共查询到20条相似文献,搜索用时 31 毫秒
1.
N. Simon Thomas Viv Maloney Victoria Bryant Shuwen Huang Carole Brewer Katherine Lachlan Patricia A. Jacobs 《Human genetics》2009,125(2):181-188
The majority of constitutional reciprocal translocations appear to be unique rearrangements arising from independent events.
However, a small number of translocations are recurrent, most significantly the t(11;22)(q23;q11). Among large series of translocations
there may be multiple independently ascertained cases with the same cytogenetic breakpoints. Some of these could represent
additional recurrent rearrangements, alternatively they could be identical by descent (IBD) or have subtly different breakpoints
when examined under higher resolution. We have used molecular breakpoint mapping and haplotyping to determine the origin of
three pairs of reciprocal constitutional translocations, each with the same cytogenetic breakpoints. FISH mapping showed one
pair to have different breakpoints and thus to be distinct rearrangements. Another pair of translocations were IBD with identical
breakpoint intervals and highly conserved haplotypes on the derived chromosomes. The third pair, t(4;11)(p16.2;p15.4), had
the same breakpoint intervals by aCGH and fosmid mapping but had very different haplotypes, therefore they represent a novel
recurrent translocation. Unlike the t(11;22)(q23;q11), the formation of the t(4;11)(p16.2;p15.4) may have involved segmental
duplications and sequence homology at the breakpoints. Additional examples of recurrent translocations could be identified
if the resources were available to study more translocations using the approaches described here. However, like the t(4;11)(p16.2;p15.4),
such translocations are likely to be rare with the t(11;22) remaining the only common recurrent constitutional reciprocal
translocation. 相似文献
2.
The role of balanced translocations in the human morphogenesis is difficult to interpret. A balanced reciprocal translocation (BRT) was observed in a female child referred with a history of regression of milestones. The cytogenetic findings by GTG-banding and fluorescence in situ hybridization revealed a BRT involving chromosomes 11p and 21q, i.e. 46,XX, t(11;21)(p13;q22). The father was found to be a carrier of the same BRT. This is the first report of reciprocal translocation involving 11p and 21q. The possible reasons for the manifestation of clinical features in the proband due to inherited BRT are discussed. 相似文献
3.
Prontera P Aiello V Toschi M Turci A Gruppioni R Buldrini B Zago S Bonfatti A Donti E Calzolari E Sensi A 《Genetic counseling (Geneva, Switzerland)》2007,18(3):309-315
De novo satellited non-acrocentric chromosomes are very rare findings in prenatal diagnosis. Here we report the first case of a de novo 18ps, associated with del(18p), detected at prenatal diagnosis. A 37 years old woman underwent Chorionic Villus Sampling (CVS) for advanced maternal age. Cytogenetic analysis on direct CVS preparation (CVSc) revealed a male karyotype with a nonfamilial satellited 18ps and a reciprocal translocation t(17;19)(P11.1;q11) of maternal origin. The mesenchimal CVS culture (CVSm) showed a mosaic of cell lines with various involvement of chromosome 18: 18ps [36/70]/ r(18) [25/70]/ del(18p) [3/70]/ -18 [6/70]. Amniotic fluid cells (AFC) confirmed the homogeneous karyotype found at CVSc. The molecular cytogenetic characterization, performed on AFC, allowed the following diagnosis: 46,XY, +15, dic(15;18)(p11.1;p11.2), t(17;19)(p11.1;q11)mat. ish dic(15;18)(tel 18p-, D15Z1+, wcp18-, wcp 18+, D18Z1+, tel 18q+). The foetal autopsy disclosed subtle facial dysmorphisms and corpus callosum hypoplasia. In case of prenatal detection of de novo terminal ectopic NORs an accurate cytogenetic and molecular analysis should be performed in order to rule out subtle unbalancements. 相似文献
4.
Summary The clinical features and cytogenetic Giemsa banding studies of a case of partial trisomy 4p [47,XX,+der(21), der(4), der(21), t(4p 21p;4q 21q) mat] are presented. This aberration resulted from a reciprocal translocation rcq(4p 21p; 4q 21q) found in the mother. 相似文献
5.
