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Wu Lin-Bo LB Plant Nutrition, Institute for Crop Science and Resource Conservation (INRES), University of Bonn, Karlrobert-Kreiten-Straße 13, Bonn, 53115, - - 2014
Fe toxicity occurs in lowland rice production due to excess ferrous iron (Fe(2+)) formation in reduced soils. To contribute to the breeding for tolerance to Fe toxicity in rice, we determined quantitative trait loci (QTL) by screening two different bi-parental mapping populations under iron pulse stresses (1,000 mg L(-1) = 17.9 mM Fe(2+) for 5 days) ...
Anuradha K - - 2012
Identifying QTLs/genes for iron and zinc in rice grains can help in biofortification programs. 168 F(7) RILs derived from Madhukar×Swarna were used to map QTLs for iron and zinc concentrations in unpolished rice grains. Iron ranged from 0.2 to 224ppm and zinc ranged from 0.4 to 104ppm. Genome wide mapping ...
Armengol Lluís - - 2012
Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown. We have conducted a comparative study of currently available methodologies for detection of chromosomal abnormalities after invasive prenatal sampling.A multicentric collection of a 1-year series ...
Xu Donghe - - 2012
Salt-affected soils are generally classified into two main categories: saline and sodic (alkaline). Developing and using soybean (Glycine max (L.) Merr) cultivars with high salt tolerance is an effective way of maintaining sustainable production in areas where soybean growth is threatened by salt stress. Early classical genetics studies revealed that ...
Čulić Vida - - 2011
Historically, 50% of spontaneously expelled abortuses have been thought to be chromosomally abnormal; about 60% are trisomies. In general, trisomy 16 is the most frequent chromosomal abnormality, followed by trisomy 21 and trisomy 22. So far only 1 case of a female fetus with multiple congenital malformations associated with full ...
Signon Laurence - - 2011
Mitotic cyclins drive initiation and progression through mitosis. However, their role during progression remains poorly understood due to their essential function in initiation of mitosis and redundant activities. The function of the principal mitotic cyclin, Clb2, in S. cerevisiae, was investigated during progression through anaphase in diploid cells after DNA ...
Tartaglia Edoardo - - 2011
Purpose. Partial trisomy 1q42-qter is a rare chromosomal aberration. Most cases arise from de novo unbalanced translocations or from unbalanced inheritance of parental balanced rearrangements. Methods. Descriptive case report. Results. A 4-year-old boy had shown an increased neck translucency at the fetal ultrasound examination performed at the 11th week of ...
Assmann Gerald - - 2011
Two juxtaglomerular cell tumors (JGCTs) were investigated in comparison with 14 endocrine tumors of the pancreas (ETPs), focusing on the cell cycle, apoptosis, and cytogenetic changes. JGCTs revealed nuclear accumulation of Cyclin D(1), together with the cyclin-dependent kinase inhibitors p21(Cip1/Waf1) and p27(Kip1). In contrast, no accumulation of Cyclin D(3), p53, ...
Palano G M - - 2010
This article reports the case of newborn with multiple dimorphisms (microcephaly, hypertelorism, wide and flat nasal bridge, small nose, long philtrum, microretrognathia, malformed and low-set ears, short neck, redundant nuchal skin, genital anomalies), admitted in the hospital after two days from delivery for torpor, poor food and cyanosis. Babies were ...
Gisselsson David D Department of Clinical Genetics, Lund University, University and Regional Laboratories, University Hospital, SE-221 85 Lund, Sweden. - - 2010
One extra chromosome copy (i.e., trisomy) is the most common type of chromosome aberration in cancer cells. The mechanisms behind the generation of trisomies in tumor cells are largely unknown, although it has been suggested that dysfunction of the spindle assembly checkpoint (SAC) leads to an accumulation of trisomies through ...
Deyter Gary M R - - 2010
The master regulators of the cell cycle are cyclin-dependent kinases (Cdks), which influence the function of a myriad of proteins via phosphorylation. Mitotic Cdk1 is activated by A-type, as well as B1- and B2-type, cyclins. However, the role of a third, conserved cyclin B family member, cyclin B3, is less ...
