Acta geneticae medicae et gemellologiae最新文献

{"title":"Mosaic partial trisomy of chromosome 5 (q33-q ter) associated with fetal polycystic kidneys.","authors":"A Kriplani,&nbsp;N Banerjee,&nbsp;V Jobanputra,&nbsp;K Kucheria","doi":"10.1017/s0001566000000295","DOIUrl":"https://doi.org/10.1017/s0001566000000295","url":null,"abstract":"<p><p>A case of de novo mosaic partial trisomy of chromosome 5 (q33-q ter) in a stillborn male fetus with bilateral polycystic kidneys, and atrial septal defect, is reported. Fetal cord blood sampling was carried out at 25 weeks of gestation because of bilateral polycystic kidneys with severe oligohydramnios observed on ultrasound examination of the fetus. The family history was notable for the presence of similar phenotypic abnormality in the mother and sibling. However, no chromosomal abnormality was detected in other family members. Significance of this rare chromosomal abnormality and its association with congenital malformations in the fetus and in the family is being discussed.</p>","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"47 2","pages":"125-9"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000295","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21633190","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}

{"title":"Ultrasound in the diagnosis of twin-to-twin transfusion syndrome--a preliminary report.","authors":"M Ropacka,&nbsp;W Markwitz,&nbsp;W Ginda,&nbsp;G H Breborowicz","doi":"10.1017/s0001566000000155","DOIUrl":"https://doi.org/10.1017/s0001566000000155","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to show the diagnostic possibilities of ultrasound in twin-to-twin transfusion syndrome (TTTS), to demonstrate its usefulness in cases of hemoglobin difference < 5 g/dL in neonates as well as in cases complicated by intrauterine death of one or both twins.</p><p><strong>Study design: </strong>The study included 4 pairs of twins. In two cases 3 fetuses died in utero. In the other two the hemoglobin difference in newborn infants was < 5 g/dL. The ultrasound examination, evaluating the fetal anatomy and biometry, amniotic fluid volume, placentation, was performed. The special attention was paid to polyhydramnios/oligohydramnios, discordant fetal growth (fetal weight, abdominal circumference), the presence of fetal hydrops, ascites, pericardial effusion. Doppler blood flow velocimetry has been done in umbilical vessels, middle cerebral artery. The data was compared with normal reference values for singleton pregnancies. The waveforms from both uterine arteries were also evaluated to exclude placental insufficiency. Additionally the blood flow through the AV valves was measured to exclude or confirm its regurgitation. Postnatally the hemoglobin difference was evaluated if available and compared with sonographic findings.</p><p><strong>Results: </strong>In all cases inter-twin difference in abdominal circumference was greater than 18 mm and inter-twin weight difference of more than 15%. We observed polyhydramnios/oligohydramnios in all twin pregnancies. It has been found decreased PI in middle cerebral artery in larger fetus (recipient) in all our cases (comparing to single pregnancy). PI values for this vessel in smaller fetuses were within normal range (for single pregnancy). PI values in umbilical arteries of recipients were abnormal (increased PI or absent end-diastolic flow).</p><p><strong>Comments: </strong>The sonographic criteria seem to be very useful in diagnosis of twin-to-twin transfusion syndrome, especially in cases where the measurement of hemoglobin level is impossible. Doppler blood flow velocimetry in fetal vessels helps to explain the changes in fetal hemodynamics in TTTS.</p>","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"47 3-4","pages":"227-37"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000155","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21756314","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}

{"title":"[A brief history of twin study methods 2--actual formulation of methods].","authors":"F Lorenzi","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"47 1","pages":"57-71"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21204578","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}

