bluuebunny/crossref_metadata_2025_split huggingface dataset:
Translocation (Y;22) resulting in the loss of SHOX and isolated short stature
Authors: Borie C. , Léger J. , Dupuy O. , Hassan M. , Ledu N. , Lebbar A. , Czernichow P. , Eydoux P. 
Published: February 2004

AbstractChromosomal rearrangements involving both chromosome Y and chromosome 22 are rare, and may result in a number of different phenotypes. We report on a 4‐year‐old child with short stature and a dicentric chromosome with a deletion of the distal end of chromosome Yp. The pregnancy was uneventful, until intra‐uterine growth retardation was noted. Prenatal karyotyping showed a (Y;22) translocation. No structural fetal abnormality was shown at ultrasound examination, and the pregnancy went to term. A growth‐retarded boy with an otherwise normal physical examination was delivered at 39 weeks. At age 4, the child had short stature (−3 SD) without mental retardation. Radiological examination of the wrist was normal. A blood karyotype confirmed the chromosomal rearrangement previously seen on the amniotic fluid cells. C‐banding showed a dicentric chromosome, and fluorescence in situ hybridization (FISH) with centromeric probes confirmed the presence of both chromosome Y and 22 centromeres on the derivative chromosome. The karyotype was thus 45,X,der(Y;22)(p11;q11)del(Y)(p11p11). Our patient's phenotype and chromosomal rearrangement prompted us to further investigate the distal Yp region. FISH using a subtelomeric probe showed a deletion of the distal Yp region. This technique also revealed that this chromosomal rearrangement resulted in the deletion of SHOX but not SRY. Although haploinsufficiency of SHOX may result in Léri‐Weill Dyschondrosteosis, this diagnosis did not seem obvious in this young patient. This observation confirms the importance of FISH in the investigation of chromosomal abnormalities, and further delineates the phenotype of SHOX deleted patients. © 2003 Wiley‐Liss, Inc.
Analysis of neurofibromatosis 1 (NF1) lesions by body segment
Authors: Palmer Chana , Szudek Jacek , Joe Harry , Riccardi Vincent M. , Friedman J.M. 
Published: February 2004

AbstractCafé‐au‐lait spots and neurofibromas are defining features of neurofibromatosis 1 (NF1), but they vary greatly in number, size, and clinical importance from patient to patient. The cause of this variability is unknown. We tested the hypotheses that development of these lesions is influenced by local or familial factors. The presence or absence of café‐au‐lait spots, cutaneous neurofibromas, and diffuse plexiform neurofibromas was recorded for each of 10 divisions of the body surface in 547 NF1 patients, including 117 affected individuals in 52 families. We used stratified Mantel‐Haenszel tests to look for local associations between the presence of diffuse plexiform neurofibromas, cutaneous neurofibromas, and café‐au‐lait spots in individual body segments of NF1 patients. We used a random effects model to obtain intrafamilial correlation coefficients for the age‐adjusted number of body divisions affected with each of the three lesions. No significant association was observed between the occurrence of cutaneous and diffuse plexiform neurofibromas, between café‐au‐lait spots and cutaneous neurofibromas, or between café‐au‐lait spots and plexiform neurofibromas in the same body segment. The correlation among relatives in the number of body segments affected with café‐au‐lait spots was 0.45 (95% confidence interval [CI] = 0.18–0.71), with cutaneous neurofibromas, 0.37 (95% CI = 0.15–0.55), and with plexiform neurofibromas, 0.35 (95% CI = 0.15–0.57). We conclude that the development of café‐au‐lait spots, cutaneous neurofibromas, and plexiform neurofibromas are spatially independent in NF1 patients but that the development of all three lesions is influenced by familial factors. © 2003 Wiley‐Liss, Inc.
Mitochondrial myopathy and sideroblastic anemia
Authors: Casas Kari A. , Fischel‐Ghodsian Nathan 
Published: February 2004

