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A T Midro S Stengel-Rutkowski M Krajewska-Walasek J Szymańska M Lassota R Lesniewicz B Jaworowska 《Annales de génétique》1992,35(1):33-40
The risk of offspring with unbalanced karyotypes born to carriers of reciprocal chromosomal translocation (RCT) is important to evaluate for further family planning and prenatal diagnosis. The authors describe two families with carriers of similar RCT concerning breakpoint positions and discuss the different individual risks for abnormal progeny. These translocations were studied by GTG, RBG and CBG banding. They have the same breakpoint on 9p, i.e. 9p22, and a different one on 12p, i.e. terminal (pter----p13) and intermediate (p11.2), respectively. The risk value of 27% for family 1 was obtained directly from the large enough pedigree (high risk) a risk value of about 5% was estimated for family 2, according to the guidelines of Stene and Stengel-Rutkowski (1988). The data show that similar translocations with only slight differences in the breakpoints position have different risks for unbalanced progeny. Results of these empiric findings may be used directly in genetic counselling of a family with RCT leading to a single imbalance of the same segment. 相似文献
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本文报道海拔3417m和4280m地区世居藏族和移居汉族青少年运动状态下心肺功能的对比研究。结果显示:3417m和4280m世居藏族的最大氧耗量、无氧阈值及最大心输出量都明显大于汉族,血氧饱和度(Sao2)随运动负荷的增加而降低。海拔3417m藏、汉族的△Sao2分别为7.46%和10.03%,4280m处为8.57%和13.75%,最大心率随海拔升高而下降。研究提示,藏族青少年有较高的最大有氧能力,反映了他们对低氧环境的适应优势。 相似文献
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DON AT AGOSTI 《Systematic Entomology》1994,19(2):93-117
Abstract. The holarctic ant tribe Formicini is revised, the new genus Bajcaridris described, and possible phylogenetic relationships are discussed. The subgenus Iberoformica is synonymized with Formica. A synopsis, diagnosis and keys to the genera are provided. 相似文献
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Ferens-Sieczkowska M Midro A Mierzejewska-Iwanowska B Zwierz K Katnik-Prastowska I 《Glycoconjugate journal》1999,16(10):573-577
Alterations in haptoglobin (Hp) glycosylation were examined in the plasma of the first patient with carbohydrate-deficient glycoprotein syndrome (CDGS) who was described in Poland. Hp concentration in the CDGS patient plasma was low (240mg/l) and the Hp phenotype was shown to be 2-2. Three glycoforms of the Hp subunit were observed in SDS-PAGE in CDGS. The densitometric analysis and molecular weight determinations suggested that 50% of glycoforms were fully glycosylated; 30% contained three out of four and 20% only two out of four glycan units compared to those that are present in Hp derived from healthy people. Results with lectins (concanavalin A and Sambucus nigra, Maackia amurensis and Alleuria aurantia agglutinins) indicate that all three glycoforms of subunit of CDGS-Hp contained biantennary complex glycans terminated with 2,6 bound sialic acid, but without fucose or 2,3 linked sialic acid. Hp glycosylation abnormalities described in this work suggest that this case was a type I carbohydrate-deficient glycoprotein syndrome. 相似文献
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Marcella Zollino Rosetta Lecce Marina Murdolo Daniela Orteschi Giuseppe Marangi Angelo Selicorni Alina Midro Giovanni Sorge Giuseppe Zampino Luigi Memo Domenica Battaglia Michael Petersen Effie Pandelia Yolanda Gyftodimou Francesca Faravelli Romano Tenconi Livia Garavelli Laura Mazzanti Rita Fischetto Pietro Cavalli Salvatore Savasta Laura Rodriguez Giovanni Neri 《Human genetics》2008,123(3):319-319
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Iwanowski PS Stengel-Rutkowski S Anderlik L Pilch J Midro AT 《Genetic counseling (Geneva, Switzerland)》2005,16(1):31-40
Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition with characteristic facial traits, organ malformations, functional impairment and developmental delay due to partial short arm monosomy of chromosome 4. Although several hundreds of cases have been published to date, a systematic collection of its clinical symptoms and anthropological traits is missing in the literature, and reports on abilities and needs of children with WHS are scanty. Results of detailed physical and developmental phenotype analyses in a 1 10/12-year-old boy with monosomy 4p15.2-pter are presented. Physical analyses were based on systematic data acquisition. They disclosed a total of 32 clinical symptoms and 46 anthropological traits. Developmental analyses were based on the child's interactive play in an environment structured according to Montessori principles. They disclosed a total of 44 abilities and a number of needs to be satisfied by the environment for the support of the child's psychic and intellectual growth. While the physical phenotype is important for the diagnostic process, the developmental phenotype is essential for parental counseling. 相似文献
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Hubert E Sawicka A Wasilewska E Midro AT 《Genetic counseling (Geneva, Switzerland)》2006,17(2):211-218
The phenotype of a girl at age of 12 years with a partial trisomy 4q caused by unique direct duplication 4q27 --> q31.3 included the thick, broad and straight eyebrows, upward slanting palpebral fissures, a deep-set eyes, narrow bridge and long back of the nose, flattened philtrum columns, narrow of vermilion borders of both upper and lower lips, protrusion of maxillary alveolar processus and anterior teeth together with shortened and posteriorly situated mandible, malocclusion corresponding with II class of Angle and long fingers, narrowing towards distal phalanges has been described. Further investigations are needed to delineate the clinical spectrum of features essential for partial trisomy 4q. 相似文献
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