussed in advance of submission. ORIGINAL PAPERS All identifiable photographs of patients must be accompanied by These may be on any aspect of medical and human genetics and written permission for use. may involve clinical or laboratory based and theoretical genetic studies. Guidance on length can be obtained from studying the NOTES ON NOMENCLATURE Journal. Case and family reports may be submitted as Brief Authors should refer to the following publications. papers. Short reports should in general not exceed 500 words, with (1) Chromosomes: ISCN 1985. An international system for one or two illustrations, and the text should be continuous with human cytogenetic nomenclature. Basel: Karger, 1985. no headings. An abstract should be provided for all papers. (2) Genes: Shows TB, et al. In: Human Gene Mapping 5 and Contributions may also be submitted as Hypotheses or Technical 7. Cytogenet Cell Genet 1979;25:96-116, 1984;37:340-3. notes. Accelerated publication of papers of particular importance (3) Loci: Conventional nomenclature should be used with will be considered. lower case lettering as appropriate (for example, Race RR, Sanger R. Blood groups in man. 6th ed. Oxford, London: Blackwell, 1975; and Giblett ER. Genetic markers in human blood. Oxford, London: REVIEWS Blackwell, 1969). Short or longer reviews on all aspects of medical genetics are (4) Blood coagulation: International Committee of Haemo- welcome, but should be discussed first with the Reviews Editor. stasis and Thrombosis (Graham JB, et al). A genetic nomencla- Contributions on historical topics, or which could form part of ture forhuman blood coagulation. ThrombHaemostas 1973;30:2-1 1. specific series, are particularly acceptable. (5) Enzymes: Enzyme nomenclature: recommendations of the nomenclature committee of the International Union of Biochemistry. ANNOTATIONS AND EDITORIALS New York: Academic Press, 1984. These are written or commissioned by the editors, but sugges- tions are welcome regarding possible topics and authors. Specific instructions to authors Papers, which should be in triplicate and in the Vancouver style LETTERS (BMJ 1988;296:401-5), should be sent to the Editor, J7ournal These are welcome on any relevant topic and will be published of Medical Genetics, Box 238, Level 3, Laboratories Block, Ad- rapidly. Those relating to or responding to previously published denbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK items in the Journal will be shown to those authors, where and not to individual editors, with the exception of papers from appropriate. Although a paper submitted as an original report the USA, which can be submitted to the North American Editor, may sometimes be published in shortened form as a letter, it is Dr P M Conneally, Department of Medical Genetics, James preferable for initial submissions to be as a short report, unless Whitcomb Riley Hospital for Children RR1 29, Indiana University directly related to a previous journal article. Medical Center, Indianapolis, Indiana 46223, USA. Submission of a paper will be held to imply that it contains original work CONFERENCE REPORTS which has not been previously published. It is the responsibility Reports from small to medium sized meetings, especially inter- of the submitting author to ensure that all the co-authors agree national workshops on specific topics, will be appreciated. Auth- to their names appearing on the manuscript. A fax number should ors intending to submit conference reports should liaise with the be provided. 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