bluuebunny/crossref_metadata_2025_split huggingface dataset:
Giant platelets in a case of deletion 11q24‐qter confirmed by fluorescence in situ hybridization
Authors: Laleye Anatole , Delneste Daniele , Pradier Olivier , Hans Christine , Darboux Raphaël , Ogur Gonul 
Published: October 2002

AbstractHere we report the association of giant platelets and an increase in platelet volume in a 19‐month‐old black female with de novo del 11q24‐qter. The deletion, which was visible on karyotype, was further confirmed and more precisely localized by fluorescence in situ hybridization studies (FISH) that showed the deletion to lie distal to the MLL gene region (11q23). Clinically, the case presented less severe symptoms than Jacobsen syndrome‐the well known partial deletion of the distal end of chromosome 11. Platelet glycoproteins CD 41, CD 42a, C 42b, CD 61, and PAC‐1 were also assayed and found to be normally expressed. To our knowledge, giant platelets are described for the first time in the relevant deleted region. © 2002 Wiley‐Liss, Inc.
Association of external auditory canal atresia, vertical talus, and hypertelorism: Confirmation of rasmussen syndrome
Authors: Julia Sophie , Pedespan Jean Michel , Boudard Philippe , Barbier Richard , Gavilan‐Cellie Isabelle , Chateil Jean François , Lacombe Didier 
Published: October 2002

AbstractIn 1979, Rasmussen et al. reported six members of a family with congenital, bilateral, symmetrical, and isolated subtotal atresia of the external auditory canal, bilateral foot abnormalities, and increased interocular distance. The family history suggested autosomal dominant inheritance of the syndrome. We report a 3‐year‐old girl whose symptoms are compatible with this diagnosis. Therefore, we suggest confirmation of the description by Rasmussen et al. as a distinct entity and suggest the term Rasmussen syndrome for this condition. © 2002 Wiley‐Liss, Inc.
Chromosome 13q neocentromeres: Molecular cytogenetic characterization of three additional cases and clinical spectrum
Authors: Li Shulan , Malafiej Paul , Levy Brynn , Mahmood Radma , Field Michael , Hughes Thomas , Lockhart Lillian H. , Wu Zhanhe , Huang Melissa , Hirschhorn Kurt , Velagaleti Golpalrao V.N. , Daniel Art , Warburton Peter E. 
Published: October 2002

AbstractWe report three new cases of chromosome 13 derived marker chromosomes, found in unrelated patients with dysmorphisms and/or developmental delay. Molecular cytogenetic analysis was performed using fluorescence in situ hybridization (FISH) with chromosome‐specific painting probes, alpha satellite probes, and physically mapped probes from chromosome 13q, as well as comparative genomic hybridization (CGH). This analysis demonstrated that these markers consisted of inversion duplications of distal portions of chromosome 13q that have separated from the endogenous chromosome 13 centromere and contain no detectable alpha satellite DNA. The presence of a functional neocentromere on these marker chromosomes was confirmed by immunofluorescence with antibodies to centromere protein‐C (CENP‐C). The cytogenetic location of a neocentromere in band 13q32 was confirmed by simultaneous FISH with physically mapped YACs from 13q32 and immunofluorescence with anti‐CENP‐C. The addition of these three new cases brings the total number of described inv dup 13q neocentic chromosomes to 11, representing 21% (11/52) of the current overall total of 52 described cases of human neocentric chromosomes. This higher than expected frequency suggests that chromosome 13q may have an increased propensity for neocentromere formation. The clinical spectrum of all 11 cases is presented, representing a unique collection of polysomy for different portions of chromosome 13q without aneuploidies for additional chromosomal regions. The complexity and variability of the phenotypes seen in these patients does not support a simple reductionist view of phenotype/genotype correlation with polysomy for certain chromosomal regions. © 2002 Wiley‐Liss, Inc.
Possible third case of Lin‐Gettig syndrome
Authors: Hedera Peter , Innis Jeffrey W. 
Published: October 2002