Yu Tao - - 2010
As the genomic basis for Down syndrome (DS), human trisomy 21 is the most common genetic cause of intellectual disability in children and young people. The genomic regions on human chromosome 21 (Hsa21) are syntenic to three regions in the mouse genome, located on mouse chromosome 10 (Mmu10), Mmu16, and ...
Lenzini Elisabetta - - 2010
The role of cryptic translocations in human syndromes is a matter of fact, though this phenomenon is apparently rare. Apart from episodic case reports due to the increasing application of new molecular cytogenetic techniques, no data on its frequency in the general population are currently available. Rearrangements due to the ...
Chen Chih-Ping - - 2010
To present the prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation (DWM), abnormal skull development, microcephaly and multiple congenital anomalies. A 42-year-old woman, gravida 6, para 1, was referred for amniocentesis at 18 weeks of gestation ...
Jelin Angie - - 2010
Duplication 9p syndrome (partial trisomy 9p) is characterized by craniofacial anomalies, mental retardation, and distal phalangeal hypoplasia. Here, we present a female patient with microcephaly and incomplete bilateral cleft lip and palate, whose initial cytogenetic analysis revealed a de novo trisomy 9p. The patient, now 21 years old, has persistent ...
Liehr T - - 2011
Unbalanced chromosomal abnormalities (UBCA) are reported for >50 euchromatic regions of almost all human autosomes. UBCA are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on a partial trisomy of chromosome 4 of the centromere-near region of the short arm ...
Wang Shuyu - - 2010
Surface plasmon resonance (SPR)-based technologies have been widely used to study biomolecular interactions including receptor-ligand, DNA-protein, and protein-protein interactions. In this pilot study, we used chromosome 21 as the genetic marker to appreciate the value of using SPR technology for the detection of chromosome aneuploidy. Four normal and four trisomy ...
Guo Qiwei - - 2010
BACKGROUND: Trisomies 13, 18, and 21 account for the majority of chromosomal aneuploidies detected in prenatal diagnosis. Diagnosis of these trisomies relies mainly on karyotype analysis. Several molecular methods have been developed for trisomy detection, but performance or throughput limitations of these methods currently constrain their use in routine testing. ...
Semerci C Nur - - 2010
We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay, speech disorder, hypertelorism, eye anomalies, hearing loss, low-set malformed ears, thin ...
de Lorenzi L - - 2010
This report concerns the cytogenetic analysis, using both C-banding and fluorescence in situ hybridisation techniques, of a sterile mare. Results obtained revealed a 2n = 65, XXX condition with no sign of mosaicism. The work supports the suggestion that X trisomy, rare in horse, causes infertility in mares and is ...
Lee Jong Ho JH Department of Laboratory Medicine, Yeungnam University College of Medicine, Daegu, - - 2010
Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is variable, from normal appearance to moderate mental retardation. Most cases of trisomy 2p and trisomy 18p result from the inheritance ...
Agoston Agoston T - - 2010
Pilomatricoma, also known as 'calcifying epithelioma of Malherbe', is a common skin adnexal tumor that mimics hair growth. Its proliferating cells seem distinctly programmed to undergo terminal differentiation and death. We report the first cytogenetic investigations of pilomatricoma. Trisomy 18 was shown, in an index case, by G-banded karyotyping. This ...
Norris-Kirby Alexis - - 2010
The vast majority of trisomies in spontaneous abortions (SAB) are single and of maternal origin, most frequently due to meiosis I errors. Triple trisomies are exceedingly rare (approximately 0.05% of spontaneous abortions), most often of maternal origin, and associated with increased maternal age. Some trisomic SAB specimens can exhibit abnormal ...
Dubé V - - 2010
Hydatidiform moles are gestational diseases with abnormal development of the villous trophoblast and characterized by an excess of paternal to maternal genetic material. Complete moles are usually diploid and androgenetic, and are thought to develop after the fertilization of an "empty ovum" by either a haploid spermatozoon or two spermatozoa. ...
Ettema A M - - 2010
To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with trisomy 21; and 17 fetuses with other trisomies were ...
