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Rahmoun Massilva M Institut des Sciences de l'Evolution de Montpellier, Université Montpellier 2, CNRS, IRD, Montpellier, - - 2014
The African pygmy mouse Mus minutoides is characterized by the presence of a high proportion of fertile XY females in natural populations. This species displays 2 morphologically different X chromosomes: the ancestral X and a shorter one designated as X*, feminizing the X*Y individuals. This strongly suggests that in the ...
Veyrunes F F Institut des Sciences de l'Evolution de Montpellier, Université Montpellier 2, UMR CNRS 5554, Montpellier, France, - - 2014
The African pygmy mice (genus Mus, subgenus Nannomys) are recognized for their highly conserved morphology but extensive chromosomal diversity, particularly involving sex-autosome translocations, one of the rarest chromosomal rearrangements among mammals. It has been shown that in the absence of unambiguous diagnostic morphological traits, sex-autosome translocations offer accurate taxonomic markers. ...
Kling Daniel - - 2012
The present number of STR loci adopted in relationship testing is chiefly limited to unlinked markers, in most cases residing on different chromosomes. In order to solve more complex cases of relatedness, e.g. deficient paternities and disputed sibships, the number of core loci can be extended. The inclusion of multiple ...
Sembon Shoichiro - - 2011
The aim of the present study was to examine the feasibility of fluorescent in situ hybridization (FISH) for detecting a chromosome 1-specific sequence as a means of assessing the ploidy of porcine parthenotes. In vitro-matured oocytes with the first polar body (PB) were electrically activated; some were treated with cytochalasin ...
Krabchi K - - 2010
Hypogonadotrophic hypogonadism (HH) is characterized by deficient gonadotrophin secretion, resulting from pituitary or hypothalamic defects. In order to induce spermatogenesis, HH patients are treated with commercially available gonadotrophins. As far as is known, quality and genetic integrity of induced sperm cells have never been investigated, although they represent an important ...
Guilherme Roberta Santos - - 2010
We present a 20-year follow-up on a patient with a ring chromosome 14. The ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, and no deletions of chromosome 14 were detected, although the telomeric repeat sequence was absent from the ring ...
Conlin Laura K - - 2011
The ring chromosome 20 syndrome (R20) is a rare genetic disorder associated with a refractory electroclinical epilepsy syndrome and variably expressed comorbidities of intellectual disability and dysmorphism. To understand the structure and composition of the ring chromosome 20 (r(20)) in this patient cohort, blood specimens from 28 affected individuals were ...
Nik-Zainal Serena - - 2011
We report a 35-year-old male with a ring chromosome 12 originally diagnosed 20 years prior to presentation with an ischemic stroke. Array CGH analysis revealed a sub-microscopic microdeletion and microduplication within 12p13.3 and a microdeletion in 12q24.33. FISH analysis further revealed that the duplication was in an inverted orientation and ...
Del Sole A - - 2010
Several lines of evidence indicate that the dopaminergic system may play a role in the propagation of epileptic seizures and, indeed, DOPA metabolism impairment has recently been demonstrated in PET studies of ring chromosome 20 [r(20)] patients. We conducted a study looking for correlations between r(20) mosaicism, other clinical variables ...
Fujino Hisanori - - 2010
In some cases of childhood acute megakaryoblastic leukemia (AMKL), G-band analysis reveals supernumerary ring/marker chromosomes along with monosomy 7. However, their origin and relevance are poorly understood. We experienced three patients with AMKL, one of whom had Down's syndrome, whose blasts at the first visit exhibited both monosomy 7 and ...
Chen Chih-Ping - - 2010
To present the perinatal findings and molecular cytogenetic analysis of a rare chromosomal abnormality involving structural and numerical abnormalities of chromosome 18. A 36-year-old woman, gravida 5, para 3, underwent amniocentesis because of her advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,r(18) [27]/45,XY,-18[5]/46,XY[5]. The parents decided to continue the ...
Baker Peter R - - 2010
Supernumerary, derivative, and ring X chromosomes are relatively common in Turner syndrome females but have been reported rarely in males. To date, less than 10 cases have been published, of which only 2 have been partially characterized in defining the breakpoints and genetic content of the derivative X chromosome. We ...
Carella Massimo - - 2010
We report on a boy with three cell lines: 46,XY, r(11)(p15.5,q25)[90]/45,XY,-11 [8]/47,XY, r(11)(p15.5,q25)x2[2], with minor anomalies and mental retardation who developed asynchronous bilateral Wilms tumors (WTs). Array comparative genomic hybridization (CGH) performed on peripheral blood leukocytes of the patient led to the identification of a constitutional duplication of 4.8 Mb ...
Del Sole A - - 2010
AIM: Several lines of evidence indicate that the dopaminergic system may play a role in the propagation of epileptic seizures and, indeed, DOPA metabolism impairment has recently been demonstrated in PET studies of ring chromosome 20 [r(20)] patients. We conducted a study looking for correlations between r(20) mosaicism, other clinical ...
