bluuebunny/crossref_metadata_2025_split huggingface dataset:
Behavioral management of a long‐term survivor with tetrasomy 18p
Authors: Swingle Hanes M. , Ringdahl Joel , Mraz Royann , Patil Shivanand , Keppler‐Noreuil Kim 
Published: January 2006

AbstractWe report on a 41‐year‐old male with dysmorphic features, marked obesity, profound mental retardation, and aggressive behavior who was recently diagnosed with tetrasomy of the short arm of chromosome 18, [47, XY, i(18)(p10)]. His initial diagnosis, based upon chromosomal analysis at 6 years of age in 1969, was “trisomy F syndrome.” Approximately 60 cases of tetrasomy 18p are reported in the literature, with little information regarding their long‐term behavioral profiles or outcomes from therapy. We describe the behavioral management as well as the medical and genetic evaluation for this older patient with tetrasomy. With improved preventive care and intervention, patients with rare chromosomal abnormalities are living longer and, therefore, provide insight into the natural history of their disorders. Efforts need to be directed toward behavior management, social skills training, and augmentation of communication if the quality of life of these individuals is to continue to improve. © 2006 Wiley‐Liss, Inc.
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation
Authors: Terhal Paulien , Rösler Bernd , Kohlhase Jürgen 
Published: January 2006

AbstractThe SALL4 gene encodes a putative zinc finger transcription factor and is located on chromosome 20q13.13‐13.2. Mutations in SALL4 have been identified in patients with Okihiro syndrome, which is characterized by radial ray anomalies associated with a Duane anomaly. Here, we report an unusual family in which affected persons show an extremely variable phenotype consistent with either Okihiro syndrome, hemifacial microsomia, or isolated Duane anomaly. A novel nonsense mutation in the SALL4 gene was detected in all affected family members and obligate carriers. This mutation is located in exon 3, only 29 bp 5′ of the most 3′ intron, and would therefore be expected to escape the nonsense mediated mRNA decay pathway, which might explain the phenotypic variablity and mild degree of limb involvement. © 2006 Wiley‐Liss, Inc.
Shprintzen–Goldberg omphalocele syndrome: A new patient with an expanded phenotype
Authors: Zelante Leopoldo , Germano Michele , Sacco Michele , Calvano Savino 
Published: January 2006

AbstractShprintzen and Goldberg [1979] described a new autosomal dominant syndrome characterized by omphalocele, scoliosis, pharyngeal and laryngeal hypoplasia, mild dysmorphic face, and learning disabilities. This condition was described in a father and three daughters, one of whom died in infancy, probably of airway narrowing. Here, we report on a second observation of this syndrome in a 6‐year‐old patient. In our case, omphalocele, imperforate anus, and feeding impairment were the main clinical problems in the neonatal period. Scoliosis appeared during the fourth year of age. The facial appearance is similar to the original patients and additional clinical findings are described which expand the phenotypic spectrum. © 2006 Wiley‐Liss, Inc.
Monoallelic BUB1B mutations and defective mitotic‐spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome
Authors: Matsuura Shinya , Matsumoto Yoshiyuki , Morishima Ken‐ichi , Izumi Hideki , Matsumoto Hiroshi , Ito Emi , Tsutsui Keisuke , Kobayashi Junya , Tauchi Hiroshi , Kajiwara Yoshinori , Hama Seiji , Kurisu Kaoru , Tahara Hidetoshi , Oshimura Mitsuo , Komatsu Kenshi , Ikeuchi Tatsuro , Kajii Tadashi 
Published: January 2006