{"title":"Yolk sacs in twin pregnancy.","authors":"W Malinowski","doi":"10.1017/s0001566000000076","DOIUrl":"https://doi.org/10.1017/s0001566000000076","url":null,"abstract":"<p><strong>Objective: </strong>The purpose of this study was to evaluate the relationship between the yolk sacs separated or not separated by septum and chorionicity twin pregnancies scanned early in the first trimester, and the relation between size and morphologic features of the yolk sac and the outcome of twin pregnancies.</p><p><strong>Results: </strong>In all 38 sets of twins two yolk sacs were identified. During the first trimester of a dichorionic twin pregnancy, the yolk sacs were always separated by a septum and not separated (\"Eight\" sign) in monochorionic twin pregnancy. In five cases, one of yolk sac was abnormally large (> 8 mm) and had thin wall. Four of the five mothers spontaneously aborted during the next 2-3 weeks. In one case of monochorionic twin ectopic pregnancy two yolk sacs were seen normally.</p><p><strong>Conclusion: </strong>The sonographic identification of yolk sacs in multiple pregnancies allows an early and efficient recognition of presence and chorionicity of twin pregnancy, both in intra- and extrauterine. Identification of abnormal yolk sac or yolk sacs suggests death of one or all embryos.</p>","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"47 3-4","pages":"177-81"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000076","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21757186","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}

{"title":"Tre Coppie di Gemelle in Tre Generazioni Successive Nate da Madri Gemelle","authors":"G. Andreano, M. Dobosz, I. Boschi, L. Ruscitti, A. Liberti, D. Casa","doi":"10.1017/S0001566000000362","DOIUrl":"https://doi.org/10.1017/S0001566000000362","url":null,"abstract":"It is generally held that there are genetic factors for dizygotic (DZ) twinning, but the pattern of inheritance is far from clear. We report on a rare pedigree with three sets of spontaneous DZ female twin births in three successive generations. To our knowledge no similar pedigrees have been reported in literature. Zygosity determination in three pairs of twins was performed with ABO, MN and Rh blood groups from erythrocytes and with STR analysys from samples of saliva. In our pedigree, the direct trasmission of the DZ twinning through the maternal line seems show an autosomal dominant pattern of inheritance. We believe that the inheritance of DZ twinning appears to be recessive in most case and autosomal dominant only in rare instances. It is plausible with the hypothesis that the expression of the dizygotic twinning trait in a mother shows a genetic heterogeneity.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"17 1","pages":"43-49"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88449250","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}

{"title":"Characteristics of adaptation period for extrauterine life of neonates from multiple pregnancies.","authors":"M Mikulska,&nbsp;B Wolnicka","doi":"10.1017/s0001566000000143","DOIUrl":"https://doi.org/10.1017/s0001566000000143","url":null,"abstract":"","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"47 3-4","pages":"219-26"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000143","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21756313","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}

{"title":"Prevalence and forms of congenital anomalies in twins born in Pomeranian District during the period from 1.07.1997 to 31.12.1998. Polish Register of Congenital Anomalies.","authors":"T Zimoń,&nbsp;M Walczak,&nbsp;J Fydryk,&nbsp;A Materna-Kiryluk,&nbsp;J Mejnartowicz,&nbsp;A Latos-Bieleńska,&nbsp;E Ronin-Walknowska,&nbsp;R Czajka,&nbsp;M Chosia,&nbsp;E Gawrych,&nbsp;E Baryła-Pankiewicz,&nbsp;S Zajaczek,&nbsp;J Rudnicki,&nbsp;A Hulak,&nbsp;H Chrystyniak,&nbsp;A Romanowski,&nbsp;I Staroniewska","doi":"10.1017/s0001566000000180","DOIUrl":"https://doi.org/10.1017/s0001566000000180","url":null,"abstract":"<p><p>The authors have analysed the frequency and structure of congenital anomalies in children born in the Pomeranian district in the period from 01.07.1997 to 31.12.1998. Among a total of 28.361 births in that area, 748 (2.64%) were affected by congenital anomalies. Among 28.361 births, 620 (2.18%) were from multiple pregnancies. 23 (3.71%) among births from multiple pregnancies were affected by congenital malformations. The prevalence rate of inborn anomalies in births from multiple pregnancy in our area were higher (3.71%) in comparison to births from singleton pregnancy (2.61%). It implies that children born from multiple pregnancy are at higher risk of developing congenital anomalies.</p>","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"47 3-4","pages":"255-9"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000180","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21756317","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}