Bartuma Hammurabi - - 2010
Low-grade fibromyxoid sarcoma (LGFMS) is a rare, low-grade malignant soft tissue tumor that is often mistaken for either benign or more malignant tumor types. Commonly, this tumor affects young adults and typically arises in the deep proximal extremities or trunk with frequent recurrences and can metastasize to the lungs many ...
Demirhan Osman - - 2010
Ring chromosome 22, a rare cytogenetic anomaly, has been described in over 60 cases in the medical literature. The aim of this report was to present a case carrying ring chromosome 22, and her family.It is a case report of a patient presented at Medical Faculty of Çukurova University in ...
Ono Takashi - - 2010
The aim of this study was to report the case of a Japanese subject with ring chromosome 18 syndrome. A cephalometric analysis was performed, and the treatment procedure is described. Lateral and posteroanterior cephalograms were compared with Japanese norms. Dental anomalies were evaluated by a model analysis. The outcome of ...
Guediche N - - 2010
The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the ...
Rebagliati P J - - 2010
Acledra comprises 15 taxonomically identified species, most of which are crop pests. This is the first cytogenetic study of species of this genus. Acledra kinbergii and A. modesta showed the modal number of the Pentatomidae (2n = 14 = 12 + XY), while A. bonariensis had a reduced complement (2n ...
Sivendran Shanthi - - 2010
The ring chromosome is a circular, structural abnormality composed of either multiple chromosomes or a single chromosome with loss of genetic material at one or both ends. This chromosomal rearrangement is often unstable with frequent recombinations and may be accompanied by either loss or amplification of genetic material[1]. Considering that ...
Sodr? C P - - 2010
Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48- and 72-h lymphocyte cultures ...
Ahzad Hadi Ahmad - - 2010
Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism ...
van der Veken Lars T - - 2010
Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities might reveal cytogenetic abnormalities of an unexpected complexity. We report ...
Giardino Daniela - - 2010
Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. The pathogenic mechanism underlying seizures disorders in r(20) syndrome is still unknown. We performed ...
Trombetta Domenico - - 2009
Ring chromosomes are cytogenetic hallmarks of genomic amplification in several bone and soft tissue tumors, in particular atypical lipomatous tumors (ALT). In ALT, the ring chromosomes invariably contain amplified material from the central part of the long arm of chromosome 12, mainly 12q12-->15, but often also segments from other chromosomes ...
Koç Altu─č - - 2009
We report a rare case of mosaic ring chromosome 22 duplication/deletion in a fetus for whom karyotype analysis was required because of an abnormal finding in the maternal serum screening test and a choroid plexus cyst detected on prenatal ultrasound. Additional prenatal study of the amniotic fluid by fluorescence in ...
Luan L - - 2009
We studied pollen fertility, seed set and cytogenetic characteristics of restorer lines and F1 hybrids of autotetraploid rice. T4002, T4063, T461A x T4002 and T461A x T4063 showed significantly higher pollen fertility and seed set than T4132 and T461A x T4132. Meiotic pairing configurations of T4002, T4063, T4132, T461A x ...
Surace C - - 2009
Ring 17 syndrome is a rare disorder with clinical features influenced by the presence or deletion of the Miller-Dieker critical region (MDCR). Presence of the MDCR is associated with a mild phenotype, including growth delay (GD), mental retardation (MR), seizures, caf?? au lait skin (CALS) spots and minor facial dysmorphisms. ...
Zollino Marcella - - 2009
The ring 14 (r14) syndrome is a rare condition, whose precise clinical and genetic characterization is still lacking. We analyzed a total of 20 patients with r14 and another 9 patients with a linear 14q deletion. The ring was complete, with no apparent loss of chromosome material, in 6 cases; ...
Ville Dorothée - - 2009
We report four infants (two males, two females) with ring 14 chromosome presenting with early-onset partial epilepsy. The first seizure occurred between 3 and 6 months (3, 3, 4, and 6mo respectively). In all four cases, diagnosis was based on early focal seizures, rather than on psychomotor retardation or morphological ...
Yantiss Rhonda K - - 2009
Appendiceal mucinous neoplasms confined to the mucosa are benign, whereas those with disseminated peritoneal mucin deposits often follow an indolent, but malignant, course. Not infrequently, appendiceal mucinous neoplasms are associated with localized periappendiceal mucin deposits, but lack diffuse peritoneal involvement. Mucin deposits in these cases may be acellular or contain ...
Kosztolányi György - - 2009
Constitutional ring chromosomes are generally believed to be the result of de novo breakage of both end-segments of a chromosome during meiosis or early postzygotic mitosis, with the ends joining to give a continuous ring. This mechanism presumes the loss of some genetic material during ring formation. Ring chromosomes thus ...
Gunnarsson Cecilia - - 2009
Ring chromosome 10 is a rare cytogenetic finding. Of the less than 10 reported cases we have found in the literature, none was characterized using high-resolution microarray analysis. Ring chromosomes are frequently unstable due to sister chromatid exchanges and mitotic failures. When mosaicism is present, the interpretation of genotype-phenotype correlations ...
Denayer Ellen - - 2009
BACKGROUND: Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22. The pathogenesis of these tumours is not always clear yet. METHODS: We report on a female ...