AbstractCancer‐prone syndrome of premature chromatid separation (PCS syndrome) with mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by growth retardation, microcephaly, childhood cancer, premature chromatid separation of all chromosomes, and mosaicism for various trisomies and monosomies. Biallelic BUB1B mutations were recently reported in five of eight families with MVA syndrome (probably identical to the PCS syndrome). We here describe molecular analysis of BUB1B (encoding BubR1) in seven Japanese families with the PCS syndrome. Monoallelic BUB1B mutations were found in all seven families studied: a single‐base deletion (1833delT) in four families; and a splice site mutation, a nonsense mutation, and a missense mutation in one family each. Transcripts derived from the patients with the 1833delT mutation and the splice site mutation were significantly reduced, probably due to nonsense‐mediated mRNA decay. No mutation was found in the second alleles in the seven families studied, but RT‐PCR of BUB1B and Western blot analysis of BubR1 indicated a modest decrease of their transcripts. BubR1 in the cells from two patients showed both reduced protein expression and diminished kinetochore localization. Their expression level of p55cdc, a specific activator of anaphase‐promoting complex, was normal but its kinetochore association was abolished. Microcell‐mediated transfer of chromosome 15 (containing BUB1B) into the cells restored normal BubR1 levels, kinetochore localization of p55cdc, and the normal responses to colcemid treatment. These findings indicate the involvement of BubR1 in p55cdc‐mediated mitotic checkpoint signaling, and suggest that >50% decrease in expression (or activity) of BubR1 is involved in the PCS syndrome. © 2006 Wiley‐Liss, Inc.
Yellow teeth, seizures, and mental retardation: A less severe case of Kohlschütter–Tönz syndrome
Authors: Haberlandt Edda , Svejda Christine , Felber Stefan , Baumgartner Sara , Günther Barbara , Utermann Gerd , Kotzot Dieter 
Published: January 2006

AbstractWe describe an 11‐year‐old boy with hypoplastic amelogenesis imperfecta, yellow teeth, seizures, and developmental delay, which are the hallmarks of Kohlschütter–Tönz syndrome. Compared to other reported cases of the syndrome, our patient had less severe developmental delay. Also, spasticity and loss of mental capacity should not be considered obligatory manifestations of the syndrome because they are not present in half of reported patients, as well as in our family. Origin of the parents of our patient from neighboring villages supports autosomal recessive inheritance of Kohlschütter–Tönz syndrome. © 2006 Wiley‐Liss, Inc.
Two cases of partial trisomy 21 (pter‐q22.1) without the major features of Down syndrome
Authors: Kondo Yoko , Mizuno Seiji , Ohara Kei , Nakamura Takeshi , Yamada Kenichiro , Yamamori Shunji , Hayakawa Chiemi , Ishii Takashi , Yamada Yasukazu , Wakamatsu Nobuaki 
Published: January 2006

AbstractWe report two cases of partial trisomy 21 with clinical features distinct from Down syndrome (DS). These patients presented with moderate mental retardation and short stature, but the typical facial appearance of DS was not observed. Each patient had a similarly sized extra chromosome 21. We performed FISH analysis to examine whether deletions of reported ∼5 Mb DS critical region (DSCR) might be associated with unusual clinical features in these cases. The results showed that each of their extra chromosomes 21 contained a distal part of chromosome 3p or 14q at the telomeric region of chromosome 21q. The translocation breakpoint of 21q for each patient was located on the centromeric side of DSCR (DSCR was deleted) and the sizes of partial trisomy 21 in respective patients are ∼34.5 (21pter‐q22.12) and ∼33.0 Mb (21pter‐q22.11). In one patient, the additional region of the short arm of chromosome 3 was 3pter‐p26.1 from maternal origin, measuring approximately 9 Mb in size. The second patient had an extra 14q32.1‐qter of maternal origin, measuring approximately 14 Mb in size. These are one of the shortest partial distal trisomy among reported cases. Taken together, two patients with partial trisomy 21 lack all of DSCR on 21q22, and their distinct clinical features are likely caused by the genes located at 21pter‐q22.1 and the distal part of chromosome 3p or 14q. © 2006 Wiley‐Liss, Inc.
Characterization of mosaic supernumerary ring chromosomes by array‐CGH: Segmental aneusomy for proximal 4q in a child with tall stature and obesity
Authors: Bonnet Céline , Zix Christian , Grégoire Marie‐José , Brochet Karène , Duc Mireille , Rousselet Florence , Philippe Christophe , Jonveaux Philippe 
Published: January 2006

AbstractWe report on a 6‐year‐old girl with developmental delay, tall stature, and obesity. G‐banded chromosome analysis revealed mosaicism for one to three small de novo rings in 82% of peripheral lymphocytes. Fluorescence in situ hybridization (FISH) studies and metaphase comparative genomic hybridization (CGH) demonstrated that the rings were derived from 4q10‐4q13. A higher resolution investigation was initiated using array‐CGH analysis and revealed a gain of 11 adjacent clones spanning a 16 Mb region at 4q11‐q13.2 and including the insulin‐like growth factor binding protein 7 (IGFBP7) gene. This finding suggests that postnatal overgrowth observed in our patient might be related to a dosage effect of the IGFBP7 gene. © 2006 Wiley‐Liss, Inc.
A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3‐p11.2
Authors: Liang Desheng , Wu Lingqian , Pan Qian , Harada Naoki , Long Zhigao , Xia Kun , Yoshiura Koh‐ichiro , Dai Heping , Niikawa Norio , Cai Fang , Xia Jiahui 
Published: January 2006

