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1.
Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases 总被引:3,自引:0,他引:3
Queipo G Zenteno JC Peña R Nieto K Radillo A Dorantes LM Eraña L Lieberman E Söderlund D Jiménez AL Ramón G Kofman-Alfaro S 《Human genetics》2002,111(3):278-283
True hermaphroditism (TH) is an unusual form of sex reversal, characterized by the development of testicular and ovarian tissue in the same subject. Approximately 60% of the patients have a 46,XX karyotype, 33% are mosaics with a second cell line containing a Y chromosome, while the remaining 7% are 46,XY. Molecular analyses have demonstrated that SRY is present in only 10% of TH with a 46,XX karyotype; therefore, in the remaining 90%, mutations at unknown X-linked or autosomal sex determining loci have been proposed as factors responsible for testicular development. True hermaphroditism presents considerable genetic heterogeneity with several molecular anomalies leading to the dual gonadal development as SRY point mutations or SRY hidden gonadal mosaicism. In order to identify genetic defects associated with subjects with the disease, we performed molecular analyses of the SRY gene in DNA from blood leukocytes and gonadal tissue in 12 true hermaphrodites with different karyotypes. Our results using PCR and FISH analyses reveal the presence of hidden mosaicism for SRY or other Y sequences in some patients with XX true hermaphroditism and confirms that mosaicism for SRY limited to the gonads is an alternative mechanism for testicular development in 46,XX true hermaphrodites. 相似文献
2.
S Manouvrier G A Loeuille G Fontaine J P Farriaux 《Journal de génétique humaine》1987,35(2-3):131-144
The authors report the cases of two new families of true hermaphroditism (4 cases) defined by the coexistence of both testicular and ovarian tissues. Exceptionally the disease presents a familial recurrence: only 8 families have been reported in the literature. When the study is done HY antigen is always increased in patients with true hermaphroditism and sometimes slightly increased in their mothers who are phenotypically normal. 相似文献
3.
Gary D. Berkovitz Patricia Y. Fechner Sandra M. Marcantonio Gail Bland Gail Stetten Peter N. Goodfellow Kirby D. Smith Claude J. Migeon 《Human genetics》1992,88(4):411-416
Summary The syndrome of 46,XX true hermaphroditism is a clinical condition in which both ovarian and testicular tissue are found in one individual. Both Mullerian and Wolffian structures are usually present, and external genitalia are often ambiguous. Two alternative mechanisms have been proposed to explain the development of testicular tissue in these subjects: (1) translocation of chromosomal material encoding the testicular determination factor (TDF) from the Y to the X chromosome or to an autosome, or (2) an autosomal dominant mutation that permits testicular determination in the absence of TDF. We have investigated five subjects with 46,XX true hermaphroditism. Four individuals had a normal 46,XX karyotype; one subject (307) had an apparent terminal deletion of the short arm of one X chromosome. Genomic DNA was isolated from these individuals and subjected to Southern blot analysis. Only subject 307 had Y chromosomal sequences that included the pseudoautosomal boundary, SRY (sex-determining region of Y), ZFY (Y gene encoding a zinc finger protein), and DXYS5 (an anonymous locus on the distal short arm of Y) but lacked sequences for DYZ5 (proximal short arm of Y) and for the long arm probes DYZ1 and DYZ2. The genomic DNA of the other four subjects lacked detectable Y chromosomal sequences when assayed either by Southern blotting or after polymerase chain reaction amplification. Our data demonstrate that 46,XX true hermaphroditism is a genetically heterogeneous condition, some subjects having TDF sequences but most not. The 46,XX subjects without SRY may have a mutation of an autosomal gene that permits testicular determination in the absence of TDF. 相似文献
4.
B Kaluzewski T Pawlikowski T Moruzgala Z Reterski O Bjanid 《Journal de génétique humaine》1977,25(3):195-203
The case of a 24-year-old man with hypoplastic external genitalia, lack of the right scrotal testis and gynaecomastia has been described. In the intermitotic cells the cytogenetic investigations revealed the presence of the X body and the absence of the Y body. A 45,X/46,XX/46,X,mar/47,XX,mar karyotype could be established. On laparotomy a rudimentary ovary, uterus and vagina were detected on the right side of the abdominal cavity. 相似文献
5.
Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite. 总被引:4,自引:0,他引:4
J C Giltay T Brunt F A Beemer J M Wit H K van Amstel P L Pearson C Wijmenga 《American journal of human genetics》1998,62(4):937-940
True hermaphroditism in humans usually is associated with a 46,XX karyotype or with mosaicism in which admixtures of cells with an XX and an XY karyotype are seen. However, the mechanisms that cause such mosaicisms are poorly understood. To date, with rare exceptions, analyses of hermaphrodites have been limited mostly to cytogenetic investigations. In this report, we describe a 5-year-old patient with true hermaphroditism and a 46,XX/46,XY karyotype (ratio 38:12) in lymphocytes, suggesting involvement of two fertilization events. Microsatellite DNA polymorphisms distributed throughout the genome were analyzed, to investigate the origin of the cell lines concerned. The results are consistent with double paternal and single maternal genetic contributions. Possible mechanisms that would explain these findings are discussed. The most likely mechanism involves a single haploid ovum dividing parthenogenetically into two haploid ova, followed by double fertilization and fusion of the two zygotes into a single individual, at the early embryonic stage. 相似文献
6.