Woroniecka R Pieńkowska-Grela B Grygalewicz B Rygier J Witkowska A Rymkiewicz G Jarosińska-Romejko J 《Journal of applied genetics》2002,43(4):545-553
According to the REAL/WHO classification, the diagnosis of mantle cell lymphoma (MCL) should be based on clinical, histopathological, immunological and cytogenetic or molecular data. This study is based on 13 cases, which were initially diagnosed as MCL with the use of conventional cytogenetic method and fluorescent in situ hybridization (FISH). MCL is associated with a specific cytogenetic aberration t(11;14)(q13;q32). The chromosomal analyses confirmed the MCL diagnosis in four cases. A neartetraploid cell line and two copies of t(11;14) were observed in three cases. These results correspond with a blastoid variant of MCL, accompanied by aggressive course and poor prognosis. The presence of karyotype with t(11;14) as the sole anomaly predicts an intermediate clinical outcome. Six patients had normal karyotypes, which is characteristic for the typical form of MCL, associated with a better prognosis. In this study we show that detection of chromosomal abnormalities is useful in diagnosis of MCL and has some prognostic significance. 相似文献
6.
We describe a 7-month-old male child with Silver-Russel syndrome (SRS) phenotype, presented with two major clinical features: low birth weight, short stature, and minor features, such as macrocephaly, clinodactyly, essential for the diagnosis of SRS. Routine cytogenetic studies with GTG-banding showed 46,XY,t(11;16)(p13;q24.3). Fluorescence in situ hybridisation (FISH) with single copy probes BAC (11p13) and PAC (16q24.3), showed a reciprocal translocation. Chromosomal analysis of the mother was normal and the phenotypically normal father had apparently identical translocation t(11;16)(p13;q24.3). The disruption of growth factor genes at 11p and 16q breakpoint regions due to reciprocal translocation in the father might have caused SRS phenotype in the child. 相似文献
7.
Partial duplication of 17 long arm 总被引:1,自引:0,他引:1
E Lenzini A Leszl L Artifoni R Casellato R Tenconi C Baccichetti 《Annales de génétique》1988,31(3):175-180
Three subjects from 2 unrelated families with partial duplication of 17q, derived from a reciprocal parental translocation between chromosomes 11 and 17 with different breakpoints, are described. A female patient from one family with a 46,XX,-11,+der(11),t(11;17)(q24;q23.2)pat chromosome complement had died at 2 months of age. In the second family, a male propositus and a subsequent fetus, identified by cytogenetic prenatal diagnosis, showed a 46,XY,-11,+der(11),t(11;17)(q2505,q24.3) mat chromosome complement. Twelve other cases involving partial duplication of chromosome 17 have been reported, 11 of these derived from a balanced translocation, and 1 was a duplication. All these cases showed psychomotor and mental retardation, cranial contour anomalies, micrognathia, bulbous nose, short neck, skeletal anomalies, and CNS defects. The phenotypic and clinical observations in the three subjects of this report are compared with previously reported findings. 相似文献
8.
Tüysüz B Hacihanefioglu S Silahtaroglu A Yilmaz S Deviren A Cenani A 《Genetic counseling (Geneva, Switzerland)》2000,11(4):355-361
We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10q syndrome. Their cytogenetic analysis using GTG-banding showed an unbalanced translocation 46, XY, -20, +der(20), t(10;20)(q22.3, p11) mat and 46, XX, -20, +der(20), t(10;20)(q22.3, p11) mat. The translocation was confirmed by FISH. We have found balanced translocation t(10;20)(q22.3; p11) with cytogenetic and FISH studies in the mothers and maternal grandfather of these children. Our cases had typical craniofacial and visceral anomalies of this syndrome. However case 1 had an agenesia of corpus callosum which was not previously described and case 2 had hypertrophied cardiomyopathy and cliteromegaly which were previously described as rare anomalies for this syndrome. 相似文献
9.
Celep F Acar H Aynaci O Aynaci FM Karagüzel A 《Genetic counseling (Geneva, Switzerland)》2001,12(4):319-326
Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies: In this report, we present the clinical history and findings in a 6-month-old male with multiple congenital anomalies, developmental delay, and an initial male karyotype with 4q+. The origin of the additional segment on 4q was unequivocally established by fluorescence in situ hybridization (FISH). Whole chromosome probe for chromosome 4 and chromosome 15-specific a-satellite probe were used. The karyotype was demonstrated to be 46,XY,der(4), t(4;15)(q35;?),inv(9)(p13q13). To the best of our knowledge the above cytogenetic abnormalities with these clinical findings have not been described previously. This case further demonstrates the advantage of FISH in the identification of anomalous chromosome regions and breakpoints. 相似文献
10.
