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1.  A linkage study of a large pedigree with X linked centronuclear myopathy. 
Journal of Medical Genetics  1990;27(5):281-283.
Centronuclear myopathy (CNM) is a muscle wasting disorder that occurs in three distinct forms. Previous studies have shown linkage between the X linked form of the disease and the Xq28 probes ST14, DX13, and F8C. Our study on a previously unreported, three generation, X linked CNM family confirms linkage between these markers and the CNM locus (Z = 3.21, theta = 00). However, results from the laboratory of J-L Mandel (Samson and Hanover, personal communication) on a number of X linked CNM families exclude genetic linkage from the region Xq26-qter, suggesting genetic heterogeneity in this condition.
PMCID: PMC1017075  PMID: 2352255
2.  Unilateral absence of the hand in second cousins. 
Journal of Medical Genetics  1989;26(3):190-192.
This paper reports two second cousins with absence of the left hand.
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PMCID: PMC1015581  PMID: 2709395
3.  Interstitial deletion of distal 13q associated with Hirschsprung's disease. 
Journal of Medical Genetics  1989;26(2):100-104.
Three cases of interstitial deletion of chromosome 13 involving the common segment 13q22.1----q32.1 are reported. In addition to the recognised clinical features of this deletion, two had Hirschsprung's disease.
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PMCID: PMC1015558  PMID: 2918536
4.  Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue? 
Journal of Medical Genetics  1989;26(1):51-54.
We describe two sisters with hydrocephalus, tall stature, joint laxity, and thoracolumbar kyphosis.
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PMCID: PMC1015537  PMID: 2918526
5.  Aetiology of mild mental retardation. 
Archives of Disease in Childhood  1988;63(9):1032-1038.
A clinical and family study was carried out in 169 children attending schools for the mildly mentally retarded in Southampton to assess the prevalence of recognised medical risk factors; 71 children (42%) had such risk factors. These were prenatal in 22, perinatal in 41, and postnatal in eight. Risk factors of possible, but less certain, significance were found in a further 63 children (37%). In 86 families (51%) there was a history of serious educational problems in both parents. The prevalence of both types of risk factor was higher in the children whose parents had no educational problems. There were, however, 25 children (15%) whose parents had no history of educational problems and in whom medical risk factors were either absent or minimal.
PMCID: PMC1779131  PMID: 3178264
6.  Chromosome abnormalities in pupils attending ESN/M schools. 
Archives of Disease in Childhood  1986;61(3):223-226.
One hundred and sixty six children attending educationally subnormal/mild (ESN/M) schools were karyotyped as part of a project investigating the aetiology of mild mental retardation. Nine had significant chromosome abnormalities. Five of six children identified during the survey had no dysmorphic features--47,XXY (two), 48,XXYY, 46,XX 15q-, and 46,XX,t(X;19). One dysmorphic boy had a balanced translocation--46,XY,t(3;15). Three were already known--47,XX+21 (two) and 46,XY, 14q+. We suggest that routine karyotyping of children with mild mental retardation be considered.
PMCID: PMC1777694  PMID: 2421647
7.  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.
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PMCID: PMC1048964  PMID: 7154045
8.  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.
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PMCID: PMC1048819  PMID: 7069747
9.  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 1-9 (9)