Lopez-Valdes J A - - 2009
Ring chromosomes are present in 1 in 25,000 human fetuses; 99% arise de novo while less than 1% of rings are inherited. This chromosomal rearrangement may arise through a cytogenetic mechanism involving breaks in chromosome arms and fusion of the proximal broken ends, leading to a loss of distal material. ...
Pruss Cynthia M - - 2008
The multimeric plasma protein von Willebrand factor (VWF) is regulated in size by its protease, ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motif, member 13). Y1605-M1606 cleavage site mutations and single nucleotide polymorphisms (SNPs) in the VWF A1 and A2 domains were examined for alteration in ADAMTS13-mediated cleavage ...
Rodríguez L - - 2008
A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a correlation ...
Boisvert Catherine A - - 2008
One of the identifying characteristics of tetrapods (limbed vertebrates) is the presence of fingers and toes. Whereas the proximal part of the tetrapod limb skeleton can easily be homologized with the paired fin skeletons of sarcopterygian (lobe-finned) fish, there has been much debate about the origin of digits. Early hypotheses ...
Qiu Wenjie - - 2008
Septins are a family of GTP-binding proteins whose heterooligomeric complex is the basic structural element of the septin filaments found in many eukaryotic organisms. In budding yeast, septins are mainly confined at the mother-daughter junction and are required for cell morphogenesis and division. Septins undergo assembly and disassembly in accordance ...
Kim Ji Hyun - - 2008
BACKGROUND/AIMS: Important lesions related to gastroesophageal reflux disease (GERD) are located around the gastroesophageal junction (GEJ). This study examined the distribution of endoscopic findings around the GEJ and elucidated their relationship to each other and esophageal manometric features. METHODS: Endoscopic data were collected prospectively from 2,450 consecutive diagnostic upper gastrointestinal ...
Mello Abbey L - - 2008
We report on a 20-month-old male, diagnosed prenatally with de novo mosaic ring chromosome 18 and low level monosomy 18, who also exhibited an inherited and apparently balanced translocation between chromosomes 3 and 6. We believe this to be the first reported case of prenatally diagnosed mosaic ring chromosome 18 ...
Saggese Miguel D - - 2008
Prevalence of infection and disease, the degree of organ involvement and the nature of the lesions were investigated in 11 white and 18 non-white ring-neck doves coming from a flock naturally infected with Mycobacterium avium subsp. avium. Lesions were common in the liver, spleen, lung, kidney, intestines, ovary and bone ...
Kara Nurten - - 2008
Ring chromosomes are rare chromosome disorders that arise usually de novo. Children with ring chromosome 6 have a wide range of intellectual functioning and congenital anomalies. We report an epileptic case of a 10-year-old boy to be mild psychomotor retardation and dysmorphic traits including microcephaly, brachycephaly, flat occiput, large and ...
Bertini Veronica - - 2008
OBJECTIVE: To characterize a ring chromosome 21 found in an infertile woman and in her mother. DESIGN: Case report. SETTING: Molecular and cytogenetics unit in a university-affiliated hospital. PATIENT(S): A 32-year-old infertile woman, presenting a normal female phenotype without clinical signs or major dysmorphisms. INTERVENTION(S): Molecular cytogenetic analyses and genetic ...
Castermans Dries - - 2008
We describe an individual with autism and a coloboma of the eye carrying a mosaicism for a ring chromosome consisting of an inverted duplication of proximal chromosome 14. Of interest, the ring formation was associated with silencing of the amisyn gene present in two copies on the ring chromosome and ...
Höckner Martina M Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, - - 2008
The phenotype of patients with a ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. Size and structure of the ring chromosome as well as the level of mosaicism are important factors for the clinical phenotype. Here, we report on a 25-year-old ...
Patel Chinmay C Main Line Health Heart Center, Wynnewood, PA, - - 2008
Inherited channelopathies have received increasing attention in recent years. The past decade has witnessed impressive progress in our understanding of the molecular and cellular basis of arrhythmogenesis associated with inherited channelopathies. An imbalance in ionic forces induced by these channelopathies affects the duration of ventricular repolarization and amplifies the intrinsic ...
Adam Margaret P - - 2008
We report on an Ethiopian female with generalized overgrowth of postnatal onset accompanied by progressive and symmetric overgrowth of skeletal and soft tissues. Her phenotype consisted of progressive and symmetric overgrowth of the supraorbital ridges, glabella, occiput, cervical spine, and distal phalanges of all extremities, but particularly the 3rd and ...
Kaur Anupam - - 2008
BACKGROUND: Ring chromosome 7 [r(7)] is a rare cytogenetic aberration, with only 16 cases (including 3 females) reported in the literature to date. This is the first reported case of r(7) from India. METHOD: Clinical and cytogenetic investigations were carried out in an adult female with microcephaly and intellectual disability. ...
Impera Luciana - - 2008
Two cases of therapy-related acute myeloid leukemia showed complex karyotypes, including a small ring and a larger D-chromosome. Multicolor fluorescence in situ hybridization and bacterial artificial chromosome and fosmid clones showed that both ring chromosomes were composed entirely of material excised from chromosome 12. The deleted segment of 12 was ...
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