共查询到20条相似文献,搜索用时 375 毫秒
1.
Summary We describe a male with the karyotype 46,XX/47, XX,+Y(q12qter), which may be interpreted as due to an insertion (Y;X)(Yq11Yq12;Xp22) or to mosaicism, 46,XX/47, XX,+Y(12qter). In any case, some of the H-Y determining genes may be located on the long arm of the Y chromosome. 相似文献
2.
3.
4.
J. D. Murken M. Bauchinger D. Palitzsch H. Pfeifer J. Suschke H. Haendle 《Human genetics》1970,10(3):254-268
Summary A 21/2 years old girl with multiple malformations is reported. The cytogenetic and autoradiographic investigations show a trisomy D2(14). In the following symptoms the clinical signs are different from the syndrome of a trisomy D1(13): There are no malformations of the eyes, no inborn deafness, no malformations of the heart and kidneys, no hypoplasia of the thumb. The child does not show any signs of capillary haemangioma and no aplasia of the root of the bony nose. The malformation of the bony pelvis, like a splitted pelvis with very narrow high iliococcygeals is remarkable. The child shows all the mainsymptoms of the other autosomal trisomies: oligophrenia, craniofacial dysmorphia, hypotonia of the muscle tonus and dysplasia of the ears.
Mit Unterstützung durch die Deutsche Forschungsgemeinschaft, AZ Mu 258/3. 相似文献
Trisomie D2 bei einem 21/2 jährigen Mädchen (47,XX,14+)
Zusammenfassung Es wird über ein 21/2jähriges Mädchen mit multiplen Fehlbildungen berichtet, bei dem die autoradiographische Chromosomenanalyse eine Trisomie D2 ergab. Die klinische Symptomatik des Kindes unterscheidet sich von der einer D1-Trisomie in folgenden Symptomen: Es fehlen die Mißbildungen der Augen, die angeborene Taubheit. Mißbildung des Herzens und der Nieren lassen sich klinisch und röntgenologisch nicht nachweisen. Es besteht keine Polydaktylie, keine Daumenhypoplasie, das Kind weist keine capillären Hämangiome auf und es besteht keine Aplasie der Nasenwurzel. Auffällig sind bei der Patientin die Fehlbildung des knöchernen Beckens im Sinne eines Spaltbeckens mit sehr schmalen, hohen Beckenschaufeln.
Mit Unterstützung durch die Deutsche Forschungsgemeinschaft, AZ Mu 258/3. 相似文献
5.
Zusammenfassung Bei einem Patienten mit multiplen Mißbildungen wurde eine Duplikation für die distale Hälfte vom kurzen Arm des Chromosoms 2 und eine Defizienz an einem C-Chromosom gefunden. In der Literatur sind vier Fälle mit ähnlicher Duplikation, jedoch jeweils einer klein n Defizienz am Chromosom 3 beschrieben worden. Ein Vergleich der klinischen Merkmale bei den fünf Patienten zeigt weitgehende Übereinstimmungen. Es wird gefolgert, daß die gleichartige Duplikation für das einheitliche klinische Bild der Patienten verantwortlich ist. Es wurden Chromosomenmessungen, Analysen der Replikationsmuster und Meioseuntersuchungen durchgeführt. Die Genloci für das Ss- und das Rh-System konnten von einer Lokalisierung auf dem duplizierten Segment ausgeschlossen werden.
Mit Unterstützung durch die Deutsche Forschungsgemeinschaft. 相似文献
2/C translocation in father and daughter: 46,XY t (2p-;Cp+) and 46,XX Cp+
Summary In a patient with multiple anomalies, a duplication comprising the distal half of the short arm of chromosome 2 and a small deficiency of a C-chromosome was found. Four other cases from the literature exhibit a similar duplication combined with a small deficiency each of chromosome 3. Comparison of the clinical pictures of the five patients revealed a conformity in the major features. It is concluded that the duplication is responsible for the uniform appearance of these patients. The studies performed include chromosome measurements, examination of replication patterns and meiosis. The gene loci for the Ss and Rh systems could be excluded from localization on the duplicated segment.
Mit Unterstützung durch die Deutsche Forschungsgemeinschaft. 相似文献
6.
