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author:("pritchett, M")
1.  Solid tissue culture for cytogenetic analysis: a collaborative survey for the Association of Clinical Cytogeneticists. 
Journal of Clinical Pathology  1996;49(8):638-641.
AIMS: To survey the diagnostic service provided by UK laboratories for the culture of solid tissue samples (excluding tumours) and in particular to examine the variation in culture success rates and the problems of maternal cell overgrowth. METHODS: Twenty seven laboratories took part in a collaborative survey during 1992. Each laboratory submitted data on up to a maximum of 60 consecutive specimens (n = 1361) over a six month period. RESULTS: Skin specimens, the largest category received (n = 520), were the most problematic (51% success rate). Culture success rates were significantly lower (43%) when skin specimens (n = 140) were transported dry to the laboratory. Success rates for skin specimens also varied, depending on the origin of the specimen, from 18% for intra-uterine deaths (IUD) (n = 94) to 85% for neonatal deaths (n = 33) and 83% for live patients (n = 54). Culture of selected extra-fetal tissues from IUD, stillbirths and following elective termination of pregnancy (TOP) gave comparable success rates to those achieved for skin samples from neonatal deaths and live births. Skewed sex ratios, female > male, were identified for products of conception (POC) (n = 298) and placental biopsy specimens (n = 97). CONCLUSIONS: By appropriate selection, transport and processing of tissues, and in particular by avoiding relying solely on skin samples from IUD, stillbirths and TOP, an increase in culture success rates for solid tissue samples submitted for cytogenetic analysis could be achieved. The high risk of maternal cell contamination from POC and placental biopsy specimens was also identified in this survey.
PMCID: PMC500606  PMID: 8881913
2.  Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements. 
Journal of Medical Genetics  1998;35(9):722-726.
We have previously described a fluorescence in situ hybridisation (FISH) assay for the simultaneous analysis of all human subtelomeric regions using a single microscope slide. Here we report the use of this multiprobe FISH assay in the study of a patient whose karyotype was reported by G banding analysis as 46,XX,del(18)(p11.2). Although the proband had some features suggestive of a chromosomal abnormality, relatively few of the specific features of del(18p) were present. She was a 37 year old female with mild distal spinal muscular atrophy (SMA), arthritis of the hands, an abnormal chest shape (pectus excavatum), and an unusual skin condition (keratosis pilaris). Reverse chromosome painting with degenerate oligonucleotide primer-polymerase chain reaction (DOP-PCR) amplified del(18p) chromosomes as a probe confirmed the abnormality as del(18p), with no evidence of any other chromosome involvement. Subsequently, the multiprobe FISH assay confirmed deletion of 18p subtelomeric sequence. However, the assay also showed that sequences corresponding to the 2p subtelomeric probe were present on the tip of the shortened 18p. The patient is therefore monosomic for 18p11.2-pter and trisomic for 2p25-pter, and the revised karyotype is 46,XX,der(18)t(2;18)(p25; p11.2). We believe that a proportion of all cases reported as telomeric deletions may be cryptic translocations involving other chromosome subtelomeric regions. Further studies such as this are necessary to define accurately the clinical characteristics associated with pure monosomy in chromosomal deletion syndromes.
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PMCID: PMC1051423  PMID: 9733029
3.  Interstitial deletion of band 3q25. 
Journal of Medical Genetics  1997;34(5):430-432.
Interstitial deletions of the long arm of chromosome 3 are rare. We report a man with an interstitial deletion involving band 3q25. To our knowledge, this is the first patient to be described with this cytogenetic abnormality.
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PMCID: PMC1050955  PMID: 9152845
4.  Neurofibromatosis and childhood leukaemia/lymphoma: a population-based UKCCSG study. 
British Journal of Cancer  1994;70(5):969-972.
There is a well-known raised risk of leukaemia in children with neurofibromatosis type 1 (NF-1). We carried out the first detailed population-based study of leukaemia and non-Hodgkin lymphoma (NHL) associated with NF-1 in order to estimate the risk and elucidate the relationship between these conditions. Over the 17 year study period there were five cases of chronic myelomonocytic leukaemia (CMML) in patients with NF-1 (relative risk 221; 95% CI 71-514), 12 cases of acute lymphoblastic leukaemia (ALL) (relative risk 5.4; 95% CI 2.8-9.4) and five cases of NHL (relative risk 10.0; 95% CI 3.3-23.4). Marrow cytogenetics could be reviewed for seven patients. Specific abnormalities found were monosomy 21 in a child with CMML and 7p+, 17p- in a child with ALL. No abnormalities were reported of 17q, which includes the NF1 gene. CMML occurred predominantly in boys, who also had a family history of NF-1. ALL and NHL were more often found in children with no previous family history.
