Dr Shirley Ratcliffe and the Edinburgh MRC Clinical and Population Cytogenetics Unit Study of Long Term Outcomes for Children Born with Sex Chromosome Abnormalities

This collection comprises material accumulated by Dr Shirley Ratcliffe in association with the Edinburgh MRC Clinical and Population Cytogentics Unit survey on the long-term outcomes for children born with sex chromosome abnormalities. It falls into two main parts; non-clinical reference and subject-based material mainly on XXY males, XYY males and XXX girls, consisting of largely of data, journal articles, correspondence and images some, but not all, of which is directly related to the study (Sections A and B); clinical case files of those identified as having sex chromosome abnormalities and who participated in the long-term study and also case files of children with SCA who were referred to Dr Ratcliffe but who were not part of the study (Section C). The latter section is closed for Data Protection Act reasons. The material in Section A and B provides information and resources on various conditions and syndromes association with sex chromosome abnormalities, such as Klinefelter's Syndrome and Turner's Syndrome, and focuses on areas such as growth, physical and sexual development, intelligence, psychological and social behaviour. It reflects Dr Ratcliffe's work, activities and broad interest in this field of paediatrics.

1942-2010

15 boxes 11 transfer boxes (closed material)

The collection is arranged into three sections as follows:
Section A: Reference and Subject Material on XXX, XXY and XYY, 1942-2010
Section B: Reference Material on XXX, XXY and XYY: Images (transparencies), 1970s-1990s
Section C: Case Files, 1970s-1990s (This section is CLOSED for Data Protection Act reasons)

Presented to the library at Wellcome Collection by Dr Ratcliffe in November 2010 and January 2011.

In 1967 the Medical Research Council in Edinburgh embarked on a cytogenetic survey of consecutive newborn infants. The aims of the longitudinal survey were to establish the incidence of the various chromosome abnormalities and to moniter the long term outcomes for children identified in the screenings as having sex chromosome abnormalities (SCA). It was hoped that the survey would enable a balanced and more accurate prognosis to be available to parents of an affected fetus or child (where a diagnosis was made), rather than the characteristically pessimistic one which had recently become established. The survey was partly a reaction to studies published in the USA and UK the mid and late 1960s which focused on apparently aggressive and criminal traits common to XYY males. This negative trend of opinion was notably influenced by the studies published in Nature and The Lancet in 1965 and 1966 by British cytogeneticist Patricia Jacobs and colleagues at the MRC Human Genetics Unit at Western General Hospital in Edinburgh of a chromosome survey of 315 male patients at the State Hospital, Carstairs, Scotland, a maximum security psychiatric facility.*
In total 34,380 newborns were screened between 1967 and 1979 by the MRC unit in Edinburgh which was based at the Western General Hospital. Follow-up of SCA cases in the three main categories identified in the Edinburgh survey - XXY males, XYY males and XXX females - continued until the end of 1995, with a control group from the same population. (Seventy SCA children were identified but not all of them participated in the long-term study). At six-monthly intervals participants visited a growth clinic and underwent a series of assessments of health, growth and development, including psychological evaluations. A summary of the survey's findings and conclusions reached by Dr Shirley Ratcliffe was published in 1999 in the journal Archives of Disease in Childhood Vol. 80 Issue 2 pp.192-195.

Dr Shirley G. Ratcliffe, MB BS London 1956; FRCP Edinburgh 1977; MRCS Eng; LRCP London; DCH Eng 1958.
Dr Shirley Ratcliffe was involved in the Edinburgh MRC survey from its inception to completion in the 1990s. This area of study became a chief focus in her career in paediatrics.
Born Shirley Geraldine Elphinstone-Roe in Kenya 1932, her parents moved to England when she was five years old. She qualified in medicine in 1956, MB BS Royal Free Hospital School of Medicine, London. Shortly afterwards she moved to Edinburgh to join her husband, a sculptor who was at art college in the city. She became a consultant paediatrician in the Medical Research Council Clinical and Population Cytogenetics Unit at the Western General Hospital, Edinburgh, where she took up work on the longitudinal SCA survey. Dr Ratcliffe later also held positions as a lecturer and honorary lecturer at the Institute of Child Health, London, in the Department of Growth and Development. She retired from the MRC Edinburgh Unit in 1994. Dr Ratcliffe has published a number of articles generated from analysis of the SCA survey findings.

*See "Aggressive Behaviour, Mental Sub-normality, and the XYY Male", Jacobs, Brunton, Melville, Brittain, McClemont, Nature Dec 1965, Vol 208, pp.1351-52.

This collection has been catalogued and is available to library members. Some items have access restrictions which are explained in the item-level catalogue records.