Mef Nilbert Sverre Heim Nils Mandahl Ulla-Maria Flodérus Helena Willén Felix Mitelman 《Human genetics》1990,85(6):605-611
Summary The cytogenetic analysis of 224 leiomyomas from 138 patients is presented. An insufficient number of mitoses was found in 35 tumors, normal karyotypes in 145, and clonal chromosome aberrations were detected in 44. The three previously identified cytogenetic subgroups were all represented in this series: del(7) (q21.2q31.2) was found in 11, trisomy 12 in five, and t(12;14)(q14-15;q23-24) in one leiomyoma. Rearrangements of 6p, including deletions, inversions, and various translocations, were found in eight tumors, thus delineating a new cytogenetic subgroup of uterine leiomyoma. The remaining 21 karyotypically abnormal tumors had nonrecurrent changes. One leiomyoma had two cytogenetically unrelated clones characterized by del(7)(q21.2 q31.2) and +12. Karyotypic changes in two separate leiomyomas from the same uterus were identified in five patients; in three of them, different anomalies were found in the two tumors, whereas cytogenetically identical aberrations – del(7q) and dic(21;22) – were detected in two macroscopically discrete tumors. These findings suggest that whereas some multiple leiomyomas originate independently, others may be derived from the same neoplastic clone. 相似文献
11.
12.
Yosunkaya Fenerci E Guven GS Kuru D Yilmaz S Tarkan-Argüden Y Cirakoglu A Deviren A Yüksel A Hacihanefioğlu S 《Genetic counseling (Geneva, Switzerland)》2007,18(4):401-408
Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome. We report a nine-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother, and originated in the maternal grandmother's meiosis. In addition to mental retardation, hypotonia, craniofacial anomalies, and cryptorchidism, he has novel findings such as, joint hyperextensibility, left liver lobe agenesis, left sided malposition of the gallbladder and pancreas hypoplasia. This is the first report associating these features with Emanuel syndrome. 相似文献
13.
The t(11;22)(q23;q11) translocation is the most frequently encountered familial reciprocal translocation in humans. In the majority of reported cases ascertainment has been through the birth of a child with the chromosomal constitution 47,XX,+der(22) or 47,XY,+der(22), i.e., tertiary trisomy. Previous segregation analysis of familial cases showed a number of interesting features. Thus, euploid unbalanced genotypes resulting from adjacent segregation are absent in the progeny, and only tertiary trisomic offspring are recovered. To explain this unusual progeny output we present here a model for the meiotic behavior of this translocation in the carriers based on an analysis of cytogenetic data of progeny of carriers. This model predicts the formation of a chain trivalent with chromosome order 11-der(11)-22 during prophase I and its predominant alternate orientation at metaphase I. 相似文献
14.
Alexander Cooke John L. Tolmie James M. Colgan Caroline M. Greig J. Michael Connor 《Human genetics》1989,83(1):83-87
Summary A child with impaired intelligence, minor dysmorphisms, obesity and genital hypoplasia was found to have an apparently balanced translocation, 46,XY,t(4;14)(q12;q13), following cytogenetic analysis. The same rearrangement was also detected in the child's father, who had similar phenotypic abnormalities to his son. Detailed study of flow karyotypes produced from lymphoblastoid cell lines established that in both patients the translocation was in fact unbalanced with approximately 11 million base pairs of DNA (corresponding to about 6.0% of chromosome 4 or 11.0% of chromosome 14) being lost. 相似文献
15.
Nanjangud G Rao PH Teruya-Feldstein J Donnelly G Qin J Mehra S Jhanwar SC Zelenetz AD Chaganti RS 《Cytogenetic and genome research》2007,118(2-4):337-344
We analyzed a cohort of 61 follicular lymphomas (FL) with an abnormal G-banded karyotype by spectral karyotyping (SKY) to better define the chromosome instability associated with the t(14;18)(q32;q21) positive and negative subsets of FL and histologic grade. In more than 70% of the patients, SKY provided additional cytogenetic information and up to 40% of the structural abnormalities were revised. The six most frequent breakpoints in both SKY and G-banding analyses were 14q32, 18q21, 3q27, 1q11-q21, 6q11-q15 and 1p36 (15-77%). SKY detected nine additional sites (1p11-p13, 2p11-p13, 6q21, 8q24, 6q21, 9p13, 10q22-q24, 12q11-q13 and 17q11-q21) at an incidence of >10%. In addition to the known recurring translocations, t(14;18)(q32;q21) [70%], t(3;14)(q27;q32) [10%], t(1;14)(q21;q32) [5%] and t(8;14)(q24;q32) [2%] and their variants, 125 non-IG gene translocations were identified of which four were recurrent within this series. In contrast to G-banding analysis, SKY revealed a greater degree of karyotypic instability in the t(14;18) (q32;q21) negative subset compared to the t(14;18)(q32;q21) positive subset. Translocations of 3q27 and gains of chromosome 1 were significantly more frequent in the former subset. SKY also allowed a better definition of chromosomal imbalances, thus 37% of the deletions detected by G-banding were shown to be unbalanced translocations leading to gain of genetic material. The majority of recurring (>10%) imbalances were detected at a greater (2-3 fold) incidence by SKY and several regions were narrowed down, notably at gain 2p13-p21, 2q11-q21, 2q31-q37, 12q12-q15, 17q21-q25 and 18q21. Chromosomal abnormalities among the different histologic grades were consistent with an evolution from low to high grade disease and breaks at 6q11-q15 and 8q24 and gain of 7/7q and 8/8q associated significantly with histologic progression. This study also indicates that in addition to gains and losses, non-IG gene translocations involving 1p11-p13, 1p36, 1q11-q21, 8q24, 9p13, and 17q11-q21 play an important role in the histologic progression of FL with t(14;18)(q32;q21) and t(3q27). 相似文献
16.