Zusammenfassung Bei einem normal intelligenten, kleinwüchsigen, 219/12 jährigen Mann mit Hypospadie, fraglicher rudimentärer Vagina und hypergonadotropem Hypogonadismus findet man bei der Biopsie des nur 7 ml großen linken Hodens eine gleichförmige tubuläre Atrophie mit Fehlen des Keimepithels und eine diffuse, kleinherdige Leydigzellwucherung. Sex-Chromatin in den Leydigzellen, im Mundabstrich und Drumsticks negativ. Karyotyp in den Lymphocyten und im Knochenmark normal weiblich (46,XX), in den Fibroblasten jedoch 45,XO.Somit weist dieser Patient Testesgewebe auf, das Y-Chromosom ist aber unauffindbar. Zur Klärung dieser Diskrepanz scheint das Vorhandensein einer dritten, zahlenmäßig stark in den Hintergrund tretenden, ein Y enthaltenden Zellpopulation die naheliegendste Hypothese zu sein.Eine Zwillingsschwester kam im Neugeborenenalter ad exitum; die Blutgruppenuntersuchungen beim Patienten und seiner Familie machen aber einen Blutchimärismus sehr unwahrscheinlich.Das klinische Bild unseres Patienten ist vollkommen verschieden von demjenigen, das beim XX/XO-Mosaik üblicherweise beobachtet wird und läßt sich auch vom klassischen Klinefelter-Syndrom deutlich abgrenzen. Es zeigt Ähnlichkeiten mit einigen Fällen von XO/XY-Mosaik.
Direktor: Prof. Chr. Hedinger 相似文献
Summary In a normally intelligent man of 219/12 years the following main physical findings were present: short stature, hypospadias, possibly a rudimentary vagina, hypergonadotropic hypogonadism, small testis (7 ml) with tubular dystrophy consisting in absence of germinal epithelium and localized proliferation of Leydig's cells. Sex chromatin in buccal mucosa cells was negative; no drumsticks were found in neutrophils. The karyotype in lymphocyte cultures and bone-marrow preparations was 46,XX; in several independent fibroblast cultures 45,XO.The most likely explanation for the presence of testicular tissue seems to be the existence of an undiscovered cell population containing a Y-chromosome.A twin sister of the patient died in early infancy; blood group investigations gave no indications for the presence of blood chimerism.The clinical picture of this patient is entirely different from that of the usual XX/XO mosaics, it also clearly differs from Klinefelter's syndrome but shows some similarities to cases of XO/XY mosaicism.
Direktor: Prof. Chr. Hedinger 相似文献
7.
自1957年弗格森-史密斯(Ferguson-Smith)对男性不育进行研究,已发现某些染色体异常可导致不育症,其中XX或X男性是男性不育原因之一。本文收集的68例X及XX男性,其中46,XX男性37例,约占54%,45,X男性8例,占11%,两性畸形17例,约占25%,1例46,XX/47,XXX男性嵌合体,5例Y染色体不同程度的缺失和1例Y染色体长臂与15号染色体短臂易位表现为女性。其中丹麦哥本哈根实验室从1973-1980年对5.580例孕妇进行羊膜穿 相似文献
9.
本文报道了用绒毛细胞直接制备染色体的方法,诊断出一个家系中3例染色体异常胎儿。一例核型为:46,XX,rec(4),dup p,inv(4)(P12 q35)pat;另外两例核型为:46,XY,inv(4)(p12 q35)Pat。对此家系2代中8人进行了染色体检查。其中3人核型为46,XY,inv(4)(P12q35)。3例胎儿的异常染色体是来自他们的父亲(4号染色体臂间倒位携带者)。并讨论了臂间倒位染色体携带者对后代的影响。 相似文献
10.
Abstract:This report describes a cytogenetic aberration in one neonatal patient with hypoxic-ischemic encephalopathy.A rare karyotype,46,XX,-21,+t(21;21), was detected.This de nono chromosomal abnormality may be caused by the meiotic non-disjunction of chromosomes during gametogenesis along with the formation of Robertsonian translocation between homologous chromosome 21. 相似文献
11.
12.
本文报告一例45,X/46,XXr嵌合体。患者徐××,表型女性,25岁,未婚。继发闭经,因阴蒂肥大而要求入院手术,维持女性。术中发现子宫为幼儿型,小而薄。右侧卵巢和输卵管缺如。左侧圆韧带薄而松弛。左侧输卵管长度正常但很细,卵巢小而薄。 相似文献
13.
