共查询到20条相似文献,搜索用时 0 毫秒
1.
Chih-Ping Chen Chen-Ju Lin Tung-Yao Chang Schu-Rern Chern Peih-Shan Wu Yu-Ting Chen Jun-Wei Su Chen-Chi Lee Li-Feng Chen Wayseen Wang 《Gene》2013
We present rapid aneuploidy diagnosis of ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions by aCGH using uncultured amniocytes in a fetus with IUGR, microcephaly, lissencephaly and ambiguous external genitalia. Our case adds lissencephaly to the list of CNS abnormalities in ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions. We discuss the consequence of haploinsufficiency of HDAC4, KIF1A, PASK, HDLBP, FRAP2 and D2HGDH on 2q37.3, and haploinsufficiency of MYT1L, SNTG2 and TPO on 2p25.3 in this case. 相似文献
2.
Xiaoqing Wu Xiaorui Xie Linjuan Su Na Lin Bin Liang Nan Guo Qingquan Chen Liangpu Xu Hailong Huang 《Journal of cellular and molecular medicine》2021,25(18):8929-8935
Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder usually caused by mosaicism of an extra isochromosome of 12p (i(12p)). This retrospective study analysed the prenatal ultrasound manifestations and molecular and cytogenetic results of five PKS foetuses. Samples of amniotic fluid and/or cord blood, skin biopsy and placenta were collected. Conventional karyotyping and single nucleotide polymorphism array (SNP array) were performed on all the amniotic fluid or cord blood samples. Copy number variants sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were also used for the validation for one foetus. All the five foetuses were from pregnancies with advanced parental age. Two foetuses involved structural abnormalities and one foetus had only soft markers, all of which included increased nuchal translucency. The rest two foetuses had normal ultrasounds in the second trimester, which has rarely been reported before. The karyotype revealed typical i(12p) in four cases and a small supernumerary marker chromosome consisting of 12p and 20p in the remaining one case. The proportion of cells with i(12p) ranged from 0 to 100% in cultural cells, while SNP array results suggested 2−4 copies of 12p. For one foetus, metaphase FISH showed normal results, but the interphase FISH suggested cell lines with two, three and four copies of 12p in the amniotic fluid. Advanced parental age may be an important risk factor for PKS, and there were no typical ultrasound manifestations related to PKS. A combination of karyotype analysis and molecular diagnosis is an effective method for the diagnosis of PKS. 相似文献
3.
Chih-Ping Chen Jian-Pei Huang Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Yu-Ting Chen Wen-Lin Chen Wayseen Wang 《Gene》2013
We present prenatal diagnosis of de novo 22q11.2 microdeletion syndrome using uncultured amniocytes in a pregnancy with conotruncal heart malformations in the fetus. We discuss the genotype–phenotype correlation and the consequence of haploinsufficiency of TBX1, COMT, UFD1L, GNB1L and MED15 in the deleted region. We review the literature of chromosomal loci and genes responsible for conotruncal heart malformations and tetralogy of Fallot. 相似文献
4.
Luca Bartolini Stefano Sartori Elisabetta Lenzini Chiara Rigon Elisa Cainelli Cristina Agrati Irene Toldo Marta Donà Eva Trevisson 《Gene》2013
We report on a boy with speech delay, mental retardation, motor clumsiness, hyperactivity, dysmorphic facial features, brachytelephalangy and short stature. Electrocardiogram, echocardiography, renal ultrasound, electroencephalogram, fundoscopic exam and auditory brainstem responses were all normal. Brain magnetic resonance imaging showed a left temporal arachnoid cyst and a small pineal gland cyst. 相似文献
5.
Chih-Ping Chen Po-Jen Cheng Shuenn-Dyh Chang Yi-Xuan Lee Jin-Chung Shih Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Yu-Ting Chen Adam Hwa-Ming Hsieh Teresa Hsiao-Tien Chen Li-Feng Chen Wayseen Wang 《Gene》2013
We present perinatal findings and molecular cytogenetic characterization of a prenatally detected sacrococcygeal teratoma associated with mosaic r(21). This is the first report of mosaic r(21) presenting with a fetal sacrococcygeal teratoma. We discuss cytogenetic abnormalities associated with fetal sacrococcygeal teratomas. 相似文献
6.