Sureshkumar Raveendran Santhi Sarojam Geetha Narayanan Hariharan Sreedharan 《Indian journal of human genetics》2014,20(1):79-81
Acute lymphoblastic leukemia is a malignant disease of the bone marrow in which early lymphoid precursors proliferate and replace the normal hematopoietic cells of the marrow. We describe the clinical, morphologic, immunophenotypic and cytogenetic findings in the case of a 26-year-old man with B-lymphoblastic leukemia. Surface marker analysis revealed that they are positive for CD markers CD10, CD19, CD13, CD34, CD45 and HLA-DR, but negative for CD20, CD33, CD117 and CD11C markers. Cytogenetic analysis established a novel translocation, t (9;14)(p24;q13). Apart from this, spectral karyotyping revealed an additional translocation, t (6p; 14q). This is the first documented case of B-lymphoblastic leukemia with concurrent occurrence of both abnormalities. Further studies are needed to understand the role of this abnormality in carcinogenesis. 相似文献
17.
Relationship of the human protooncogene CBL2 on 11q23 to the t(4;11), t(11;22), and t(11;14) breakpoints 总被引:2,自引:0,他引:2
P D Savage M Shapiro W Y Langdon A D Geurts van Kessel H N Seuanez Y Akao C Croce H C Morse J H Kersey 《Cytogenetics and cell genetics》1991,56(2):112-115
A probe identifying CBL2, the human cellular homolog of the murine oncogene v-cbl and murine cellular protooncogene Cbl-2, and panels of rodent X human somatic cell hybrids were used to study the relationship of this protooncogene to translocations associated with acute leukemia, lymphoma, and Ewing sarcoma. CBL2 was mapped to 11q23 and found to translocate from chromosome 11 to 4 in an acute leukemia cell line possessing a t(4;11)(q21;q23) and from chromosome 11 to 14 in a B-cell lymphoma with a t(11;14)(q23;q32). In an Ewing sarcoma cell line with a t(11;22)(q23;q12), however, CBL2 remained on chromosome 11. Additional studies of other genes in the region of 11q23 allowed the following ordering of these genes and breakpoints: 11cen--q23--NCAM--CD3(E-D-G)--[t(11;14), t(4;11)]--(THY1, CBL2, ETS1)--t(11;22)--11qter. The gross structure of the CBL2 sequences examined was not altered by either of the flanking breakpoints. Given that the 5' and 3' ends of the CBL2 gene are not known and are probably not evaluated by the v-cbl probe, these results do not rule out the possibility of CBL2 involvement in the pathogenesis of a subset of acute leukemias possessing a t(4;11), B-cell lymphomas possessing a t(11;14), or Ewing sarcomas possessing a t(11;22). 相似文献
18.