Lee MH Won Park S Yoon TK Shim SH 《Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology》2012,28(7):573-576
Background: Defects in cytochrome P450c17 are uncommon forms of congenital adrenal hyperplasia caused by CYP17A1 mutations. An H373L mutation in the CYP17A1 gene has been identified in Japanese and Chinese patients. This mutation impairs 17α-hydroxylase and 17,20-lyase activity. Case: A 23-year-old Korean female (46,XX) presented with absent spontaneous puberty and hypertension. Hormonal findings were consistent with combined 17α-hydroxylase/17,20-lyase deficiency. Very high levels of progesterone and 11-deoxycorticosterone were detected, coincident with normal 17-hydroxysteroid levels. Plasma levels of dehydroepiandrosterone, androstenedione and testosterone were extremely low. Mutation analysis of the CYP17A1 gene identified a homozygous missense mutation changing His (CAC) to Leu (CTC) at codon 373. This mutation is known to completely abolish both 17α-hydroxylase and 17,20-lyase activity. The patient's nonconsanguineous parents were heterozygous for this mutation. Of note, her serum steroid levels indicated decreased, but still present, 17α-hydroxylase activity in vivo. Conclusion: We detected a homozygous H373L mutation in a patient with combined 17α-hydroxylase/17,20-lyase deficiency. Our findings demonstrate minimally preserved 17α-hydroxylase activity in vivo and contribute to our knowledge of the regional prevalence of this mutation in Northeast Asia. 相似文献
14.
15.
Saponification of the bis(carbamic acid ester) 1,3-C6H4(CMe2NHCO2Me)2 (1), made by the addition of methanol to commercial 1,3-C6H4(CMe2NCO)2, yielded the meta-phenylene-based bis(tertiary carbinamine) 1,3-C6H4(CMe2NH2)2 (2). Dinuclear [{(η4-1,5-C8H12)RhCl}2{μ-1,3-C6H4(CMe2NH2)2}] (3) resulted from the action of 2 on [{(η4-1,5-C8H12)Rh(μ-Cl)}2] in toluene. Combination of 2 with PdCl2 or K2[PdCl4] gave the dipalladium macrocycle trans,trans-[{μ-1,3-C6H4(CMe2NH2)2}2(PdCl2)2] (4) along with cyclometalated [{2,6-C6H3(CMe2NH2)2-κN,κC1,κN′}PdCl] (5). Substitution of PEt3 for the labile chlorido ligand of 5 afforded [{2,6-C6H3(CMe2NH2)2-κN,κC1, κN′}Pd(PEt3)]Cl (6). The crystal structures of the following compounds were determined: bis(carbamic acid ester) 1, ligand 2 as its bis(trifluoroacetate) salt [1,3-C6H4(CMe2NH3)2](O2CCF3)2, 2 · (HAcf)2, complexes 3 and 6, as well as 1,3-C6H4(CMe2OH)2 (the diol analogue of 2). 相似文献
16.
An Hsp70 family chaperone,mortalin/mthsp70/PBP74/Grp75: what,when, and where? 总被引:11,自引:0,他引:11
下载免费PDF全文
![点击此处可从《Cell stress & chaperones》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Mortalin/mthsp70/PBP74/Grp75 (called mortalin hereafter), a member of the Hsp70 family of chaperones, was shown to have different subcellular localizations in normal and immortal cells. It has been assigned to multiple subcellular sites and implicated in multiple functions ranging from stress response, intracellular trafficking, antigen processing, control of cell proliferation, differentiation, and tumorigenesis. The present article compiles and reviews information on the multiple sites and functions of mortalin in different organisms. The relevance of its differential distributions and functions in normal and immortal cell phenotypes is discussed. 相似文献
17.
