289 research outputs found
A report of a patient with duplication of 7p13 -> pter and deletion of 2p23 -> pter due to a maternal 2p;7p translocation
No full textWe report a patient with severe developmental delay, failure to thrive, microbrachycephaly, large anterior fontanel, ocular hypertelorism, broad nasal bridge, low-set ears, long philtrum, micrognathia, partial cleft palate, broad distal digits, abnormal palmar creases, joint contractures, and cardiovascular anomaly. Cytogenetic analysis with high resolution chromosome banding showed an unbalanced karyotype of 46,X-X, der(2)t(2;7)(p23;p13) originating from a maternal balanced translocation. Our patient showed a duplication of 7p13 -> pter and a deletion of 2p23 -> pter. Our analysis suggests that duplication 7p is associated with a recognizable characteristic phenotype
Trisomy 9 (pter → q1 to q3): the phenotype as an objective aid to karyotypic interpretation
No full textThe phenotypic findings of three patients whose karyotypic interpretations were uncertain were compared to patients with trisomy 9 (pter → ql to q3). One with an extra, small acrocentric chromosome and another with a trisomy due to an inherited C/G translocation have a phenotype compatible with the trisomy 9 (pter → ql) syndrome. In a third patient reported with 47, XY, ?16+, the trisomy 9p probably extends past the ql region
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter
No full textThe aim of this study was to obtain a quantitative definition of Wolf-Hirschhorn syndrome (WHS) through systematic phenotypic analyses in a group of six children with 4p15.32 → pter, 4p15.33 → pter, or 4p16.1 → pter monosomy (considered together as M4p16.1). These results were used for evaluation of the phenotypic effects of a double chromosome imbalance in one child with 4p16.1 → pter monosomy and additional 11q23.3 → qter trisomy. Children with pure M4p16.1 presented with a total of 227 clinical and morphological traits, of which 119 were positive in at least two of them. These traits overlap to a great extent with clinical criteria defining the WHS phenotype. Among the 103 traits identified in the child with unbalanced translocation der(4)t(4;11)(p16.1;q23.3), most clinical and developmental traits (but only 11 morphological) were found to be shared by WHS children with pure M4p16.1 and at least one reported patient with pure 11q trisomy. Forty-six traits of this child corresponded solely to those identified in at least one child with pure M4p16.1. Only five traits of the hybrid phenotype were present in at least one child with pure distal 11q trisomy but in none of the present children with pure M4p16.1. In conclusion, most of the morphological traits of the hybrid phenotype in the child with der(4)t(4;11)(p16.1;q23.3) can be attributed to the M4p16.1, whereas their overlap with those associated with pure distal 11q trisomy is less evident. Phenotype analyses based on the same systematic data acquisition may be useful in understanding the phenotypic effects of different chromosome regions in complex rearrangements. © 2011 Wiley-Liss, Inc
Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)
No full textWe report on an 8-month-old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydro-nephrosis. High-resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11) (pter;pter). Both FISH and microarray CGH studies clearly demonstrated that the WHS critical regions 1 and 2 were deleted, and that the BWS imprinted domains (ID) 1 and 2 were duplicated on the der(4). Parental chromosome analysis revealed that the father carried a cryptic balanced t(4;11)(pter;pter). As expected, our patient manifests findings of both WHS (a growth retardation syndrome) and BWS (an overgrowth syndrome). We compare her unique phenotypic features with those that have been reported for both syndromes.</p
Time-dependent density functional theory for periodic systems
No full textIn this thesis the time-dependent version of density functional theory is described, which has been developed for crystalline non-metallic systems with periodicity in one to three dimensions. The application of this theory to the calculation of the optical reponse properties of a wide range of materials proved to be very successful. ...
Zie: Summary
Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter)
No full textWe report on the unusual cytogenetic findings in a girl with moderate mental retardation and a mosaic karyotype 46,XX,del(4)(p16)/46,XX,der(4)(qter-q31.3::pter-qter). The facial features observed in the child initially did not suggest the diagnosis of Wolf-Hirschhorn syndrome (WHS), but the distinct facial gestalt became obvious at prepubertal age. Fluorescence in situ hybridization (FISH) analysis with different probes that map to 4p and 4q helped to clarify the karyotype. We discuss the mechanism of appearance of this unusual type of mosaicism, which has not been reported before.Am J Med Gene
Histiopteris J. Sm., Hist. Fil.
No full text30.6. Histiopteris (J.Agardh) J.Sm., Hist. Fil. 294 (1875). Pteris sect. Histiopteris J.Agardh, Recens. Spec. Pter. 76 (1839). T.: Histiopteris vespertilionis (Labill.) J.Sm. (Pteris vespertilionis Labill.)Published as part of Christenhusz, Maarten J. M., Zhang, Xian-Chun & Schneider, Harald, 2011, A linear sequence of extant families and genera of lycophytes and ferns, pp. 7-54 in Phytotaxa 19 on page 45, DOI: 10.11646/phytotaxa.19.1.2, http://zenodo.org/record/489399
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter
No full textNo description availabl
First access to the spin-labelled beta-amino acid POAC in an enantiopure state by resolution through its binaphthyl esters
No full textResolution of trans 3-(9-fluorenylmethyloxycarbonylamino)-1-oxyl-2,2,5,5-tetramethylpyrrolidine-4-carboxylic acid (Fmoc-POAC-OH) was quickly achieved upon esterification with (aR)-1,1'-binaphthyl-2,2'-diol, chromatographic separation of the obtained diastereomers, and facile saponification of the aryl ester function with removal of the chiral auxiliary
Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter
No full textSummaryPrimary (or “true”) microcephaly is inherited as an autosomal recessive trait and is thought to be genetically heterogeneous. Using autozygosity mapping, we have identified a genetic locus (MCPH1) for primary microcephaly, at chromosome 8p22-pter, in two consanguineous families of Pakistani origin. Our results indicate that the gene lies within a 13-cM region between the markers D8S1824 and D8S1825 (maximum multipoint LOD score of 8.1 at D8S277). In addition, we have demonstrated the genetic heterogeneity of this condition by analyzing a total of nine consanguineous families with primary microcephaly
- …
