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Summary A patient with typical Potter's syndrome and full trisomy 7 is described. All previous reports on chromosome 7 abnormalities, whether monosomic or trisomic, p or q, are reviewed and discussed, establishing two 7q trisomy snydromes: 7q227q31 and 7q22, q317qter. Some implications of the finding of full trisomy 7 in a case of Potter's syndrome are discussed.  相似文献   

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A 46,XY/46,XY,r(4) mosaicism is described in a malformed male newborn with bilateral renal agenesis. A review of the phenotypic findings in the previously reported ring chromosome 4 patients is made and the importance of the detection of chromosomal abnormalities towards the nosology of malformation sequences is discussed.  相似文献   

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A report on the first European Keystone symposium 'Multi-protein complexes involved in cell regulation', Cambridge, UK, 18-23 August 2006.  相似文献   

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A report on the first European Keystone symposium 'Multi-protein complexes involved in cell regulation', Cambridge, UK, 18-23 August 2006.  相似文献   

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