澳洲大蠊染色体的研究

对澳洲大蠊的染色体进行了研究。染色体核型为雌2n=28、雄2n=27,除第7对为亚中着丝点外其余均为中着丝点。     

蟑螂:长沙地区德国小蠊的染色体核型

作者改进了染色体标本制作方法,对长沙地区德国小蠊的染色体核型进行了研究。染色体散开满意,核型清楚。德国小蠊的染色休核型雌2n=24;雄2n=23。     

First rib hypoplasia in Patau's disease

Absctract Radiological evidence of hypoplasia or aplasia of the first rib is very often ignored as an indicative sign of 13 trisomy syndrome. Unless specifically sought for it is a feature which may be missed: it is nevertheless a remarkably frequent element of the disease picture. In the 4 personal cases now presented it was consistently present. An extensive survey of the literature lends support to the view that this symptom is of pathognomonic importance. Its significance from the genetic standpoint is also discussed.     

The clinical and genetic picture of trisomy 18 (Edwards' syndrome)

Six patients with Edwards' syndrome were studied. One child (case 2) was found to have a structural anomaly of a B chromosome as well as an extra chromosome of pair No. 18: 47,XY,18+,inv.(Bp+q-). Case 3 showed additional malformations not commonly present in Edward's syndrome. Case 4 was a twin; the twin sister was clinically and chromosomally normal. In case 6, which came to our attention after the discovery of the banding technique, it was possible to diagnose as trisomy 18 unequivocally by this method. Some striking features of the dermatoglyphics and creases are discussed.

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Zusammenfassung Es wurde über 6 Patienten mit Edwards-Syndrom berichtet. Ein Kind (Fall 2) zeigte außer Extrachromosom Nr. 18 eine strukturelle Anomalie eines B-Chromosoms: 47,XY,18+,inv.(Bp+q-). Bei Fall 3 waren einige beim Edwards-Syndrom unübliche Mißbildungen vorhanden. Bei dem 4. Kind handelte es sich um eine Zwillingsgeburt, die Zwillingsschwester war klinisch und chromosomal normal. Ein Fall von Trisomie 18, der uns nach der Entdeckung der Bandentechnik bekannt wurde, konnte, mit dieser Technik einwandfrei als Trisomie 18 diagnostiziert werden. Einige Auffälligkeiten im Bereich der Dermatoglyphen wurden demonstriert.

     

应用连锁分析方法对X连锁型视网膜色素变性进行基因诊断的研究

目的 探讨用连锁分析方法对Ｘ连锁型视网膜色素变性（ＲＰ）进行基因诊断的可行性。方法 选用ＲＰ３及ＲＰ２所在染色体区间,即Ｘｐ２１．１￣ｐ１１．２３的１０个微卫星染色体位标,对Ｘ连锁型ＲＰ家系了连锁分析,通过家系成员的单倍型分析,确定致病基因所在的染色体位置,进而判定欲检修个体是否携带该染色体区段。结果 确定４个Ｘ 锁隐性ＲＰ家系致病基因在ＲＰ３和ＲＰ２的染色体区间,对家系中的年幼女性是否为携带者。     

自然流产夫妇染色体着丝粒点的研究

对２０对自然流产夫妇（流产组）和１０对已生育正常胎儿并无自然流产史的夫妇（对照组）的外周血染色体着丝粒点（Ｃｄ）进行分析。结果：Ｃｄ消失频率，流产组和对照组分别平均为０．３６±０．１５／细胞和０．２２±０．１３／细胞，两组比较，差异有极显著意义（Ｐ＜０．０１）。小Ｃｄ频率，流产组和对照组分别平均为０．３４±０．１４／细胞和０．３９±０．２８／细胞，两组比较，差异无显著意义（Ｐ＞０．０５）。着丝粒点－核仁组织者区（Ｃｄ－ＮＯＲ）融合频率，流产组和对照组分别平均为０．３１±０．２０／细胞和０．２０±０．１９／细胞，两组比较，差异有显著意义（Ｐ＜０．０５）。提示：自然流产夫妇Ｃｄ消失和Ｃｄ－ＮＯＲ融合频率增高，可能是造成自然流产的原因之一，对自然流产夫妇的Ｃｄ频率进行检测，有一定的临床意义。     

A causal relationship between chromosomal rearrangements and the genesis of salivary gland pleomorphic adenomas

Summary The results of chromosome analyses performed on 50 pleomorphic salivary gland adenomas in Germany are summarized herein and compared with those obtained on 100 adenomas studied in Sweden. In both series, characteristic or even specific structural chromosomal rearrangements involving either chromosome 8 or 12 were found that allowed the cytogeneticist to distinguish between subgroups. However, the significantly higher percentage of tumors with chromosome abnormalities in the adenomas examined in Germany is particularly noteworthy. In the near future, cytogenetic investigations together with molecular methods will allow investigators to describe basic mechanisms for the development of pleomorphic adenomas in terms of oncogenetics.     

Chromosome rearrangements in improved cephalosporin C-producing strains of Acremonium chrysogenum

Summary A number of A. chrysogenum strains from a lineage improved in cephalosporin C production were analysed by contoured-clamped homogenous electric field gel electrophoreis (CHEF). Although antibiotic titre was increased across the lineage, chromosome rearrangements were only observed at two points in it. In one member of the lineage the chromosomal changes included those which altered the size of the chromosome on which the isopenicillin N synthetase gene (pcbC) was located. It is proposed that chromosome changes are a chance event in an industrial strain improvement programme.     

Trisomy 18 mosaicism: Clues to the diagnosis

Karyotypes of blood and skin fibroblasts at ages 3 and 8.5 years had shown non-mosaic trisomy 18 in a male now of age 19. Because of his prolonged survival and an atypical phenotype, skin fibroblast cultures from a new biopsy were established at age 1 8 , and only normal 46, XY cells were observed, while peripheral blood lymphocytes still demonstrated 47, XY,+18. This patient and six others with trisomy 18 mosaicism illustrate the advisability of looking for such a pattern in individuals whose phenotype in early life is not fully consistent with the trisomy 18 syndrome. Additional clues to the presence of trisomy 18 mosaicism are male sex, survival beyond 2 years and lack of fingertip arches.     

Keratosis pilaris and prevalence of acne vulgaris: a cross-sectional study

BACKGROUND

Acne vulgaris has an important genetic predisposition, as well as keratosis pilaris. Clinical observations suggest that patients with keratosis pilaris have less frequent or less severe acne breakouts; however, we found no studies on this regard

OBJECTIVE

To determine if the presence of keratosis pilaris is associated with lower prevalence and severity of acne.

METHODS

A cross-sectional study was conducted with dermatology outpatients aged between 14 and 35 years. We evaluated history and clinical grade of acne, demographic variables, history of atopy, smoking, and use of hormonal contraceptives. Two groups were defined by the presence or absence of moderate to severe keratosis pilaris on the arms and were compared by bivariate analysis and by conditional multiple logistic regression.

RESULTS

We included 158 patients (66% women), with a median age of 23±11 years. Twenty-six percent of them had keratosis pilaris, which was associated with a history of atopy (odds ratio [OR]=2.80 [1.36 to 5.75]; p<0.01). Acne was present in 66% of subjects, and was related to family history of acne (OR=5.75 [2.47 to 13.37]; p<0.01). In bivariate and multivariate analysis, the group with keratosis pilaris had a less frequent history of acne (OR=0.32 [0.14 to 0.70]; p<0.01).

CONCLUSION

The presence of moderate to severe keratosis pilaris on the arms was associated with lower prevalence of acne vulgaris and lower severity of facial lesions in adolescents and young adults.