Peters SA Bargsten JW Szinay D van de Belt J Visser RG Bai Y de Jong H 《The Plant journal : for cell and molecular biology》2012,71(4):602-614
We have analysed the structural homology in euchromatin regions of tomato, potato and pepper with special attention for the long arm of chromosome 2 (2L). Molecular organization and colinear junctions were delineated using multi-color BAC FISH analysis and comparative sequence alignment. We found large-scale rearrangements including inversions and segmental translocations that were not reported in previous comparative studies. Some of the structural rearrangements are specific for the tomato clade, and differentiate tomato from potato, pepper and other Solanaceous species. Although local gene vicinity is largely preserved, there are many small-scale synteny perturbations. Gene adjacency in the aligned segments was frequently disrupted for 47% of the ortholog pairs as a result of gene and LTR retrotransposon insertions, and occasionally by single gene inversions and translocations. Our data also suggests that long distance intra-chromosomal rearrangements and local gene rearrangements have evolved frequently during speciation in the Solanum genus, and that small changes are more prevalent than large-scale differences. The occurrence of sonata and harbinger transposable elements and other repeats near or at junction breaks is considered in the light of repeat-mediated rearrangements and a reconstruction scenario for an ancestral 2L topology is discussed. 相似文献
7.
Chih-Ping Chen Yao-Lung Chang Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Wen-Lin Chen Li-Feng Chen Wayseen Wang 《Gene》2013
We present rapid aneuploidy diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin by aCGH using uncultured amniocytes in a fetus with hypotonia, scoliosis, arthrogryposis, hyperextensible joints, facial dysmorphism, ventricular septal defect, pulmonary stenosis, clenched hands, clubfoot, scalp edema and right hydronephrosis. We discuss the genotype–phenotype correlation of 3q duplication syndrome and terminal 14q deletion syndrome. We demonstrate that fetuses with a paternal-origin deletion of 14q involving the 14q32.2 imprinted region may prenatally present the upd(14)mat-like phenotype such as hypotonia, scoliosis, arthrogryposis and hyperextensible joints. 相似文献
8.
Chih-Ping Chen Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Yu-Ting Chen Li-Feng Chen Wayseen Wang 《Gene》2013
We present rapid aneuploidy diagnosis of de novo partial trisomy 12q (12q24.21 → qter) and partial monosomy 6q (6q27 → qter) by aCGH using uncultured amniocytes in a fetus with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. We discuss the association of TBX3, TBX5 and MED13L gene duplication with coarctation of the aorta, and the association of RNASET2 gene haploinsufficiency with ventriculomegaly in this case. 相似文献
9.
Chih-Ping Chen Ming Chen Yi-Ning Su Jian-Pei Huang Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Shun-Ping Chang Yu-Ting Chen Chen-Chi Lee Li-Feng Chen Chen-Wen Pan Wayseen Wang 《Gene》2013
We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype–phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case. 相似文献
10.
Chih-Ping Chen Meng-Ju Lee Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Yu-Ting Chen Meng-Shan Lee Wayseen Wang 《Gene》2013
We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14) and molecular cytogenetic characterization of the deletion using uncultured amniocytes. We review the phenotypic abnormalities of previously reported patients with similar proximal interstitial 4p deletions, and we discuss the functions of the genes of RBPJ, CCKAR, STIM2, PCDH7 and ARAP2 that are deleted within this region. 相似文献
11.
ZOILA DÍAZ LIFANTE CRISTINA ANDRÉS CAMACHO JUAN VIRUEL ADORACIÓN CABRERA CABALLERO 《Botanical journal of the Linnean Society. Linnean Society of London》2009,159(3):477-498
Karyological and genomic in situ hybridization (GISH) approaches provided evidence of the parentage and origin of the hybrid species Narcissus obsoletus. Here, we demonstrate that the putative parental species, N. serotinus L. and N. elegans (Haw.) Spach, recently proposed because of their intermediate morphological traits, have participated in the hybridization process forming this taxon. Karyotype characterization of parental genomes in populations from S Spain and N Morocco has revealed differences in chromosome length and karyotype asymmetry, highlighting their diploid nature. Multicolour GISH on metaphase plates of N. obsoletus, with N. serotinus and N. elegans DNA used as probes, showed differential fluorescent staining of 10 and 20 chromosomes from parental genomes, respectively. Both parental genomes were detected in the allopolyploid, albeit in a duplicated manner. Secondary hybridization between N. obsoletus and N. serotinus was also detected karyologically. Little karyological differentiation between different geographic regions was found in either N. serotinus or N. obsoletus. © 2009 The Linnean Society of London, Botanical Journal of the Linnean Society, 2009, 159 , 477–498. 相似文献
12.
