A new characteristic chromosome anomaly t(l1; 14)(q14;q32?) in lympho-proliferative disorders (LPD) is described in 4 cases. The extra material was found on a # 14 chromosome (14q+) and belonged to the long arm of one # 11 chromosome in 3 cases and to the long arm of a #14 in the other case. These cases confirm that the distal end of chromosome 14q may function as a "re-ceptor site," according to the hypothesis of Kaiser-McCaw et a2." and also tend to indicate that chromosome #14 may not be unique in showing so-called "donor" and "receptor sites," and that other chromosomes, in casu chromosome #11, may behave similarly. Cancer 44:188-195, 1979. YTOGENETIC STUDIES I N malignant C lymphoma have been performed ever since reliable analysis of human chromosomes became available. Besides some individual cases, a number of papers with series of malignant lymphomas studied before banding techniques were introduced have been published -Sandberg et aLZ5 Baker and Atkin,' Sasaki et a1.,26 Miles et aZ.," Millard,lS and Spiers and Baikie.28 Even though the nature of the tissues that were investigated and the methodologies used varied considerably, these studies generally agreed on the following points: 1) many and possibly the majority of lymphomas show karyotypic anomalies, and these are more prevalent in less well differentiated tumors, 2) numerical anomalies are frequent, and the modal chrpmosome numbers of the abnormal cells are in the diploid or hyperdiploid range with some cases being near tetraploid (hypodiploidy is rare), and 3) structural chromosome abnormalities are frequently observed, but no characteristic
A possibly new mental retardation syndrome is described in a large family. The major features of the syndrome are: short stature, craniofacial dysmorphism and dento‐skeletal abnormalities. The mode of inheritance of this syndrome appears to be autosomal dominant with a variable degree of expressivity.
The possible similarity to another autosomally dominant inherited mental retardation syndrome, “the K.B.G. syndrome” as described by Hermann et al. (1975), is discussed.
A 15-year-old deeply mentally retarded male is described with partial distal 17q trisomy (17q22 replaced by 17qter),as the result of a de novo 17q/21p translocation. Differential Ag-staining showed that the satellites of chromosome 21 were included in the translocation chromosome.
Two profoundly mentally retarded brothers with partial trisomy for the distal part of the short arm of chromosome 3 (3p25 to 3pter) are described. Their anomaly arose as a segregation product of a balanced t(3p-;18q+) translocation in the mother. Compared with the other cases of partial 3p trisomy reported up to now, the present patients display a similar craniofacial dysmorphism with hypertelorism, broad nasal tip, short upper lip with prominent philtrum, and a large mouth with down-turned corners. Other stigmata, such as a prominent, high forehead with frontal bossing and full cheeks, were present during childhood but progressively disappeared.
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