AbstractWe report a patient with craniosynostosis, severe mental retardation, absence of the corpus callosum, camptodactyly, hypogonadism, and ventricular septal defect. We propose that he has Lin‐Gettig syndrome and that he is the third reported patient with this entity. Our patient also had additional phenotypic features, including palatal cleft and absent rapid eye movement (REM) sleep that were not present in the two previously described patients with this syndrome. High‐resolution karyotype and subtelomeric fluorescence in situ hybridization (FISH) for cryptic telomeric rearrangement were normal. The existence of an unrelated patient with Lin‐Gettig syndrome supports that this is a separate and distinct clinical entity. © 2002 Wiley‐Liss, Inc.
Genotype–phenotype correlation in cystic fibrosis: The role of modifier genes
Authors: Salvatore Francesco , Scudiero Olga , Castaldo Giuseppe 
Published: October 2002

AbstractMore than 1,000 mutations have been identified in the cystic fibrosis (CF) transmembrane regulator (CFTR) disease gene. The impact of these mutations on the protein and the wide spectrum of CF phenotypes prompted a series of Genotype–Phenotype correlation studies. The CFTR genotype is invariably correlated with pancreatic status—in about 85% of cases with pancreatic insufficiency and in about 15% of cases with pancreatic sufficiency. The correlations between the CFTR genotype and pulmonary, liver, and gastrointestinal expression are debatable. The heterogeneous phenotype in CF patients bearing the same genotype or homozygotes for nonsense mutations implicated environmental and/or genetic factors in the disease. However, the discordant phenotype observed in CF siblings argued against a major role of environmental factors and suggested that genes other than CFTR modulate the CF phenotype. A locus that modulates gastrointestinal expression was identified in mice and subsequently in humans. By analyzing nine CF patients discordant for meconium ileus we were able to show that this locus had a dominant effect. Moreover, in a collaborative study we found a higher rate of polymorphisms in β‐defensin genes 1 and 2 in CF patients and in controls. In another multicenter study mutations in α‐1 antitrypsin (A1AT) and mannose binding lectin genes were found to be independent risk factors for liver disease in CF patients. The body of evidence available suggests that the variegated CF phenotype results from complex interactions between numerous gene products. © 2002 Wiley‐Liss, Inc.
Generalized abnormal embryonic development in missed abortion: Embryoscopic and cytogenetic findings
Authors: Philipp Tom , Kalousek Dagmar K. 
Published: October 2002

AbstractA direct view of the embryo by means of transcervical embryoscopy prior to evacuation in 154 cases of missed abortion showed general embryonic maldevelopment in 48 cases (31%). A successful cytogenetic evaluation of these growth‐disorganized embryos was performed in 37. Chromosomal abnormalities were found in 26 cases (70%), with autosomal trisomies in 24 cases (92%). Trisomies involved chromosome 3 (one case), 6 (one case), 8 (two cases), 10 (one case), 12 (two cases), 14 (one case), 16 (11 cases), 20 (one case), and 22 (four cases). Most of these chromosome abnormalities represented nonviable defects, and their presence explained the minimal embryonic development observed embryoscopically. An apparently normal karyotype was observed in 11 growth‐disorganized embryos whose maldevelopment was similar to that resulting from the trisomies listed above. The factors responsible for embryonic maldevelopment with a normal karyotype are presently unknown and require further study, including investigation of imprinting defects, subtelomeric abnormalities, and cryptic mosaicism. © 2002 Wiley‐Liss, Inc.
Cockayne syndrome in three sisters with varying clinical presentation
Authors: Mahmoud Adel A.H. , Yousef George M. , Al‐Hifzi Ibrahim , Diamandis Eleftherios P. 
Published: October 2002

AbstractWe report three sisters showing the clinical features and investigational findings of Cockayne syndrome (CS). In the rehabilitation unit of Northwest Armed Forces Hospital (N.W.A.F.H.), Tabuk, Saudi Arabia, there was a 12‐year‐old girl with typical features of CS. The girl had no apparent problems until the end of the first year when growth and developmental delay prompted medical evaluation. Brain CT, bone X‐rays, auditory and ophthalmological evaluation confirmed the clinical impression of Cockayne syndrome. Two of her 13 sibs, both sisters, were later found to have the same syndrome. The sisters varied in clinical severity, as two of them had cataracts and early global delay and died early of inanition and infection. The third showed the disease manifestations at a relatively later age, did not have cataract, exhibited milder manifestations of the disease, and remains alive. The parents are not related by any way and the father is married to two other wives with 11 unaffected children. This report documents variable degrees of manifestations in sibs who presumably have the same gene mutation. © 2000 Wiley‐Liss, Inc.
Cobalamin disorder Cbl‐C presenting with late‐onset thrombotic microangiopathy
Authors: Van Hove Johan L.K. , Damme‐Lombaerts Rita Van , Grünewald Stephanie , Peters Heidi , Damme Boudewijn Van , Fryns Jean‐Pierre , Arnout Jozef , Wevers Ron , Baumgartner E. Regula , Fowler Brian 
Published: October 2002