Supernumerary marker chromosomes (SMC) are heterogeneous group of chromosomes which are reported in variable phenotypes. Approximately 70% originate from acrocentric chromosomes. Here we report a couple with recurrent miscarriages and a SMC originating from an acrocentric chromosome. The cytogenetic analysis of the husband revealed a karyotype of 47,XY+marker whereas the wife had a normal karyotype. Analysis of SMC with C-banding showed the presence of a big centromere in the center and silver staining showed prominent satellites on both sides of the marker. Apparently, microarray analysis revealed a 2.1 Mb duplication of 15q11.2 region but molecular cytogenetic analysis by fluorescence in situ hybridization (FISH) with whole chromosome paint (WCP) 15 showed that the SMC is not of chromosome 15 origin. Subsequently, FISH with centromere 22 identified the SMC to originate from chromosome 22 which was also confirmed by WCP 22. Additional dual FISH with centromere 22 and Acro-p-arm probes confirmed the centromere 22 and satellites on the SMC. Further fine mapping of the marker with Bacterial Artificial Chromosome (BAC) clones; two on chromosome 22 and four on chromosome 15 determined the marker to possess only centromere 22 sequences and that the duplication 15 exists directly on chromosome 15. In our study, we had identified and characterized a SMC showing inversion duplication 22(p11.1) combined with a direct tandem duplication of 15q11.2. The possible genotype–phenotype in relation with the two rearrangements is discussed. 相似文献
13.
Chih-Ping Chen Ming Chen Chen-Yu Chen Schu-Rern Chern Peih-Shan Wu Shun-Ping Chang Yu-Ling Kuo Wen-Lin Chen Chen-Wen Pan Wayseen Wang 《Gene》2014
We present prenatal diagnosis and molecular cytogenetic characterization of de novo pure trisomy 6p22.3 → p25.3 encompassing BMP6 in a fetus associated with microcephaly and craniosynostosis on prenatal ultrasound, abnormal maternal serum biochemistry of a low PAPP-A level in the first-trimester combined test, and a karyotype of 46,XX,der(22)t(6;22)(p22.3;p13)dn. The present case demonstrates the usefulness of rapid prenatal identification of the origin of the extra chromosome material on the short arm of an acrocentric chromosome by spectral karyotyping, fluorescence in situ hybridization and array comparative genomic hybridization. We review the phenotypic abnormality of craniosynostosis in previously reported patients with partial trisomy 6p. We discuss the genotype–phenotype correlation of the involved gene of BMP6 in this case. 相似文献
14.
Chih-Ping Chen Shing-Jyh Chang Schu-Rern Chern Peih-Shan Wu Yu-Ting Chen Jun-Wei Su Wen-Lin Chen Wayseen Wang 《Gene》2013
We present prenatal diagnosis and molecular cytogenetic characterization of de novo interstitial deletion of 7q (7q22.1 → q31.1) by aCGH, FISH and QF-PCR in a fetus with an abnormal maternal serum screening result and ultrasound findings of facial cleft and hypogenitalism. We discuss the genotype–phenotype correlation and the consequence of haploinsufficiency of ZKSCAN5, ARPC1A, CYP3A43, RELN, LAMB1, IMMP2L and DOCK4 in this case. 相似文献
15.
Detection of specific chromosome reduction in rice somatic hybrids with the A, B, and C genomes by multi-color genomic in situ hybridization 总被引:8,自引:0,他引:8
R. Shishido S. Apisitwanich N. Ohmido Y. Okinaka K. Mori K. Fukui 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》1998,97(7):1013-1018
A multi-color genomic in situ hybridization (McGISH) method has been developed. Three different rice genomes, A, B and C, involved in rice somatic hybrids
were distinguished using three different fluorescent signals. All the rice chromosomes from the different genomes could be
identified by different fluorescent colors, and the distribution of each genome in the nucleus was clearly visualized under
a fluorescence microscope. The relationship between chromosomal constitution and morphological variations observed in the
somatic hybrids, and the utility of McGISH, are discussed based on the results currently obtained.
Received: 21 November 1997 / Accepted: 9 December 1997 相似文献
16.