Durval Damiani Ana Elisa C. Billerbeck Anna Carla K. Goldberg Nuvarte Setian Marc Fellous Jorge Kalil 《Human genetics》1990,85(1):85-88
Summary Four patients with 46,XX true hermaphroditism and one patient with 46,XY pure gonadal dysgenesis (Swyer syndrome) were analyzed with a Y chromosome-derived probe that detects a specific fragment on the short arm of the Y chromosome in the putative testicle-determining region and also a fragment on the short arm of the X chromosome. Normal males and females, an individual with Turner syndrome, and patients with various causes of anomalous gonadal differentiation accompanied by cytogenetically present Y chromosome were used as controls. The Y-specific fragment was not detected in any of the persons with 46,XX true hermaphroditism. However, this fragment was positive in the 46,XY female and in all Y-bearing patients. Cytogenetic and molecular absence of the ZFY sequence in 46,XX true hermaphrodites calls for explanations other than the classic embryogenie theory. The absence of testicular differentiation in the ZFY-positive XY female evidences functionally altered sex determination or, alternatively, defective gonadal receptors. 相似文献
7.
Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis 总被引:1,自引:5,他引:1
F. Waibel G. Scherer M. Fraccaro T. W. J. Hustinx J. Weissenbach J. Wieland Antonia Mayerová Elke Back U. Wolf 《Human genetics》1987,76(4):332-336
Summary A search for Y-specific DNA sequences has been performed in a sample of seven 46,XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case and compared with a sample of 11 XX males. Using six Y-specific DNA probes no hybridization signal was obtained in the hermaphrodite group; in contrast, all XX males gave a positive signal with at least one probe. This difference is statistically highly significant. We conclude that the aetiology of true hermaphroditism is different from that of the XX male syndrome. As all cases of the hermaphrodite group are positive for the serological sex-specific antigen (Sxs) it is concluded that this antigen can be present even in the absence of Y-specific DNA. 相似文献
8.
A severely mentally retarded and physically handicapped girl is described who has 46,XX/46,XX,r(2)(p25q37) mosaicism. This is the first ring 2 chromosome to be described in Man. Studies of the behaviour of the ring showed that it was stable in diploid cells which had increased in frequency over a period of seven years, but unstable in tetraploid cells which were at a much higher frequency than in normal individuals. It is concluded that in some cases the phenotypic consequences of ring chromosome formation may be due more to their disturbing the regulation of cell division than to the loss of genetic material. Current models of ring chromosome behaviour do not account for the induction of tetraploidy. 相似文献
9.
Rare case of mosaicism for chromosome 18, karyotype: 46, XX, del(18) (p11)/46, XX, i(18q) 总被引:1,自引:0,他引:1
Rare mosaicism of chromosome No 18 is described. The proposita is 5.5 years old and has two cell clones: 50% of cells are monosomic for 18p and 50% have isochromosome i18q. The ratio of these clones (1:1) is found to be similar at the age of the proposita 2.5 and 5.5 years. The proposita has some phenotypic characters of both 18p- (ptosis, epicanthus, deformed carious teeth, falled back sternum etc.) and trisomy 18q (contraction of external auditory meatus, femur luxatus congenitus etc.) syndromes. A possible mechanism for the origin of such a mosaicism is discussed. 相似文献
10.
11.
A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY 总被引:4,自引:0,他引:4
Ken McElreavey Raphaël Rappaport Eric Vilain Nacer Abbas François Richaud Stéphen Lortat-Jacob Roland Berger Maryvonne LeConiat Chafika Boucekkine Kiran Kucheria Samia Temtamy Claire Nihoul-Fekete Raja Brauner Marc Fellous 《Human genetics》1992,90(1-2):121-125
Summary A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases. 相似文献
12.
The mosaicism 46,XX/46,XX,del(10)(p13)/47,XX, +r/47,XX,del(10)(p13), +r was found in the lymphocytes and the fibroblasts of a patient with the following : profound mental retardation; craniofacial dysmorphism with frontal bossing, fine eyebrows, a large hypoplastic nasal bridge, prognathism of the upper jaw, thick lips; a long and thin neck; congenital heart disease; skeletal malformations, with club feet; and hypotonia and lax ligaments. These malformations, compatible with the trisomy 10p syndrome, suggest that the supernumerary ring chromosome was composed of 10p material. An increase of HK1 and GOT1 activities was found. This is in favour of a partial trisomy of chromosome 10. The relative frequencies of the clones constituting the mosaic vary from tissue to tissue and with time. 相似文献
13.