AbstractTwo siblings, a boy age 12 and his sister age 4 years, presented with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. At age 13 years, the boy developed an episode of severe hypertensive encephalopathy and transient renal failure. Both children are attending normal school, have no neurologic symptoms, and only minimal pigmentary retinal abnormalities. Renal biopsy showed a chronic thrombotic microangiopathic nephropathy. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Fibroblasts showed decreased cobalamin uptake, reduced methyl‐ and adenosyl‐cobalamin formation, and deficient incorporation of formate and propionate, compatible with the Cbl‐C complementation group, but milder than that found in cells from most patients. Both patients and their father carry a balanced reciprocal translocation. Parenteral hydroxycobalamin treatment reduced the homocysteine levels, and methylmalonic acid disappeared. Increasing the dosage of hydroxycobalamin from 1 to 2.5, then 5 mg daily together with betaine, further reduced homocysteine levels (boy from 118 to 23 μM and girl from 59 to 14 μM). With this treatment, hemolysis has stopped, hematuria has disappeared, proteinuria has almost normalized, and creatinine clearance has been stable. Investigations for chronic thrombotic microangiopathy should include testing for this unusual but treatable disorder, regardless of age of presentation. © 2002 Wiley‐Liss, Inc.
Meta‐analysis of the association between tryptophan hydroxylase and suicidal behavior
Authors: Lalovic A. , Turecki G. 
Published: October 2002

AbstractTryptophan hydroxylase (TPH) has been the candidate gene of focus in many of the association studies of suicidal behavior in recent years. Initial positive findings with respect to an association between the TPH gene and suicidal behavior have been replicated, but not consistently. Typically, individual studies have investigated small samples, and thus they repeatedly had insufficient statistical power to detect a positive association. Meta‐analysis is one approach that can be used to achieve greater statistical power and may be helpful in providing a more conclusive understanding. We used meta‐analytic techniques to investigate the association between an intron 7 polymorphism in the TPH gene and suicidal behavior. A total of 39 publications were identified and reviewed, 17 of which were selected for inclusion in this study. We performed two meta‐analyses. One compared suicide attempters or completers (N = 1,290) with healthy controls (N = 2,295); the other compared suicide attempters (N = 625) with nonattempters (N = 1,475). None of these studies provided evidence for association (odds ratio (OR) = 1.14, 95% confidence interval (CI) = 0.97–1.34 for the former and OR = 0.96, 95% CI = 0.77–1.20 for the latter). The combined results from comparisons within both groups showed no overall association between suicidal behavior and an intron 7 polymorphism of the TPH gene. © 2002 Wiley‐Liss, Inc.
Morphometric appraisal of the skull of Caroline Crachami, the Sicilian “dwarf” 1815?–1824: A contribution to the study of primordial microcephalic dwarfism
Authors: Jeffery Nathan , Berkovitz B.K.B. 
Published: October 2002

AbstractThe skeleton of Caroline Crachami is a rare historical example of primordial microcephalic dwarfism (PMD). Studies show the condition to be heterogeneous, with at least three types, for which the assessment criteria rely on descriptive evaluations and/or simple measures with regard to cranial features. Advances in noninvasive imaging allow for a more complete morphometric examination of the skull of Caroline Crachami with the aim of clarifying aspects of the condition. In the present study, the skull of Caroline Crachami was three‐dimensionally imaged with computed tomography (CT) and reconstructed in virtual space. Coordinates for a number of measurements were taken to represent interesting anatomies with an emphasis on those measures not easily replicated on the skull itself. Volumes of the endocranial cavity and sella turcica were also computed. These data were compared with normative values taken from the literature and measured from CT images of the Bosma collection. Findings indicate that the general size of the skull is equivalent to that of a 6‐ to 8‐month‐old, that the endocranial volume and cranial base angle are commensurate with that of a newborn, and that the sella volume is the same as that for an 8‐ to 15‐month‐old. Apart from these traits, the skull was well proportioned and within the range of normal variation for a skull aged between 2–9 years. We conclude that further quantitative analysis on related skulls is warranted in the study of PMD using the methods and techniques described. © 2002 Wiley‐Liss, Inc.
Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations
Authors: Mingroni‐Netto Regina Célia , Angeli Claudia B. , Auricchio Maria Teresa B.M. , Leal‐Mesquita Emygdia R. , Ribeiro‐dos‐Santos Ândrea K.C. , Ferrari Iris , Hutz Mara H. , Salzano Francisco M. , Hill Kim , Hurtado A. Magdalena , Vianna‐Morgante Angela M. 
Published: October 2002

