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1.  De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene. 
Journal of Medical Genetics  1995;32(4):293-295.
A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia.
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PMCID: PMC1050379  PMID: 7643360
3.  A family study of isolated cleft palate. 
Journal of Medical Genetics  1982;19(5):329-331.
A family study was based on 245 boy and 329 girl patients treated surgically for non-syndromic cleft palate between 1920 and 1929; 86 and 81 respectively were traced and had had children. These 167 were the probands for the family study and were interviewed in their homes. None was born to a consanguineous marriage. Altogether they had had 384 children of whom 11 had cleft palate (2.9 +/- 0.9%). They had 398 sibs of whom five had cleft palate, 117 grandchildren of whom one was affected, and 517 nephews and nieces of whom one was affected. This is the largest series yet available on which to base an estimate of the risks to children of patients with non-syndromic cleft palate. The risk is probably increased where a parent or sib of the proband is affected and increased to a lesser degree where a second or third degree relative is affected. The family patterns in these and other studies suggest that the aetiology of cleft palate is heterogeneous, with some families showing modified dominant inheritance. This is in contrast to cleft lip (+/- cleft palate) where the data are consistent with a multifactorial threshold model.
PMCID: PMC1048915  PMID: 7143384
4.  A three generation family study of cleft lip with or without cleft palate. 
Journal of Medical Genetics  1982;19(4):246-261.
A family study of cleft lip, with or without cleft palate, was based on those treated by operation at The Hospital for Sick Children, London, between 1920 and 1939 in order to give information on the proportion affected of children and grandchildren. The probands were those who had survived, were successfully traced, and found to have had at least one child. Care was taken to exclude patients who were traced through a child, whether normal or affected, and not through the usual tracing procedure. Patients with recognised syndromes were also excluded. Because the series was based on patients who had survived and reproduced it was biased in favour of those with milder degrees of the malformation, and against those with any severe associated malformation. The proportion affected of children of probands was 3.15% (+/- 0.56), of sibs 2.79% (+/- 0.52), and of parents 1.18% (+/- 0.37), respectively. The lower proportion of parents affected is attributed to reduced reproductive fitness of patients born two generations ago. The proportion affected of nephews and nieces, aunts and uncles, and grandchildren was 0.47% (+/- 0.18), 0.59% (+/- 0.13), and 0.8% (+/- 0.6) respectively. The proportion affected of first cousins was 0.27% (+/- 0.08). The birth frequency of cleft lip (+/- cleft palate) is estimated to be about 0.1% in England. There were two first cousin and one second cousin marriages among the marriages of the parents. There was no increase of cleft palate among the relatives of the probands. The proportion of sibs affected increased with increasing severity of the malformation in the proband, where the proband was female, and where the proband had an affected parent or already had one affected sib. It was not, however, increased where a more remote relative was affected. The proportion of children affected was not increased when the proband had an affected parent or sib, but few families provided information. The most economical hypothesis to explain the findings is the multifactorial threshold model. The birth frequency of the malformation and the family patterns found make it improbable that one single mutant gene makes a major contribution to the liability to develop the condition.
PMCID: PMC1048889  PMID: 7120312
5.  Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems. 
Journal of Medical Genetics  1979;16(3):166-175.
The work of one Genetic Centre over 16 years, covering about 14 000 kinships, is described. The numbers registered in a year increased from an average of 477 in the early 1960s to 1612 in 1976/1977. The increase is largely, but not entirely, attributable to the advent of prenatal diagnosis, and an account is given of our experience with this. In 1916 patients who had a successful amniocentesis, results indicative of fetal abnormality were found in 4.3% and a balanced translocation was found in an additional 0.9%. Results indicative of fetal abnormality were found in 3.5% of mothers referred because of a maternal age of 40 or more, 3.9% referred because of a high risk of neural tube defect, and 19.3% referred because of a high risk of an inborn error of metabolism. A number of cases with difficult diagnostic problems are described.
PMCID: PMC1012687  PMID: 469894

Results 1-5 (5)