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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
3.  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
4.  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
5.  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
6.  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
7.  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

Results 1-7 (7)