为高效诱导功能性XX黄颡鱼(Tachysurus fulvidraco)伪雄鱼,研究以XX遗传型黄颡鱼为实验对象,以12日龄为左炔诺孕酮(Levonorgestrel, LNG)浸泡处理的起始点,设计高(1μg/L)、中(0.1μg/L)和低(0.01μg/L)浓度的LNG处理组,及对照(0)组,于60日龄处理结束。高、中、低浓度LNG处理组和对照组诱导雄性化比例分别为4.0%、25.0%、62.5%和0。观察性腺结构发现, 1和0.1μg/L处理组雄性化的精巢中只有全精巢型,0.01μg/L处理组则包括全精巢型(20.8%)和部分精巢型(41.7%)。幼鱼122日龄精巢组织学观察到大量精子和生精小管互通现象,推测诱导的XX伪雄鱼具有正常繁殖能力。未雄性化的卵巢发育受到LNG抑制, 62日龄卵母细胞数量和122日龄性腺指数分析结果表明,卵巢发育抑制程度与LNG处理浓度呈正相关。与对照组相比, LNG处理对黄颡鱼生长和死亡率都无显著影响。研究表明,在LNG诱导黄颡鱼雄性化研究中,具有雄性化诱导效率较高、使用剂量小和产生的伪雄鱼精巢发育易成熟的优势。研究为优化制备功能性伪雄鱼技术提供了新的... 相似文献
18.
Janet M. Arce Brian A. Naughton Gail A. Kolks Philip Liu Albert S. Gordon Sam J. Piliero 《Prostaglandins & other lipid mediators》1981,21(3):367-377
Prostaglandins A2, E1, E2, methylated E2s and F2α affected erythropoiesis and/or erythropoietin (Ep) production. This action is indicated in the exhypoxic, polycythemic mouse where radioiron incorporations into RBC increased after administration of these compounds. The kidney and liver have been indicated through previous studies, to actively participate in Ep production. By the removal of one of these active sites in a murine system treated with prostaglandins it is shown that a response is reflected in Ep levels. Interference of the action of prostaglandins (PG) is altered by the removal of one of these target sites of Ep production. The erythropoietic responses elicited by PGA2, E1, and perhaps the methylated PGE2s act through the liver whereas PGE2 may operate through a renal pathway for its response. PGF2α reveals no effect on erythropoietic activity and is no different than that observed for vehicle-treated controls. The prostaglandins tested appear to act primarily through the kidney or liver but the possibility exists that some yet undetermined organ site may also be involved. 相似文献
19.
Previously, tau protein kinase I/glycogen synthase kinase-3/kinase FA(TPKI/GSK-3/FA) was identified as a brain microtubule-associated tau kinase possibly involved in the Alzheimer disease-like phosphorylation of tau. In this report, we find that the TPKI/GSK-3/FA can be stimulated to phosphorylate brain tau up to 8.5 mol of phosphates per mol of protein by heparin, a polyanion compound. Tryptic digestion of32P-labeled tau followed by high-performance liquid chromatography and high-voltage electrophoresis/thin-layer chromatography reveals 12 phosphopeptides. Phosphoamino acid analysis together with sequential manual Edman degradation and peptide sequence analysis further reveals that TPKI/GSK-3//FA after heparin potentiation phosphorylates tau on sites of Ser199, Thr231, Ser235, Ser262, Ser396, and Ser400, which are potential sites abnormally phosphorylated in Alzheimer tau and potent sites responsible for reducing microtubule binding possibly involved in neuronal degeneration. The results provide initial evidence that TPKI/GSK-3/FA after heparin potentiation may represent one of the most potent systems possibly involved in the abnormal phosphorylation of PHF-tau and neuronal degeneration in Alzheimer disease brains.Abbreviations FA
the activating factor of type 1 protein phosphatase
- GSK-3
glycogen synthase kinase-3
- TPKI
tau protein kinase I
- SDS-PAGE
sodium dodecylsulfate-polyacrylamide gel electrophoresis
- PHF
paired helical filaments
- HPLC
high-performance liquid chromatography 相似文献
20.
Expression of vnd in ventral, ind in intermediate, and msh in dorsal columns of fly neurectoderm, and of homologous gene families in corresponding domains of vertebrate neurectoderm, suggests that elements of dorsoventral neural patterning have been evolutionarily conserved. However, upstream signaling pathways regulating this columnar gene expression pattern appear to have diverged significantly throughout evolution. In addition, while recent loss-of-function studies in flies and mice indicate that these three genes may have a conserved role in regional specification, there is no obvious conservation of the particular cell fates deriving from corresponding domains. The three-column expression pattern may thus represent a developmental mechanism that is more resistant to evolutionary changes than genetic events upstream or downstream of it. 相似文献