The problem of the presence of imprinted regions on the X-chromosome and the possible influence of the imprinted expression of X-linked genes on the embryonic development in man remains largely unsolved. A comparison of the uniparental inheritance of chromosomes or of their regions having different phenotypic manifestations provides an instrument with which to study the phenomenon of genomic imprinting at the chromosomal level. Assuming that the imprinted inactivation of X-chromosomes is functionally significant for embryonic development, we have studied several polymorphic micro- and minisatellite loci of X-chromosomes in 52 fetuses with karyotype 46,XX, which were spontaneously aborted during the first trimester of pregnancy. The purpose was to determine the contribution of uniparental disomy for the X-chromosome in any disturbances of the embryonic development. We found that inheritance of X-chromosomes was biparental in the studied embryos, suggesting the absence of any significant contribution of the parental origin of the X-chromosome to embryonic mortality occurring between 4 and 12 weeks of development. 相似文献
14.
C. Boucekkine D. Nafa M. Casanova-Bettane F. Latron M. Fellous M. Benmiloud 《Human genetics》1985,69(1):91-93
Summary The pattern of inheritance of several X polymorphic markers is studied in the pedigree of a 46,XX true hermaphrodite. The results of the Xga, 12E7, and G6PD segregation analysis favour the hypothesis of a preferential inactivation of the paternally derived X chromosome. 相似文献
15.
Inheritance of ring chromosomes is reported infrequently. The authors report on a phenotypically and mentally normal mother with ring chromosome 18 mosaic with a normal cell line and her polymalformed son with non-mosaic 46,XY,r(18) karyotype. 相似文献
16.
Summary A 46,XX,inv(12)pat/47,XX,i(Xq),inv(12)pat was diagnosed prenatally in a 36-year-old woman whose husband was a known carrier of a pericentric inversion of chromosome 12. The diagnosis was confirmed in fetal tissue. Terminal bromodeoxyuridine (BrdU) labelling demonstrated that in the line with 46 chromosomes one X was late replicating, while one X and the i(Xq) were late replicating in 100% of the cells with 47 chromosomes. We present the first case of this type of sex chromosome mosaicism. Genetic counseling presented difficulties since it was not possible to predict the fetal phenotype. 相似文献
17.
A macro-microscopical and histological investigation of the urogenital system organs of a rabbit-hermophrodite has been performed with an aim to compare the content of sex steroids in the peripheral and in the gonadal blood estimated by means of radioimmunological methods. Certain anomalies have been found out in the development of external and internal sex organs, kidneys and urinary bladder. Testosterone and estradiol concentration in blood flowing from the ovotestis is decreased, as it is in the periphral blood. The rabbit urogenital system organs have been studied from the 12th day of the intrauterine development up to the 10th day of the postnatal life. The results of the investigation performed make it possible to consider that the developmental anomalies in the rabbit-hermophrodite have, evidently, appeared between the 20th--25th days of its intrauterine development as a result of certain disbalance of sex steroids. 相似文献
18.
S. Robert Young Denis M. Donovan Harry A. Greer Kay Burch David C. Potter 《Human genetics》1976,33(3):331-334
Summary A 3-year-old child with tertiary trisomy 14 (+14q-), daughter of a mother with a balanced reciprocal translocation [46,XX,t(14;16) (q11;q24)] is presented. Craniostenosis and developmental retardation were the primary presenting features in this patient.Operated by the University of Chicago for the U.S. Energy Research and Development Administration.This study was supported by the South Carolina Department of Mental Health. 相似文献
19.
Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females. 总被引:6,自引:3,他引:6
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U Müller T Donlon M Schmid N Fitch C L Richer M Lalande S A Latt 《Nucleic acids research》1986,14(16):6489-6505
Eleven Y-specific DNA probes hybridizing with DNA from one or more 46,XX males were isolated from a recombinant phage DNA library constructed from flow sorted human Y chromosomes. Two probes hybridized with DNA from nine out of eleven, i.e. greater than 80% of these 46,XX males. The relative frequency of hybridization of the probes in the 46,XX males and in a 46,X,dic(Y) female, together with in situ hybridization data, allowed mapping of the probes on Yp in relation to a putative testis determining locus. Several of those probes were also absent in a 46,XY female, further refining a model for ordering the probes on Yp. The DNA of one XX male hybridized both with probes from Yp and probes from proximal Yq (excluding the pericentral region). This suggests that complex translocations may occur into the DNA of 46,XX males that involve not only parts of Yp but also parts of Yq. 相似文献
20.
Silvia Maria Sirchia Chiara De Andreis Sara Pariani Maria Grazia Grimoldi Anna Molinari Mauro Buscaglia Giuseppe Simoni 《Human genetics》1994,94(4):355-358
We investigated the parental origin of the extra chromosome 14 and of the two chromosomes 14 of the euploid cell line, in a case of fetal mosaicism 46,XX/47,XX+14 diagnosed at amniocentesis. Molecular analysis of five polymorphic loci of the short tandem repeat type was performed. Markers D14S43 and D14S49 showed the presence of maternal uniparental disomy of chromosome 14 in the apparently normal cell line. The distribution of the markers analysed along the chromosome suggests maternal heterodisomy with a large isodisomic segment in the telomeric region, possibly caused by meiotic crossing-over. 相似文献