A 13-year-old girl with an unbalanced karyotype 45,XX,-15,der(22)t(15;22)(q13;q13.3) de novo had Prader-Willi syndrome (PWS), (score 13.5), but with features of mental and physical retardation more severe than usually seen in PWS. The clinical diagnosis of PWS was confirmed by methylation analysis that showed absence of the paternal band. With GTG banding, the cytogenetic breakpoint on chromosome 15q13, with 15q14 intact, encompassed the PWS region, while the breakpoint on 22q was terminal. Investigations with FISH utilised ten different probes/combinations, namely SNRPN/PML, TUPLE1/22q13.3, TUPLE/ARSA, GABRB3, three YAC clones and one cosmid for specific regions within chromosome 15q, painting probes for the long arm of chromosomes 15 and 22 and a pantelomere probe. Deletion of SNRPN,TYAC 9 (at 15q11-12), TYAC19 (at 15q13) and GABRB3 (within the PWS locus), was evident on the derivative (22) chromosome, while TYAC10 (at 15q22), cos15-5 (at 15q22) and PML (15q22) were not deleted. On the der(22), 22q13.3 and ARSA were not deleted, but the most distal non specific pantelomeric probe was deleted. Thus, the severe phenotype could be attributable to deletion on chromosome 15q extending beyond q13 to q14, (further than the usual chromosome 15q deletion (q11-13) in PWS), or be related to loss of the very terminal 22q region (from ARSA to the pantelomere) or be due to genetic factors elsewhere in the genome. 相似文献
19.
Cetin Z Berker Karaüzüm S Yakut S Mihçi E Baumer A Wey E Taçoy S Bağci G Lüleci G 《Genetic counseling (Geneva, Switzerland)》2005,16(3):257-268
Until recently, presence of de novo marker or derivative chromosomes was quite problematic for genetic counseling especially in prenatal diagnosis, because characterization of marker and derivative chromosomes by conventional cytogenetic techniques was nearly impossible. However, recently developed molecular cytogenetic technique named Multicolor Fluorescence in Situ Hybridization (M-FISH) which paints all human chromosomes in 24 different colors allows us to characterize marker and derivative chromosomes in a single hybridization. In this study, we applied M-FISH to determine the origin of 3 marker and 3 derivative chromosomes. Marker chromosomes were found to originate from chromosome 15 in two postnatal and one prenatal case. Of these, one of the postnatal cases displayed clinical findings of inv dup (115) syndrome and the other of infertility, and the prenatal case went through amniocentesis due to the triple test results. Karyotypes of the patients with derivative chromosomes were designated as 46,XY,der (21)t(1;21)(q32;p11), 46,XX,der(8)t(8;9)(p23;p22) and 46,XX,der(18)t(18;20)(q32;p11.2) according to cytogenetic and M-FISH studies. All of the M-FISH results were confirmed with locus specific or whole chromosome painting probes. The case with der (8)t(8;9) had trisomy 9(p22-pter) and monosomy 8(p23-pter) due to this derivative chromosome. The case with der(18)t(18;20) had trisomy 20(p11.2-pter) and monosomy 18(q32-qter). Parental origins of the derivative chromosomes were analyzed using microsatellite markers located in the trisomic chromosomal segments. Patients' clinical findings were compared with the literature. 相似文献
20.
Chromosomes 17 and 22 involved in marker formation in neurofibrosarcoma in von Recklinghausen disease 总被引:1,自引:1,他引:0
Hans-Joachim H. Decker Linda A. Cannizzaro Michael J. Mendez Stanley P. L. Leong Helen Bixenman Carol Berger Avery A. Sandberg 《Human genetics》1990,85(3):337-342
Summary We describe the cytogenetic findings in a recurrent neurofibrosarcoma in a patient with nonfamilial von Recklinghausen disease. The composite karyotype was: 40,Y,-X,+dic r(X;20)(:Xp22.2q26::20p13 q13:), -1, +der(1)t(1;3) (p21;p24),-3,-4,-5,+der(5) t(5;?)(q31;?),-9,-9,+der(9)t(3;9)(q21 or q13;p24 or p22), -11,+der(11)t(11;?)(q22.2;?), -17,+der(17)t(17; 22;?)(q21;q13.1;?), -20, -21, -22, -22, +der(22)t(17; 22;?)(q21;q13.1;?),t(2;10)(q37;q22). The derivative chromosomes were demonstrated at the 500 band level. Chromosomes 17 and 22 were shown to be involved in an unbalanced three-way translocation: t(17;22;?)(q21;q13.1;?). This event was confirmed by in situ hybridization, using two probes mapped to chromosome 17. Hill H is a probe derived from the novel oncogene TRE and is located at 17q12–22. The second probe, derived from the granulocyte colony-stimulating factor (G-CSF), is located at 17q11–q21. The rearrangement between chromosomes 17 and 22 showed breakpoints similar or close to the gene loci for neurofibromatosis 1 (NF-1) and NF-2. Based on our observations we recommend that genetic studies on NF-1 tumors include both gene sites (NF-1 and NF-2) rather than focus on one gene locus. 相似文献