AbstractWe report four new cases of mitochondrial myopathy and sideroblastic anemia (MSA). Hallmark features of MSA include progressive exercise intolerance during childhood, onset of sideroblastic anemia around adolescence, basal lactic acidemia, and mitochondrial myopathy. Autosomal recessive inheritance of MSA in the family we describe is assumed due to the presence of two affected sibling pairs, unaffected parents, an unaffected sibling, and parental consanguinity. The nuclear families we describe are paternally related and originate from the same Iranian city as a family with MSA described by [Inbal et al., 1995]. These families provide an opportunity to clarify the molecular basis of tissue specific expression of mitochondrial disorders. © 2003 Wiley‐Liss, Inc.
Long‐term follow‐up of three individuals with Kabuki syndrome
Authors: Shalev Stavit A. , Clarke Lorne A. , Koehn David , Langlois Sylvie , Zackai Elaine H. , Hall Judith G. , Mcdonald McGinn Donna M. 
Published: February 2004

AbstractLong‐term follow‐up of three individuals with Kabuki syndrome indicates their phenotype becomes less striking as adults. It is characterized by short stature, obesity, and relatively large head. Long palpebral fissures persist, as does mild to moderate mental retardation. Independent daily living skills are achieved but a sheltered living environment is needed. © 2003 Wiley‐Liss, Inc.
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia
Authors: Canki‐Klain Nina , Milic Astrid , Kovac Biserka , Trlaja Anuska , Grgicevic Damir , Zurak Niko , Fardeau Michel , Leturcq France , Kaplan Jean‐Claude , Urtizberea J. Andoni , Politano Luisa , Piluso Giulio , Feingold Josue 
Published: February 2004

AbstractMutations in the calpain 3 (CAPN3) gene are responsible for limb‐girdle muscular dystrophy (LGMD) type 2A. We report five causal mutations: 550delA, ΔFWSAL, R541W, Y357X and R49H found on 45/50 of alleles studied in 25 unrelated families from Croatia. The 550delA mutation was present on 76% of CAPN3 chromosomes that led us to screen general population for this mutation; 532 random blood samples from three different regions were analyzed using allele‐specific PCR. Four healthy 550delA heterozygous were found suggesting a frequency of 1 in 133. All four carriers detected originated from an island and mountain region close to the Adriatic Sea. These findings combined with haplotype analysis confirm that our general population is rather “closed” with a probable founder effect in some parts of the country. In addition, the high frequency of 550delA mutation found in some neighboring European countries together with the easy detection of the 550delA mutation should streamline genetic analysis, especially bearing in mind the geographic and ethnic origin of the patients. Our results, combined with published haplotype studies suggest that 550delA originated in the Eastern Mediterranean from which it has probably spread widely across Europe. Extending this study to other areas would help to address this epidemiological question. Our data are relevant to accurate genetic counseling and patient testing since we lack sensitive and specific biopsy screening methods for detecting patients with calpainopathy. Thus, detection of patients relies on the direct detection of gene mutation and our findings may be helpful in establishing diagnostic screening strategy. © 2003 Wiley‐Liss, Inc.
Genetic analysis of candidate loci in non‐syndromic cleft lip families from Antioquia‐Colombia and Ohio
Authors: Moreno Lina M. , Arcos‐Burgos Mauricio , Marazita Mary L. , Krahn Katherine , Maher Brion S. , Cooper Margaret E. , Valencia‐Ramirez Consuelo R. , Lidral Andrew C. 
Published: February 2004

AbstractNon‐syndromic cleft lip with or without cleft palate (CL/P) is a genetically complex birth defect, with a prevalence from 1/500 to 1/1,000 live births. Evidence from linkage and linkage disequilibrium studies is contradictory suggesting that heterogeneity between study populations may exist. A recent report of a genome widescan in 92 sib pairs from the United Kingdom revealed suggestive linkage to 10 loci [Prescott et al.,2000]. The purpose of this study is to replicate those results and evaluate additional candidate genes in 49 Colombian and 13 Ohio families. Genotypes were obtained for STRPs at 1p36, 2p13 (TGFA), 4p16 (MSX1), 6p23‐25, 6q25‐27, 8q23‐24, 11p12‐q13, 12q13, 14q24 (TGFB3), 16q22‐24, 17q12‐21 (RARA), and Xcen‐q21. Linkage was performed using parametric (dominant and recessive models) and non‐parametric (GenehunterNPL and SimIBD) analyses. In addition, heterogeneity was analyzed using GenehunterHLOD, and association determined by the TDT. The Colombian families showed significant SimIBD results for 11p12‐q13 (P = 0.034), 12q13 (P = 0.015), 16q22‐24 (0.01), and 17q12‐21 (0.009), while the Ohio families showed significant SimIBD results for 1p36 (P = 0.02), TGFA (P = 0.005), 6p23 (P = 0.004), 11p12‐q13 (P = 0.048) and significant NPL results for TGFA (NPL = 3.01,P = 0.009), 4p16 (MNPL = 2.07,P = 0.03) and 12q13 (SNPL = 3.55,P = 0.007). Significant association results were obtained only for the Colombian families in the regions 1p36 (P = 0.046), 6p23‐25 (P = 0.020), and 12q13 (P = 0.046). In addition several families yielded LOD scores ranging from 1.09 to 1.73, for loci at 4p16, 6p23‐25, 16q22‐24, and 17q13. These results confirm previous reports for these loci. However, the differences between the two populations suggest that population specific locus heterogeneity exists. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website athttp://www.interscience.wiley.com/jpages/0148–7299/suppmat/index.html. © 2004 Wiley‐Liss, Inc.
Autosomal trisomy and maternal use of multivitamin supplements
Authors: Botto Lorenzo D. , Mulinare Joseph , Yang Quanhe , Liu Yecai , Erickson J. David 
Published: February 2004