Inage Eisuke - - 2010
Trisomy of 12p is a rare chromosomal abnormality, which sometimes coexists with other chromosomal anomalies. We report on a patient with a supernumerary chromosome involving chromosomes 12 and 14, which was confirmed by array-comparative genomic hybridization (aCGH). He had developmental delay and dysmorphic features overlapped with those of Pallister-Killian syndrome, ...
Vaglio Alicia - - 2010
We report a girl with a de novo pure partial trisomy 21 with some clinical features of Down syndrome. The girl patient presented a flat broad face, brachycephaly, and a flat nasal bridge. She also had upwardly slanted palpebral fissures, epicanthal folds, blepharitis, brushfield spots, and strabismus. Her mouth was ...
García-Delgado C - - 2010
The concurrence of a reciprocal translocation and an aneuploidy represent a rare coincidence and an interchromosome effect between these two events has been suggested. We report the case of a family with a t(1;15) in three generations which was identified through the evaluation ofa patient with classical trisomy 21 or ...
Ohnuki Y - - 2010
Cri-du-chat syndrome is caused by haploinsufficiency of the genes on the distal part of the short arm of chromosome 5, and characteristic features include microcephaly, developmental delays, and a distinctive high-pitched mewing cry. Most cri-du-chat syndrome cases result from a sporadic de novo deletion that is associated with a low ...
Girisha K M - - 2010
We report an unusual balanced translocation involving chromosomes 4 and 21 in a lady who had Down syndrome in her previous child. The most plausible explanation for this event is the 3:1 segregation of chromosomes at meiosis in her gametes leading to interchange trisomy 21.
Tuysuz B - - 2010
We describe a girl with microcephaly, short stature, coarse face, severe growth and developmental delay, seizures, hypertonia, bilateral flexion contractures of the knees, and a de novo 21;21 translocation trisomy 21 in peripheral blood lymphocytes. Fluorescence in situ hybridization (FISH) analysis confirmed the trisomy 21 translocation using whole chromosome painting ...
Al Achkar Walid - - 2010
Partial trisomy of the short arm of chromosome 9 is among the most common autosomal structural chromosomal anomalies leading to chromosomal imbalance in human. Clinical characteristics are craniofacial dysmorphism including hypertelorism, prominent nose, deep-set eyes, and down-slanting palpebral fissures. The degree of clinical severity in partial trisomy 9p roughly correlates ...
Ozer O - - 2010
Partial trisomy syndrome of chromosome 9 is one of the frequent autosomal trisomies with a well defined phenotype. Here we report two cases with different karyotypes and we aim to compare the phenotypic findings. The first case was an 8.5 months old boy with developmental delay. He had mental and ...
Tartaglia Nicole R - - 2010
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or ...
Gardiner Katheleen J - - 2010
Intellectual disability in Down syndrome (DS) ranges from low normal to severely impaired and has a significant impact on the quality-of-life of the individuals affected and their families. Because the incidence of DS remains at approximately 1 in 700 live births and the lifespan is now >50 years, development of ...
Jenderny Jutta - - 2010
INTRODUCTION: Low level of trisomy 13 mosaicism is a rare condition. In the present report, we describe a case of a 19-month-old boy with poor feeding, poor weight gain, mild dysmorphic features, mild muscular hypotonia, and speech delay. DISCUSSION: Cytogenetic analysis on metaphases of lymphocytes revealed an 8% mosaic Robertsonian ...
Vundinti Babu Rao - - 2009
We report a case of familial small supernumerary marker chromosome (sSMC)in a child with translocation Down syndrome (DS)and mother. The GTG-banded chromosomal analysis of DS child revealed 47,XY,+21,+mar and mother karyotype was 47,XX,+mar. The GTG-banded sSMC had a similar morphology of small acrocentric chromosomes. Fluorescence in situ hybridization (FISH)evaluation of ...
Elbracht Miriam - - 2009
We present clinical and molecular cytogenetic results of two unrelated patients with isolated distal trisomy of 2q33-qter and 2q35-q37.3 and a remarkable similar facial appearance. Common craniofacial features included a high hairline, broad nasal bridge, prominent nasal tip, thin upper lip vermillion, and large ears. Contrary to patients with duplications ...