AbstractA male patient with mental retardation (MR) and mild facial features was shown by high‐resolution G‐banding to have pericentric inversion of chromosome 12 with an unknown segment inserted into the long arm of the inverted chromosome [46,XY,inv(12)(pter → p11.2::q14.1 → p11.2::?::q14.1 → qter)]. Both the inverted chromosome 12 and clinical manifestations were transmitted to his son. Karyotypes of the propositus' parents were normal. Studies with fluorescence in situ hybridization (FISH) in both the propositus and his son revealed that the extra segment was derived from 12p. Further FISH mapping and the genome‐wide copy number detection by GeneChip Mapping 100K Array showed that an 11‐Mb segment of 12p between two BAC clones, RP11‐22H10 and RP11‐977P2, was inserted at one of the reunion points in the long arm of the inv(12) chromosome. Analysis of parent–child transmissions of duplicated alleles using microsatellite markers defined the maternal origin of the chromosomal anomaly in the propositus and suggested a mechanism of its formation through a sister‐chromatid rearrangement (SCR), that is, mismatched pairing and unequal crossover between sister chromatids as well as three break rearrangements including a U type rearrangement. Karyotypes of the propositus and his son were thus inv(12)(pter → p11.22::q14.1 → p12.3::q14.1 → qter). This is the first report of “pure” proximal 12p‐trisomy including p12.3–p11.22 region. © 2006 Wiley‐Liss, Inc.
Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa
Authors: Midro Alina T. , Wiland Ewa , Panasiuk Barbara , Leśniewicz Ryszard , Kurpisz Maciej 
Published: January 2006

AbstractWe performed the segregation analysis of a relatively large pedigree of t(7;13)(q34;q13) carriers together with the sperm karyotype analysis of the one carrier using a tri‐color fluorescence in situ hybridization (FISH) method. The risk assessments for unfavorable pregnancy outcomes in a series of 36 pregnancies in eight reciprocal chromosome translocation (RCT) couples of carriers were estimated directly from a pedigree after ascertainment correction. The individual probability rate for unbalanced child was predicted according to Stengel‐Rutkowski and co‐workers. The unbalanced karyotypes in the form of monosomy 7q34 → qter and trisomy 13q13 → qter were detected among stillborn/early death newborns with holoprosencephaly (HPE), cyclopia and other malformations. Based on clinical description of unkaryotyped stillbirth progeny, it can be assumed that the phenotype distinctions were connected with the unbalanced karyotype from 2:2 segregation (monosomy 7q with trisomy 13q) and 3:1 segregation as interchange trisomy 13 (Patau syndrome). Probability rates for miscarriages, stillbirth/early death were 12.9 ± 6% (4/31) and 29 ± 8.2% (9/31), respectively. The results of the meiotic segregation pattern indicated the rate of unbalanced spermatozoa for about 60%, with the unusual high rate (29.4%) of 3:1 segregant (i.e., 13.4% of the tertiary segregation and 16% of the interchange segregation). Adjacent‐1 segregation followed with 23.5% and adjacent‐2 followed with 7.2% of analyzed spermatozoa. The high rate of unbalanced gametes in comparison to the number of stillborn/early death and miscarriages detected in pedigree suggests a strong selection against unbalanced chromosomal constitutions during fetal development. It corresponds to a very small probability rate (about 0.3%) of viable unbalanced progeny from 3:1 meiotic segregation predicted for maternal carriers. This knowledge can be used in genetic counseling of families with similar RCT ascertained in a different way. © 2006 Wiley‐Liss, Inc.
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele
Authors: Rump P. , Letteboer T.G.W. , Gille J.J.P. , Torringa M.J.L. , Baerts W. , van Gestel J.P.J. , Verheij J.B.G.M. , van Essen A.J. 
Published: January 2006

AbstractWe describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth factor receptor type 3 (FGFR3) gene in this patient showed the common p.G380R mutation and a second novel p.L377R mutation. An allele‐specific PCR demonstrated that these mutations were on the same allele (cis). Both mutations were not present in the parents and appear to have occurred de novo. To our knowledge, this is the first report in the literature on an achondroplasia patient with two FGFR3 mutations on the same allele. © 2006 Wiley‐Liss, Inc.
High heritability of fingertip arch patterns in twin‐pairs
Authors: Reed Terry , Viken Richard J. , Rinehart Shannon A. 
Published: January 2006