AbstractRecent reports suggest that women carrying certain polymorphisms of folate genes associated with suboptimal folate status might be at increased risk for having a child with Down syndrome or other autosomal trisomies, and hypothesized that maternal use of multivitamin supplements might reduce such risk. To evaluate this hypothesis, we examined data from a population‐based case‐control study, and contrasted cases of Down syndrome, trisomy 18, and trisomy 13, with unaffected controls. Periconceptional multivitamin use, compared to no such use, was associated with an odds ratio (OR) of 0.9 (95% confidence interval [CI], 0.6–1.3) for having a pregnancy affected by an autosomal trisomy. The OR was 0.8 (95% CI, 0.5–1.3) for Down syndrome and 1.4 (95% CI, 0.5–3.6) for trisomies 13 and 18, with little variation by maternal race or age. Periconceptional multivitamin use was not associated with a major reduction in the risk for common autosomal trisomies. Published 2003 Wiley‐Liss, Inc.
Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes
Authors: Gleeson Joseph G. , Keeler Lesley C. , Parisi Melissa A. , Marsh Sarah E. , Chance Phillip F. , Glass Ian A. , Graham Jr John M. , Maria Bernard L. , Barkovich A. James , Dobyns William B. 
Published: February 2004

AbstractThe Molar Tooth Sign (MTS) is defined by an abnormally deep interpeduncular fossa; elongated, thick, and mal‐oriented superior cerebellar peduncles; and absent or hypoplastic cerebellar vermis that together give the appearance of a “molar tooth” on axial brain MRI through the junction of the midbrain and hindbrain (isthmus region). It was first described in Joubert syndrome (JS) where it is present in the vast majority of patients with this diagnosis. We previously showed that the MTS is a component of several other syndromes, including Dekaban–Arima (DAS), Senior–Löken, and COACH (cerebellar vermis hypoplasia (CVH), oligophrenia, ataxia, coloboma, and hepatic fibrosis). Here we present evidence that the MTS is seen together with polymicrogyria, Váradi–Papp syndrome (Orofaciodigital VI (OFD VI)), and a new syndrome with encephalocele and cortical renal cysts. We also present a new patient with COACH syndrome plus the MTS. We propose that the MTS is found in multiple distinct clinical syndromes that may share common developmental mechanisms. Proper classification of patients with these variants of the MTS will be essential for localization and identification of mutant genes. © 2003 Wiley‐Liss, Inc.
Joubert syndrome: A haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene
Authors: Bennett Craig L. , Parisi Melissa A. , Eckert Melissa L. , Huynh Huy M. , Chance Phillip F. , Glass Ian A. 
Published: February 2004

