Acta geneticae medicae et gemellologiae最新文献_第10页

Maternal uniparental disomy for chromosome 14. 14号染色体的母亲单亲二体。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000001264

D A Coviello, E Panucci, M M Mantero, C Perfumo, M Guelfi, C Borrone, F Dagna Bricarelli

引用次数: 39

Pediatric hepatology: present and future. 儿科肝病:现在和未来。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000000970

L Zancan

引用次数: 0

The assessment of the umbilical blood flow of the surviving twin after the intrauterine death of the other twin. 在另一个双胞胎宫内死亡后幸存双胞胎的脐血流量评估。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000000982

W Malinowski, W Dec, I Biskup

引用次数: 3

Temperament development to 30 months of age in discordant twin pairs. 不和谐双胞胎的性情发展到30个月大。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000000830

M L Riese

{"title":"Temperament development to 30 months of age in discordant twin pairs.","authors":"M L Riese","doi":"10.1017/s0001566000000830","DOIUrl":"https://doi.org/10.1017/s0001566000000830","url":null,"abstract":"Twins within pairs often have different weights at birth. A difference of 15% or greater is defined as discordance for weight and is considered to place one or both infants at risk. Temperature differences had been found in the neonatal period for fullterm discordant cotwins, but not for preterm discordant cotwins, suggesting that continued gestation for discordant twins was a risk variable for early behavior. 30 pairs of fullterm and 17 pairs of preterm discordant pairs were followed at 6, 9, 12, 18, 24, and 30 months of age. Group differences were observed for the longitudinal maintenance of cotwin discordance in physical measures, with preterm cotwins becoming more like each other. In laboratory assessments, temperament differences no longer were observed between the larger and smaller cotwins. Questionnaires indicated that mothers generally did not differentiate between their larger and smaller cotwin children in temperament ratings, except for ratings of mood for the fullterm pairs. Thus, emotionality was the only temperament dimension that differentiated between the fullterm discordant twins both in the neonatal period and at later ages. In the main, it was concluded that the fullterm discordant twins overcame the adverse in-utero influences on early behavioral development.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 4","pages":"439-47"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000830","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20127463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Genetic and molecular studies on Om, a locus controlling mouse preimplantation development. 小鼠着床前发育控制位点Om的遗传与分子研究。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000001033

M Cohen-Tannoudj, P Balducci, C Kress, V Richoux-Duranthon, J P Renard, C Babinet

引用次数: 10

Phenotype-karyotype-genotype correlations in Prader-Willi and Angelman syndromes: preliminary results. Prader-Willi综合征和Angelman综合征的表型-核型-基因型相关性:初步结果。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000001355

A Cecconi, D J Halley, A Salvi, C Balestrieri, E Lapi, S Lenzi, U Ricci, M L Giovannucci Uzielli

引用次数: 0

A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat]. 贝克威氏综合征11p15父本重复1例新病例[46,XY，-21，+der(21)， t(11;21)(p15.2;q22.3)部分]。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000001392

M Krajewska-Walasek, A Gutkowska, M Mospinek-Krasnopolska, K Chrzanowska

{"title":"A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat].","authors":"M Krajewska-Walasek, A Gutkowska, M Mospinek-Krasnopolska, K Chrzanowska","doi":"10.1017/s0001566000001392","DOIUrl":"https://doi.org/10.1017/s0001566000001392","url":null,"abstract":"We present a new case of 11p15 duplication (trisomy 11p15) in a boy (46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)] suffering from Beckwith-Wiedemann syndrome (BWS), whose phenotypically normal father carries a balanced translocation between chromosomes 11 and 21[46,XY, t(11;21)(p15.2;q22.3)]. The paternal grandmother has the same balanced translocation and is also clinically normal. BWS was suspected when the boy was 6 months old because of gigantism, macroglossia, visceromegaly, ear lobe creases and abdominal distention. Apart from the characteristic BWS phenotype, the boy has other features which are almost exclusively observed in 11p trisomy (high forehead with frontal upsweep of hair, wide central nose bridge, slightly beaked nose, chubby cheeks and severe mental retardation). So far, at least eight cases of 11p15 duplication have been described as patients with BWS. In six of these, the duplication was due to inheritance of a translocated or rearranged paternal chromosome. This was also the case in our patient. In the two other previously published cases, the 11p15 duplications were de novo, but in one of these, DNA analysis has subsequently shown that the duplication was of paternal origin. We discuss our observations in relation to the above-mentioned previous cases of 11p15 duplication and the possible role of genomic imprinting in the etiology of BWS.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 1-2","pages":"245-50"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000001392","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19837917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 10

Analysis of triplet repeats of the FRAXA locus using a novel sequencing procedure. 使用新的测序程序分析FRAXA基因座的三联体重复序列。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000001471

S Barlati, L Belletti, R Gardella, S Ferraboli

引用次数: 0

Tuberous sclerosis: between genetic and physical analysis. 结节性硬化症:遗传与物理分析之间。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000001112

D J Halley

引用次数: 11

Asynchronous replication patterns of imprinted genes in triploid cells. 三倍体细胞中印迹基因的异步复制模式。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000001318

A Argyriou-Tirita, K Romanakis, P Kroisel, O A Haas

引用次数: 0