{"title":"Sex differences in genetic determinants of craniofacial variations--a study based on twin kinships.","authors":"K Sharma","doi":"10.1017/s0001566000000350","DOIUrl":"https://doi.org/10.1017/s0001566000000350","url":null,"abstract":"<p><p>Race, sex, nutritional status and cultural factors affect craniofacial morphogenesis. Out of these, sex is a major factor in craniofacial differentiation, because it can be stronger in one ethnic group and weaker in another. In this study, sex differences in genetic variance and heritability of 13 craniofacial traits are investigated. The study is based on a sample of 45 MZ and 101 DZ twin pairs and their 125 singleton siblings, 104 fathers and 103 mothers in 146 families drawn from an urban population of Chandigarh. Results of t-tests for equality of the means reveal association of zygosity with the mean value of bigonial diameter in female twins and for none in males. Heterogeneity of variance is observed in about 50% traits in females as compared to 15% in males. This invalidates conventional within-pair genetic variance estimates for these traits. The revised genetic variance ratios are higher on an average in males than in females. However, there is greater MZ environmental covariance in male twins than their female counterparts. Family data indicate higher maternal effect for ear height, nasal height and frontal breadth, while greater paternal effect is seen in cranial traits. Sex-wise midparent-child regression coefficients show greater heritability in daughters for nasal traits and bigonial breadth, while sons show higher genetic component for head size measures.</p>","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"47 1","pages":"31-41"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000350","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21203952","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}

{"title":"The position of the monozygotic twins among their school class-mates in the light of results of Janusz Korczak's \"Plebiscite on likes and dislikes\".","authors":"K S Sawicki,&nbsp;E Rogucka","doi":"10.1017/s0001566000000039","DOIUrl":"https://doi.org/10.1017/s0001566000000039","url":null,"abstract":"<p><p>Within the \"Wrocław Longitudinal Twin Study\" in a part of the material the liking level of singletons (SIN) to identical twins (TMZ) and of TMZ to SIN was analysed cross-sectionally, in the period of 11th to 18th year of life. In each of the 76 classes of elementary and high schools in Wrocław (Poland), including the investigated in 1976-7 TMZ (64 pairs), were evaluated the relations between school-mates, using the Korczak's five-degree scale of liking. The declared by TMZ and SIN liking decreased with age between pupils of the same sex, and increased between pupils of opposite sex, however, in TMZ with some delay. The liking declared by TMZ of both sexes to SIN was on average lower than that declared by SIN to TMZ. The degree of liking declared by SIN to TMZ of the same sex was average higher than in relation of SIN to SIN particularly among girls. Thus, there occurred the so-called \"prima donna effect\". The liking declared to pupils of opposite sex in relation of SIN to TMZ was on average lower than the analogous one in relation of SIN to SIN and in relation TMZ to SIN even worse. The higher contrast in treating pupils of the same and opposite sex in TMZ than in SIN indicates a lower social maturity in TMZ. A diverse influence of socio-economic conditions on the declared toward then liking by boys and girls was found. The low number of separated twins did not allow to make a generalisation on specificity of their position in class. The sending of TMZ to different classes appeared to be in Wrocław elementary schools sporadic (1 repeater), and in high schools observed in 38%, from that 28% of twins went to equivalent classes, usually in different school, and in 10% of pairs one of the twins repeated the class.</p>","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"47 3-4","pages":"133-51"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000039","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21756447","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}

{"title":"A case of successful twin pregnancy placed in separate horns of bicornuate, unicollis uterus.","authors":"A W Kuczynski,&nbsp;W Szcześniak,&nbsp;A Szczygielski","doi":"10.1017/s0001566000000118","DOIUrl":"https://doi.org/10.1017/s0001566000000118","url":null,"abstract":"<p><p>We described a case of pregnancy, delivery and peurperium of 28 years old multipara with twins pregnancy in bicornuate, unicollis uterus. Each fetus was placed in separate horn of uterus. Biological mature pregnancy was delivered by cesarean section. During the peurperium the involution disturbances of one of the uterus horns were observed. The case was discussed in context of other similar anomalies.</p>","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"47 3-4","pages":"201-4"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000118","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21757190","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}