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Deletion on long arm of a chromosome 18 (46, XX, 18 q-) 总被引:2,自引:0,他引:2
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Rare case of mosaicism for chromosome 18, karyotype: 46, XX, del(18) (p11)/46, XX, i(18q) 总被引:1,自引:0,他引:1
Rare mosaicism of chromosome No 18 is described. The proposita is 5.5 years old and has two cell clones: 50% of cells are monosomic for 18p and 50% have isochromosome i18q. The ratio of these clones (1:1) is found to be similar at the age of the proposita 2.5 and 5.5 years. The proposita has some phenotypic characters of both 18p- (ptosis, epicanthus, deformed carious teeth, falled back sternum etc.) and trisomy 18q (contraction of external auditory meatus, femur luxatus congenitus etc.) syndromes. A possible mechanism for the origin of such a mosaicism is discussed. 相似文献
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Inheritance of ring chromosomes is reported infrequently. The authors report on a phenotypically and mentally normal mother with ring chromosome 18 mosaic with a normal cell line and her polymalformed son with non-mosaic 46,XY,r(18) karyotype. 相似文献
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S Suciu 《Annales de génétique》1985,28(2):123-124
A phenotypically normal female was found to have a chromosome 8 short arm deletion in a low percentage of the cells. The reduced proportion of monosomic cells in relationship with proband's age are discussed. 相似文献
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S. Robert Young Denis M. Donovan Harry A. Greer Kay Burch David C. Potter 《Human genetics》1976,33(3):331-334
Summary A 3-year-old child with tertiary trisomy 14 (+14q-), daughter of a mother with a balanced reciprocal translocation [46,XX,t(14;16) (q11;q24)] is presented. Craniostenosis and developmental retardation were the primary presenting features in this patient.Operated by the University of Chicago for the U.S. Energy Research and Development Administration.This study was supported by the South Carolina Department of Mental Health. 相似文献
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Familial 18 q- syndrome 总被引:1,自引:0,他引:1
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Summary A female patient is reported with lymphocyte chromosome chimerism (46,XX/46,XY). Her whole-body chimerism was confirmed in the AB0 blood group system by the presence of two different erythrycyte populations, A10 and 00. Normal findings were recorded at physical and gynecological examination, except for mammary hypoplasia and sterility of 7 years duration, the latter complaint being the cause for genetic examination of the patient. 相似文献