AbstractJoubert syndrome (JS) is a rare autosomal recessive malformation syndrome, involving dysgenesis of the cerebellar vermis with accompanying brainstem malformations (comprising the molar tooth sign). JS is characterized by hypotonia, developmental delay, intermittent hyperpnea and apnea, and abnormal eye movements. A single locus for JS was previously identified on 9q34 in a consanguineous family of Arabian origin. However, linkage to this locus has subsequently been shown to be rare. We have ascertained 35 JS pedigrees for haplotype segregation analysis of genetic loci for genes with a putative role in cerebellar development. We examined the ZIC1 gene as a functional candidate for JS as Zic1−/− null mice have a phenotype reminiscent of JS. We undertook mutational analysis of ZIC1 by standard mutational analysis (dideoxy‐fingerprinting (ddf)) of 47 JS probands, and fully sequenced the coding region in five of these probands. By these means, ZIC1 was excluded from playing a causal role in most cases of JS as no disease‐associated mutations were identified. Further, linkage to the ZIC1 genetic locus (3q24) was excluded in 21 of 35 pedigrees by haplotype segregation analysis of closely spaced markers. The remaining 14 of 35 pedigrees were consistent with linkage. However, this number does not significantly depart from that expected by random chance (16.5) for this cohort. Therefore, this systematic approach has been validated as a means to prioritize functional candidate genes and enables us to confine mutational analysis to only those probands whose segregation is consistent with linkage to any given locus. © 2003 Wiley‐Liss, Inc.
Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects
Authors: Román Corona‐Rivera J. , Corona‐Rivera Enrique , Fragoso‐Herrera Rubén , Nuño‐Arana Ismael , Loera‐Castañeda Verónica 
Published: February 2004

AbstractCongenital palmar polyonychia (CPP) is a rare and usually sporadic birth defect. We report on a Mexican girl with CPP of both 5th fingers and her sister with ectrodactyly with ulnar ray deficits and agenesis of the ulna. In previous reports, CPP has been seen in ectrodactyly with involvement of the ulna and ulnar digital rays and with postaxial polydactyly. Such findings observed in our patients can be considered a form of CPP. Autosomal dominant inheritance of CPP is more likely based in previous informative families with vertical transmission and instances of male‐to‐male transmission. The present and two previous families with affected sibs only may represent parental gonadal mosaicism, whereas de novo mutation or incomplete evaluation of relatives could be an explanation for sporadic cases. Variable expression of the CPP phenotype may be a new autosomal dominant entity, i.e., a CPP‐postaxial limb defect syndrome. © 2003 Wiley‐Liss, Inc.
Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)
Authors: Gole Leena , Crolla John A. , Thomas Simon N. , Jacobs Patricia A. , Dennis Nicholas R. 
Published: February 2004

AbstractWe report the clinical, cytogenetic, and molecular findings in a family in which a t(Y;15)(p11.2;q12) is segregating. The Y chromosome breakpoint disrupts the DYZ5 sequence containing the TSPY genes that are exclusively expressed in the testes while the chromosome 15 breakpoint is within the GABRG3 gene. The father and his son who both carried the balanced form of the translocation are clinically normal. A daughter who carried the der Y had the clinical features of Prader–Willi syndrome while a son who carries the der 15 has mild developmental delay and hypogonadism. The relationship of the translocation to the clinical phenotypes is discussed. © 2003 Wiley‐Liss, Inc.
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment
Authors: Hay Beverly N. , Martin Julie E. , Karp Barbara , Davis Joie , Darnell Dirk , Solomon Beth , Turner Maria , Holland Steven M. , Puck Jennifer M. 
Published: February 2004

AbstractWe report a family with five of six siblings (including identical male twins) with a novel constellation of immunologic and neurologic impairments. Affected subjects experienced severe dermatitis starting around 9 months of age, Stevens–Johnson syndrome in early childhood, and extreme elevations of IgE (9,400–43,000 IU/ml). The oldest sibling died at age 27 of respiratory failure following recurrent, severe pneumonias. All four surviving affected siblings have had chronic sinusitis or otitis, cutaneous vasculitis, and recurrent bacterial pneumonias leading to bronchiectasis. Neurologic features in all five siblings included oral motor deficits, dysarthria, low average IQ (70–80), and essential myoclonus. Four had documented ataxia and/or mild sensory loss with increased patellar but diminished ankle reflexes. The nonconsanguineous parents and one sibling had none of the above findings, consistent with autosomal recessive inheritance. This primary immunodeficiency with distinctive neurological impairments represents a new syndrome. Published 2003 Wiley‐Liss, Inc.
Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome
Authors: Nowaczyk Małgorzata J.M. , Martin‐Garcia Diana , Aquino‐Perna Angel , Rodriguez‐Vazquez Miguel , McCaughey Donna , Eng Barry , Nakamura Lisa M. , Waye John S. 
Published: February 2004

