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Maternal Genetic Disease. Edited by NB Isada, a Drugan, MP Johnson

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Maternal Genetic Disease. Edited by NB Isada, a Drugan, MP Johnson 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 incontinentia pigmenti 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-mutation 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 mutations 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 fragile X syndrome, 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 dominance 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.
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