We report on a 36-year-old infertile woman, presenting a premature ovarian failure with an otherwise normal female phenotype. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, that was characterized by FISH (fluorescent in situ hybridization) and array CGH (comparative genomic hybridization). This marker chromosome was derived from chromosome 15, and contained only heterochromatic material. The Prader Willi/Angelman region was not present. No duplications of the 15q regions were detected by array CGH. Supernumerary markers of chromosome 15 have been reported in cases of infertility and amenorrhea, that is also described in cases with marker derived by other acrocentric chromosomes. The case here presented constitutes a further example that etiology of POF is not always associated with a defective gene, but in some cases oocytes atresia can be the consequence of the abnormal meiotic pairing of chromosomes. 相似文献
17.
Inesse Ben-Abdallah-Bouhjar Soumya Mougou-Zerelli Hanene Hannachi Hela Ben-Khelifa Najla Soyah Audrey Labalme Damien Sanlaville Hatem Elghezal Ali Saad 《Gene》2013
Partial duplication of 11q is related to several malformations like growth retardation, intellectual disability, hypoplasia of corpus callosum, short nose, palate defects, cardiac, urinary tract abnormalities and neural tube defects. We have studied the clinical and molecular characteristics of a patient with severe intellectual disabilities, dysmorphic features, congenital inguinal hernia and congenital cerebral malformation which is referred to as cytogenetic exploration. We have used FISH and array CGH analysis for a better understanding of the double chromosomic aberration involving a 7p microdeletion along with a partial duplication of 11q due to adjacent segregation of a paternal reciprocal translocation t(7;11)(p22;q21) revealed after banding analysis. The patient's karyotype formula was: 46,XY,der(7)t(7;11)(p22;q21)pat. FISH study confirmed these rearrangement and array CGH technique showed precisely the loss of at least 140 Kb on chromosome7p22.3pter and 33.4 Mb on chromosome11q22.1q25. Dysmorphic features, severe intellectual disability and brain malformations could result from the 11q22.1q25 trisomy. Our study provides an additional case for better understanding and delineating the partial duplication 11q. 相似文献
18.
Nenad Bukvic Carla CesaranoCaterina Ceccarini Marianna BrunoMaria Rosaria Lipsi Maria Grazia GallicchioMaria Assunta Carboni Lucia ValenteGiulia Cotoia Raffaele Antonetti 《Gene》2013
Herein, we describe a case of an infertile man detected in postnatal diagnosis with FISH characterization and array-CGH used for genome-wide screening which allowed the identification of a complex rearrangement involving sex chromosomes, apparently without severe phenotypic consequences. The deletion detected in our patient has been compared with previously reported cases leading us to propose a hypothetical diagnostic algorithm that would be useful in similar clinical situations, with imperative multi disciplinary approach integrated with genetic counseling. Our patient, uniquely of reproductive age, is one of six reported cases of duplication of Xp22.3 (~ 8.4 Mb) segment and contemporary deletion of Yq (~ 42.9 Mb) with final karyotype as follows:
- 46,X,der(Y),t(X;Y)(Ypter → Yq11.221::Xp22.33 → Xpter).ish der(Y) (Yptel+,Ycen+,RP11-529I21+,RP11-506M9-Yqtel −,Xptel +). arrXp22.33p22.31(702–8,395,963, 8,408,289x1), Yq11.221q12 (14,569,317x1, 14,587,321–57,440,839x0) 相似文献
19.
Recalcati MP Bellini M Norsa L Ballarati L Caselli R Russo S Larizza L Giardino D 《Gene》2012,502(1):40-45
We describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome 9 defined by means of molecular cytogenetic techniques. The rearrangement is characterized by a 18.3 Mb terminal deletion associated with the inverted duplication of the adjacent 21,5 Mb region. The patient shows developmental delay, psychomotor retardation, hypotonia. Other typical features of 9p deletion (genital disorders, midface hypoplasia, long philtrum) and of the 9p duplication (brachycephaly, down slanting palpebral fissures and bulbous nasal tip) are present. Interestingly, he does not show trigonocephaly that is the most prominent dysmorphism associated with the deletion of the short arm of chromosome 9. Patient's phenotype and the underlying flanking opposite 9p imbalances are compared with that of reported patients and the proposed critical regions for 9p deletion and 9p duplication syndromes. 相似文献