Wang Hua-feng - - 2009
We report that a 63-year-old Chinese female had acute myeloblastic leukemia (AML) in which trisomy 21 (+21) was found as the sole acquired karyotypic abnormality. The blasts were positive for myeloperoxidase, and the immunophenotype was positive for cluster of differentiation 19 (CD19), CD33, CD34, and human leukocyte antigens (HLA)-DR. The ...
Quiroga R - - 2009
This report describes a case of mosaic Down syndrome due to an unusual karyotype in a patient conceived by assisted reproductive techniques and cryopreservation. The chromosomal complement consists of two different cell lines, one predominantly trisomic with a derivative chromosome due to a Robertsonian translocation (21;21) and another carrying a ...
Trivedi P J - - 2009
We report here two cases of trisomy 13 in acute myeloid leukemia M1 subtype. short-term unstimulated bone marrow and peripheral blood lymphocyte culture showed 47, XY, +13 in all metaphase plates and trisomy 13 was confirmed with whole chromosome paint probes. Trisomy 13 in AML-M1 is a rare numerical abnormality. ...
Schlegel Z - - 2009
We describe a new case of a male patient with a small marker chromosome present as 80% mosaic, derived from chromosome 5 with presence of posterior iridolenticular synechia, high hyperopia, epicanthic folds, hypertelorism, moderate developmental delay with lack of speech, macrocephaly, and subtle dysmorphic features including micrognathia, slightly rotated ears, ...
Puvabanditsin Surasak - - 2009
We report on a 15-month-old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve. ...
Oliver Tiffany Renee TR Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA. - - 2009
Previous studies on relatively small samples of individuals with trisomy 21 caused by paternally derived errors have shown that: (1) advanced paternal age is not a risk factor for chromosome 21 nondisjunction (NDJ), (2) absence of recombination, but not the location of recombination is associated with paternal NDJ and (3) ...
Xu Wei - - 2009
Chronic lymphocytic leukemia (CLL) is one of the most common lymphoid malignancies in Western countries, but is infrequent in Asian populations. To verify the incidence of trisomy 8 in Chinese patients with CLL, fluorescence in situ hybridization (FISH) was used in 140 CLL patients after routine chromosome analysis. Only two ...
Sun S C - - 2009
Distal trisomy of 10q is a rare chromosomal abnormality. Distal deletions of the terminal long arm of chromosome 15 have rarely been described. We report on a male infant with low birth weight and microcephaly, a flat face with a spacious forehead, low-set ears, blepharophimosis, microphthalmia, a small nose, and ...
Coppedè Fabio - - 2009
Folates are essential nutrients that are required for one-carbon biosynthetic and epigenetic processes. A deficiency in cellular folates results in aberrant DNA methylation, point mutations, chromosome breakage, defective chromosome recombination and aneuploidy. In 1999 it was first reported that impairments in folate/homocysteine metabolism, due to genetic polymorphisms of metabolic enzymes, ...
Robles P - - 2009
It is accepted that recombination errors during human female meiotic prophase have some influence on the origin of trisomy 21. A total of 335 oocytes from four euploid fetuses were analysed by immunofluorescence and fluorescence in-situ hybridization in order to assess the recombination nodules along chromosome 21. Results based on ...
Griffith Christopher B - - 2009
Trisomy 13 mosaicism occurs when two cell lines, one with a normal complement of chromosomes and the other with an additional chromosome 13, are present in the same individual. We present two children with trisomy 13 mosaicism and summarize the literature in 47 published cases. Our first patient is a ...
Quadrelli Roberto - - 2009
A balanced complex chromosome rearrangement (CCR) involving three chromosomes is rare and may lead to different types of aneuploid germ cells. We report here a 14-year follow-up of a boy with a karyotype defined as 46,XY,der(18)t(6;13;18)(q21;q21.32;q22.3).ish der(18)(13qter+,18qter-) characterized by multiple congenital abnormalities, including distinctive minor facial anomalies, short neck, abnormalities ...
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