PMCID: PMC2033537  PMID: 7947106
5.  Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? 
Journal of Medical Genetics  1994;31(4):325-327.
We report a patient with total colonic aganglionosis in association with a deletion of part of the long arm of chromosome 10: (del(10)(q11.2q21.2)). This deletion includes the ret proto-oncogene, which has recently been implicated in multiple endocrine neoplasia type 2A (MEN 2A). The possible links between Hirschsprung's disease and the neurocristopathies and the aetiological role of abnormalities of neural crest development in these conditions are discussed.
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PMCID: PMC1049807  PMID: 7915329
7.  Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. 
Journal of Medical Genetics  1990;27(1):59-63.
We describe two females with de novo X;Y translocations, who presented at birth with irregular linear areas of erythematous skin hypoplasia involving the head and neck, along with eye findings that included microphthalmia, corneal opacities, and orbital cysts. The features in these children are similar to but distinct from those seen in females with Goltz syndrome and incontinentia pigmenti. Cytogenetic analysis has shown the X chromosome breakpoint in both females to be at Xp22.3. We suggest that this syndrome is the result of a deletion or disruption of DNA sequences in the region of Xp22.3.
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PMCID: PMC1016884  PMID: 2308157
8.  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
9.  The association of Angelman's syndrome with deletions within 15q11-13. 
Journal of Medical Genetics  1989;26(2):73-77.
The inheritance of Angelman's syndrome, a disorder characterised by mental retardation, epilepsy, ataxia, and a happy disposition, is debated because affected sibs occur less frequently than expected with autosomal recessive inheritance. After discovering two unrelated patients with a small deletion of the proximal long arm of chromosome 15, 10 further patients with Angelman's syndrome were reassessed. Five had apparently normal karyotypes, four had a deletion within 15q11-13, and one had a pericentric inversion, inv(15)(p11q13) involving the same chromosomal region. In the latter case, the healthy mother had the same pericentric inversion, indicating that the patient also had a submicroscopic mutation on his other chromosome 15. These data map the Angelman locus to 15q11-13 and suggest that de novo visible deletions (associated with a low recurrence risk) and autosomal recessively inherited cases combine to give an overall sib recurrence risk of less than 25%.
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PMCID: PMC1015553  PMID: 2918545
10.  Detection of chromosomal 7 loss in myelodysplasia using an extremely polymorphic DNA probe. 
British Journal of Cancer  1988;57(2):131-134.
Chromosomal loss is a characteristic feature of the myelodysplastic syndromes (MDS). A method is described which detects chromosomal 7 loss in MDS by DNA analysis using a specific hypervariable region gene probe which has been cloned from a human DNA fingerprint. Loss of one of the chromosomal 7 homologues was demonstrated in 10/118 MDS patients; the ten patients include all the five patients which had previously been shown to have monosomy 7 by cytogenetic analysis. This technique makes it feasible to study serial samples from large numbers of patients for loss of chromosomal material and could be readily applied to the study of other human malignancies.
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PMCID: PMC2246429  PMID: 3358903
11.  Polycythaemia rubra vera and hairy cell leukaemia in the same patient: studies on the spleen 
Journal of Clinical Pathology  1982;35(12):1312-1315.
The first association of polycythaemia rubra vera (PRV) and hairy cell leukaemia (HCL) is reported. The secretion by spleen cells in short term culture of IfGλ to the exclusion κ demonstrated that despite aberrant surface marker studies the HCL was a monoclonal tumour of B cells. Chromosomal studies on splenic cells were not able to demonstrate the common clonal origin of the two tumours.
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PMCID: PMC497968  PMID: 7174843
12.  Predictability of VO2 max from submaximal cycle ergometer and bench stepping tests. 
The predictability of the maximal oxygen uptake (VO2 max) was studied using progressive and steady state protocols for cycle ergometry and bench stepping. The subjects were 12 healthy men, 23-58 years old. Prediction of VO2 max was made by extrapolation of the heart rate and O2 uptake at several sub-maximal work-loads using the least squares regression technique. The four sub-maximal procedures underestimated the measured VO2 max by between 0.13-0.55 l.min-1. The differences between the measured and predicted values were statistically significant for the tests involving the steady state protocol. The correlation coefficients between the predicted VO2 max for each of the submaximal tests, and the measured VO2 max, were significant at the .05 level. The results indicate that for a group of male subjects VO2 max can be predicted using the progressive protocol on either the cycle ergometer or stepping bench. Individual predictions are liable to considerable error.
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PMCID: PMC1478528  PMID: 4027499

Results 1-14 (14)