AbstractThe presence of an arch pattern on at least one fingertip has previously been suggested as an autosomal dominant trait with reduced penetrance, although the examination of pedigrees with this trait segregating is also consistent with major gene or multifactorial inheritance. We utilized fingerprints in 2,484 twin‐pairs to estimate heritability for the presence of at least one fingertip arch pattern. The frequency of arches in the entire sample was 4.3% (2,175/50,850), 5.5% in females and 3.2% in males. There were 267 twin‐pairs concordant for the presence of an arch on any finger. Structural equation modeling was performed to contingency table data for five groups (MZ male, MZ female, DZ male, DZ female, and unlike‐sexed DZ). The best fitting model, which allowed for the prevalence of arches to differ between males and females, had a heritability of 91%. There was some evidence for small dominant genetic effects in females and shared environmental effects in males, although both were not significant. With such high heritability, the search for specific genes influencing the occurrence of fingertip arch patterns is justified. © 2006 Wiley‐Liss, Inc.
Effects of reactive low‐profile additives on the volume shrinkage and internal pigmentability for low‐temperature cure of unsaturated polyester
Authors: Dong Jyh‐Ping , Chiu Sheng‐Guey , Hsu Mann‐Wen , Huang Yan‐Jyi 
Published: January 2006

AbstractThe effects of reactive poly(vinyl acetate)‐block‐poly(methyl methacrylate) (PVAc‐b‐PMMA) and poly(vinyl acetate)‐block‐polystyrene (PVAc‐b‐PS) as low‐profile additives (LPA) on the volume shrinkage characteristics and internal pigmentability for low‐shrink unsaturated polyester resins (UP) during the cure at 30°C were investigated. These reactive LPAs, which contained peroxide linkages in their backbones, were synthesized by suspension polymerizations, using polymeric peroxides (PPO) as initiators. Depending on the LPA composition and molecular weight, the reactive LPA could lead to a reduction of cyclization reaction for UP resin during the cure, and would be favorable for the decrease of intrinsic polymerization shrinkage after the cure. The experimental results have been explained by an integrated approach of measurements for the static phase characteristics of the styrene (ST)/UP/LPA system, reaction kinetics, cured sample morphology, and microvoid formation by using differential scanning calorimetry (DSC), scanning electron microscopy (SEM), optical microscopy (OM), and image analysis. Based on the Takayanagi mechanical model, factors leading to both a good volume shrinkage control and acceptable internal pigmentability for the molded parts have been explored. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 967–979, 2006
Miscibility and crystallization behavior of poly(3‐hydroxybutyrate‐co‐3‐hydroxyvalerate)/poly(vinyl acetate) blends
Authors: Chiu Hsiu‐Jung 
Published: January 2006

AbstractThe miscibility and crystallization behavior of poly(3‐hydroxybutyrate‐co‐3‐hydroxyvalerate) (P(HB‐co‐HV))/poly(vinyl acetate) (PVAc) blends have been investigated by differential scanning calorimetry (DSC) and polarized optical microscopy (POM). It was found that P(HB‐co‐HV)/PVAc blends were miscible in the melt over the whole compositions. Thus the blend exhibited a single glass transition temperature (Tg), which increased with increasing PVAc composition. The spherulitic morphologies of P(HB‐co‐HV)/PVAc blends indicated that the PVAc was predominantly segregated into P(HB‐co‐HV) interlamellar or interfibrillar regions during P(HB‐co‐HV) crystallization because of the volume‐filled spherulites. As to the crystallization kinetics study, it was found that the overall crystallization and crystal growth rates decreased with the addition of PVAc. The kinetics retardation was primarily attributed to the reduction of chain mobility and dilution of P(HB‐co‐HV) upon mixing with higher Tg PVAc. The overall crystallization rate was predominantly governed by the spherulitic growth rate and promoted by the samples treated with the quenched state because of the higher nucleation density. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 980–988, 2006
Microstructure and mechanical behavior of polyamide 66‐precipitated calcium carbonate composites: Influence of the particle surface treatment
Authors: Cayer‐Barrioz J. , Ferry L. , Frihi D. , Cavalier K. , Séguéla R. , Vigier G. 
Published: January 2006

