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1.  Wiedemann-Beckwith syndrome in one of monozygotic twins. 
Archives of Disease in Childhood  1985;60(12):1191-1192.
A pair of monozygotic twins discordant for Wiedemann-Beckwith syndrome is described. The probability of monozygosity is 0.995. This observation suggests that the syndrome is unlikely to be under single gene control and genetic counselling should be based on multifactorial inheritance.
PMCID: PMC1777666  PMID: 4091589
2.  Ascertainment and severity of Marfan syndrome in a Scottish population. 
Journal of Medical Genetics  1994;31(1):51-54.
This study in north east Scotland has shown that Marfan syndrome has a minimal birth incidence of 1:9802 live births, a minimal prevalence of 1:14217, and that 8/30 (26.7%) of cases in our series are new mutations. The calculated mutation rate is 15 +/- 6.7 x 10(-6) and there is evidence of reduced reproductive fitness.
PMCID: PMC1049599  PMID: 8151638
3.  45,X/46,X dic (Y) mosaicism in a phenotypic male. 
Archives of Disease in Childhood  1991;66(2):252-253.
Cytogenetic analysis, confirmed by in situ hybridisation studies, showed a mosaic 45,X/46,X dic (Y) (q12) karyotype in a 14 year old boy who was initially diagnosed as having Noonan's syndrome. He made an early response to recombinant growth hormone; this suggests that this treatment may improve final height.
PMCID: PMC1792831  PMID: 2001114
4.  Incidence of familial Hodgkin's disease. 
British Journal of Cancer  1983;47(5):707-712.
The family histories of 131 patients with histologically defined Hodgkin's disease (HD) were studied and 2,517 first and second degree relatives and spouses were identified and followed-up. The causes of death in deceased relatives were ascertained from death certificates. The numbers of deaths from selected causes were compared with the numbers that would be expected if the relatives had suffered the same mortality rates as the Scottish national population. A 4-fold increase in deaths due to HD was found among first and second degree relatives of patients with the disease (6 cases observed compared with 1.4 expected). Five of the 6 familial cases were related to index patients with the mixed cellularity form of the disease, the remaining case was the brother of a patient with the lymphocyte-depleted form of the disease. The increased risk was seen among relatives of both young and older patients and there was no consistent intrafamilial similarity in age of onset or time of onset of disease.
PMCID: PMC2011375  PMID: 6849804
5.  Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly. 
Journal of Medical Genetics  1982;19(1):49-56.
Testicular biopsies from eight men with abnormal karyotypes have been examined for histological and cytogenetic evidence of disturbances of meiosis. Quantitative analysis of this material showed one, with a 13;14 Robertsonian translocation, to have apparently normal spermatogenesis. Three patients, one with a 47,XYY and two with 45,XY, inv 9 karyotypes, had an overall depression of spermatogenesis. Four others, all with major chromosomal abnormalities, had apparently normal spermatogenesis until the primary spermatocyte stage. Two of these had sex autosomal translocations. One, 45,Y,t(X;21), had a complete block at MI, the other, 46,X,t(Y;16), had a partial block at spermatid formation. One man with a reciprocal 2;10 translocation showed delay at all stages beyond spermatocyte formation and one man with an inversion of chromosome 3 showed impaired spermatid maturation.
PMCID: PMC1048819  PMID: 7069747
7.  Prenatal exclusion testing for Huntington's disease: a problem of too much information. 
Journal of Medical Genetics  1989;26(2):83-85.
At eight weeks of pregnancy a couple were informed that the prospective father's mother had died of Huntington's disease (HD). There were no living affected members in the immediate family to confirm the diagnosis. By inspection of the local genetic register, it was established that it was indeed HD segregating in the extended family. Genotyping of the prospective mother and father, the father's unaffected father, and his unaffected maternal grandmother was carried out using a battery of polymorphic DNA markers, including a new probe which has a very low recombination rate with the HD locus. Analysis of DNA from a chorionic villus sample taken at 10 weeks of pregnancy showed that the fetus must have inherited a chromosome from its father's affected mother. Its risk of developing HD was 47%. If the genotype of the unaffected maternal grandmother was taken into account, the risk was reduced to 42%. Neither risk was considered acceptable by the prospective parents and the pregnancy was terminated at 12 weeks' gestation. Prospects for future pregnancies are good, with a 50% chance of having a child whose risk of inheriting the HD gene is less than 1.5%. In retrospect it was noted that although genotyping of the maternal grandmother had refined the fetal risk, it had also nearly contributed to an inadvertent and unwanted predictive test for HD on the father. This case makes the point that in prenatal exclusion testing, linkage information must be generated with considerable care.