AbstractSmith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive MCA‐MR disorder caused by mutations within the 7‐dehydrocholesterol reductase gene,DHCR7. The diagnosis is based on the biochemical findings of elevated plasma 7‐dehydrocholesterol (7DHC) levels. It is a panethnic condition with variable mutation frequencies in different populations. Ten Cuban patients and four Canadian patients of Mediterranean ancestry with SLOS are reported herein. All these patients are at the mild end of the clinical spectrum (the highest Kelley‐Hennekam severity score was 28 in one patient). All patients had genotypes which were compound heterozygous or homozygous for T93M; in all the Mediterranean patients the T93M mutation appeared to be associated with the J haplotype. Another compound heterozygote for T93M was of Ukrainian/Irish ancestry; in this patient the T93M was associated with a new haplotype designated K. The T93M mutation was initially reported as the most common in a series of patients from Italy. Our identification of a single haplotype associated with the T93M mutation in patients whose ancestors originate in the region of the Mediterranean Sea basin suggests a founder effect. © 2003 Wiley‐Liss, Inc.
Biologisch abbaubare Werkstoffe – Natur oder Petrochemie?
Authors: Mecking Stefan 
Published: February 2004

AbstractNatürlich vorkommende Polymere werden seit langem als Werkstoffe verwendet, wegen ihrer eingeschränkten thermoplastischen Verarbeitbarkeit jedoch nur begrenzt. In jüngerer Zeit hat die mikrobielle Synthese von Polyestern unmittelbar aus Kohlenhydraten starkes Interesse gefunden. Polymilchsäure wird auf der Basis von durch Fermentation hergestellter Milchsäure seit kurzem sogar im großtechnischen Maßstab hergestellt, womit erstmals ein Polyester auf der Basis nachwachsender Rohstoffe als Massenkunststoff zur Verfügung steht. Die biologische Abbaubarkeit eines Materials ist unabhängig von dessen Herkunft, und bioabbaubare Polymere können ebenso auf der Basis fossiler Rohstoffe hergestellt werden. Eine Betrachtung der Kohlendioxid‐Emission und des Verbrauchs nichterneuerbarer Ressourcen über den gesamten Lebenszyklus eines Produktes fällt derzeit nicht unbedingt zugunsten von Materialien auf der Basis nachwachsender Rohstoffe aus, denn außer den für die Materialsynthese verwendeten Rohstoffen ist die zur Erzeugung der benötigten Energie herangezogene Rohstoffbasis entscheidend.
Melt‐intercalation nanocomposites with fluorinated polymers and a correlation for nanocomposite formation
Authors: Kim Younghoon , White James L. 
Published: February 2004

AbstractVarious fluorinated polymers were investigated to produce polymer nanocomposites with special clays. Natural and organically treated montmorillonite clays were melt‐compounded with the polymers. Characterization by wide‐angle X‐ray scattering and transmission electron microscopy showed the separation of montmorillonite layers and the formation of polymer nanocomposites. Organically treated montmorillonite clay dispersed in poly(vinylidene fluoride) and various vinylidene fluoride copolymers and formed nanocomposites. Natural and organophilic clays were not well dispersed in other fluorinated copolymers and polyethylene. A correlation was developed for the formation of polymer–clay nanocomposite structures in chlorinated and fluorinated polymers in terms of the dielectric constant. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 1061–1071, 2004
Studies on Indian silk. II. Structure–property correlations
Authors: Sen Kushal , Babu K Murugesh 
Published: February 2004

AbstractThis second in a series of articles deals with studies on the structure and physical properties of five varieties of Indian silk: two mulberry (bivoltine and crossbreed) and three nonmulberry (tasar, muga, and eri). A detailed analysis of the microstructural parameters and mechanical properties was reported. Significant differences between and within the varieties with respect to microstructural parameters (crystallinity, density, birefringence, dichroic ratio, sonic modulus, etc.), as well as the effect of microstructural parameters on mechanical properties, were discussed. Some of the observations made on the inverse stress relaxation behavior of the different silk varieties were also reported. The extent of variation of these morphological parameters was found to correlate well with the mechanical properties. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 1098–1115, 2004