AbstractThe effects of interfacial adhesion strength on the mechanical behavior of composites of polyamide 66 and precipitated calcium carbonate (CaCO3) particles have been investigated. The 50 nm average diameter particles have been surface‐treated using two kinds of coupling agent having various affinities with respect to the matrix. The surface‐modified particles have been incorporated into the polyamide matrix via melt processing. Tensile and impact tests, associated with dynamical mechanical analysis, have been performed on injection‐molded samples. The structural characterization of the specimens has been carried out using differential scanning calorimetry and wide‐angle X‐ray scattering. It is observed that the matrix structure is roughly insensitive to the surface treatment, despite a weak nucleating effect of the filler particles. In contrast, the particle surface treatment strongly influences the particle dispersion in the polymer matrix. Although dispersion was not optimized, the elastic properties of the reinforced polyamide increase with the CaCO3 content, below as well as above the glass transition temperature. Impact toughness decreases for CaCO3 weight fraction greater than 5%. Scanning electron microscopy investigation reveals that the interfacial adhesion affects local deformation processes, such as debonding and fibrillation of the polymer matrix around the particles, during the macroscopic deformation of the composites. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 989–999, 2006
Solid polymer electrolytes. XI. Preparation, characterization and ionic conductivity of new plasticized polymer electrolytes based on chemical‐covalent polyether–siloxane hybrids
Authors: Liang Wuu‐Jyh , Chen Ying‐Pin , Wu Chien‐Pang , Kuo Ping‐Lin 
Published: January 2006

AbstractA new hybrid polymer electrolyte system based on chemical‐covalent polyether and siloxane phases is designed and prepared via the sol–gel approach and epoxide crosslinking. FT‐IR, 13C solid‐state NMR, and thermal analysis (differential scanning calorimetry (DSC) and TGA) are used to characterize the structure of these hybrids. These hybrid films are immersed into the liquid electrolyte (1M LiClO4/propylene carbonate) to form plasticized polymer electrolytes. The effects of hybrid composition, liquid electrolyte content, and temperature on the ionic conductivity of hybrid electrolytes are investigated and discussed. DSC traces demonstrate the presence of two second‐order transitions for all the samples and show a significant change in the thermal events with the amount of absorbed LiClO4/PC content. TGA results indicate these hybrid networks with excellent thermal stability. The EDS‐0.5 sample with a 75 wt % liquid electrolyte exhibits the ionic conductivity of 5.3 × 10−3 S cm−1 at 95°C and 1.4 × 10−3 S cm−1 at 15°C, in which the film shows homogenous and good mechanical strength as well as good chemical stability. In the plot of ionic conductivity and composition for these hybrids containing 45 wt % liquid electrolyte, the conductivity shows a maximum value corresponding to the sample with the weight ratio of GPTMS/PEGDE of 0.1. These obtained results are correlated and used to interpret the ion conduction behavior within the hybrid networks. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 1000–1007, 2006
Development of acrylonitrile‐butadiene (NBR)/polyamide thermoplastic elastomeric compositions: Effect of carboxylation in the NBR phase
Authors: Chowdhury R. , Banerji M. S. , Shivakumar K. 
Published: January 2006

AbstractThe current investigation was aimed at assessing the effect of carboxylation of NBR phase in dynamically vulcanized NBR/low‐melting polyamide thermoplastic elastomeric compositions. Improved strength and set properties were achieved because of better compatibilization with carboxylated NBRs. The dispersion of the rubber became homogeneous and finer with increase in the degree of carboxylation. Glass transition studies by DMA and DSC suggested the presence of a compatibilizing block copolymer generated in situ by the reaction between the COOH groups in the rubber and the NH2 groups in the polyamide during melt‐mixing. The reaction was studied for a representative 60 : 40 rubber/plastic blend by DSC. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 1008–1012, 2006
Water‐assisted formation of honeycomb films of poly(L‐lactic‐co‐glycolic acid)
Authors: Tian Ye , Ding Huaiyu , Shi Yanqiao , Jiao Qingze , Wang Xiaolin 
Published: January 2006

AbstractThe ordered honeycomb structures of poly(L‐lactic‐co‐glycolic acid) and poly(D,L‐lactic‐co‐glycolic acid) fabricated in a humid atmosphere were reported in this paper. It was found that surfactants were important in the formation of honeycomb films of hydrophobic polymer. The affecting factors, such as the environment temperature, the atmosphere humidity, and the concentration of the polymer solution of the honeycomb porous structure, were also tested. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 1013–1018, 2006