PMCID: PMC1015555  PMID: 2563777
8.  Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11). 
Journal of Medical Genetics  1987;24(4):225-227.
A child with an unbalanced translocation resulting in monosomy for chromosomes 22 (q11----pter) and 3(p25----pter) is described. Although no immunological dysfunction could be demonstrated, the abnormalities found are similar to those seen in the di George syndrome which has been associated with monosomy for the same region of chromosome 22.
PMCID: PMC1050000  PMID: 3585938
10.  A female with the 48,XXXX karyotype. 
Journal of Medical Genetics  1970;7(1):83-85.
PMCID: PMC1468910  PMID: 5480970
11.  Screening for Down's syndrome based on individual risk. 
BMJ : British Medical Journal  1991;303(6802):551-553.
OBJECTIVE--To evaluate the effectiveness of biochemical screening of individual pregnancies for Down's syndrome risk. DESIGN--Retrospective determination of risk. SETTING--Obstetric and cytogenetic services in Tayside, Scotland. SUBJECTS--3436 pregnant women who had screening for neural tube defects in the second trimester during November 1988 to March 1990 and whose pregnancies were dated by ultrasonography. Three women with pregnancies associated with Down's syndrome reported later in 1990. MAIN OUTCOME MEASURES--Individual risk calculated from age at estimated date of delivery; chorionic gonadotrophin and alpha fetoprotein concentrations in serum samples obtained at precisely determined gestational ages in second trimester. Results of karyotype determination and outcome of pregnancy. RESULTS--During November 1988 to March 1990 karyotypes were determined for 5% of pregnancies for reasons of maternal age and genetic history and one of the eight affected fetuses was detected. Individual risk could not be calculated for 347 pregnancies, but screening on this basis would have detected five of the cases and required screening in 194 out of 3089 (6.3%) pregnancies; all three affected pregnancies reported later in 1990 would also have been detected, giving a success rate of 73% (95% confidence interval 39% to 94%). The age distribution of women according to individual risk suggests that women over 35 would be screened effectively. CONCLUSION--Screening based on individual risk would use resources more effectively than screening based on maternal age and genetic history without affecting detection rates in older women.
PMCID: PMC1670854  PMID: 1717087
12.  Isodicentric X chromosome in a moderately tall patient with gonadal dysgenesis: lack of effect of functional centromere on inactivation pattern. 
Journal of Medical Genetics  1982;19(6):463-465.
An isodicentric X chromosome (46, X idic (X)(pter leads to qter::qter leads to pter)) with a single functioning centromere was found in all lymphocytes and fibroblasts examined from a female patient 171.5 cm in height presenting with primary amenorrhoea. Replication of the abnormal chromosome was consistently late. In some cells the pattern was asymmetrical but the asymmetry did not appear to relate to the position of the active centromere.
PMCID: PMC1048964  PMID: 7154045
13.  Comparative studies of spermatogenesis in fertile and subfertile men. 
Journal of Clinical Pathology  1981;34(2):145-150.
Testicular biopsy specimens from 16 fertile and 10 subfertile men with normal male karyotype were studied quantitatively to provide histological and cytogenetic data for a basis of reference in assessing abnormalities of spermatogenesis. Histological studies included estimation of the proportion and activity of germinal epithelium and an assessment of tubular morphology. In cytogenetic preparations, counts were made of cells at different stages of meiosis. Studies of cells at diakinesis included chiasma counts and percentage of cells with dissociated sex chromosomes. One fertile and six subfertile men showed decreased germinal activity; the six subfertile men also had decreased MII/MI ratios. Other findings were similar in the two groups.
PMCID: PMC1146440  PMID: 7229093

Results 1-13 (13)