Article Text

Download PDFPDF

Genetics for Pediatricians
  1. Emma McCann

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    By Mohnish Suri, Ian D Young, series editor: Eli Hatchwell. London: Remedica, 2005,

    Anticipation and delight were my foremost feelings when asked to review this book: not only was it written by two esteemed members of the clinical genetics community, but I was also able to wear my two hats, the old paediatric one and the newer genetic one! I am pleased to say I was not disappointed.

    The book is organised into chapters dealing with the systems affected by genetic disease. The authors have limited the conditions described to those more commonly encountered by a paediatrician (no mean feat). Each condition is then ordered in a systematic manner and includes MIM number, clinical features, epidemiology, age of onset, inheritance, chromosomal location, gene, mutational spectrum, molecular pathogenesis, and genetic diagnosis and counselling. A useful glossary of genetic terms is also available. The book is part of the Remedica Genetics Series and is meant to complement, but not overlap, others in the series; as a result some conditions are omitted where it may have been useful to include them.

    The authors set out their stall at the beginning – this book is aimed at providing the busy general paediatrician with an up to date account of the molecular genetics of common disorders likely to be encountered. In order to see if the book met these ideals, I called on old friends and favours owed. The response to the book was very favourable. It was usable and useful, a welcome edition to a general paediatricians bookshelf, and even enjoyable. The layout and detail presented make the book easy to read. An important attribute of the book is that it provides accurate yet easy to assimilate information about conditions that a paediatrician may diagnose and concerning which the paediatrician may be required to provide initial counselling.

    The title of the book is somewhat misleading because this book’s usefulness extends beyond paediatricians – it is a useful introduction and guide to approaching genetic conditions for specialist registrars and other individuals training in the discipline of genetics. Certainly this book will sit prominently on my shelf for reference and will provide timely reminders on how one should approach a genetic condition. I strongly commend it to other geneticists in training.

    View Abstract