AbstractIn order to assess the molecular variability related to fragile X (FMR1 locus), we investigated the distribution of CGG repeats and DXS548/FRAXAC1 haplotypes in normal South American populations of different ethnic backgrounds. Special attention was given to Amerindian Wai‐Wai (Northern Brazil) and Ache (Paraguay), as well as to Brazilian isolated communities of African ancestry, the remnants of quilombos. Comparison of samples from quilombos, Amerindians, and the ethnically mixed, but mainly European‐derived population of São Paulo revealed that the 30‐copy allele of the fragile X gene is the most frequent in all groups. A second peak at 20 repeats was present in the population of São Paulo only, confirming this as a European peculiarity. The distribution of DXS548 and FRAXAC1 alleles led to a high expected heterozygosity in African Brazilians, followed by that observed in the population of São Paulo. Amerindians showed the lowest diversity in CGG repeats and DXS548/FRAXAC1 haplotypes. Some rare alleles, for example, the 148‐bp (FRAXAC1) or 200‐bp (DXS548) variants, which seem to be almost absent in Europe, occurred in higher frequencies among African Brazilians. This suggests a general trend for higher genetic diversity among Africans; these rarer alleles could be African in origin and would have been lost or possibly were not present in the groups that gave rise to the Europeans. © 2002 Wiley‐Liss, Inc.
A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: Report of a Thai family
Authors: Kantaputra Piranit N. , Yamasaki Kentaro , Ishida Takafumi , Kishino Tatsuya , Niikawa Norio 
Published: October 2002

AbstractWe report on a Thai family with dominantly inherited malformation syndrome with upper limb anomalies, short stature, quadricuspid aortic valve, and minor craniofacial anomalies. The affected individuals comprised a mildly affected mother, a moderately affected daughter, and a most severely affected son. The daughter and son had short stature. The craniofacial abnormalities comprised frontal bossing, hypoplastic nasal bones, depressed nasal bridge, and broad nasal alae. The upper limb defects varies among the patients, ranging from radial ray defects in the mother through radial and ulnar ray defects with unilateral humeral hypoplasia in the daughter to radial ray defects with severe oligodactyly and bilateral humeral hypoplasia in the son. All patients in this family had hypoplasia of the shoulder girdle and resembled what is observed in many families with Holt‐Oram syndrome. Moreover, the son showed quadricuspid aortic valve with mild aortic regurgitation. However, the present family did not show any mutation of the TBX5 gene, a disease‐causing gene of Holt‐Oram syndrome. The present family deserves further investigation on other genes that play a role in the development of the upper limbs, particularly of radial rays. © 2002 Wiley‐Liss, Inc.
Partial duplication 4q and deletion 1p36 in monozygotic twins with discordant phenotypes
Authors: Angle Brad , Yen Frank , Hersh Joseph H. , Gowans Gordon , Barch Margaret 
Published: October 2002

AbstractWe report on monozygotic (MZ) twins with a de novo chromosome abnormality consisting of a partial duplication of chromosome 4 (q25‐qter) and deletion of chromosome 1p36. These infants had dysmorphic facial features and other clinical manifestations similar to those described with the previously delineated duplication 4q and deletion 1p36 phenotypes and two other reported cases of combined partial duplication 4q and deletion 1p36. However, the twins were discordant for a number of congenital anomalies. The discordant phenotypes described in these genetically identical infants demonstrate that nongenetic factors may play a significant role in the phenotypic differences in patients with recognized chromosome duplication and deletion syndromes, which are usually attributed to the individual genotypic differences in the duplicated and/or deleted chromosome segments. © 2002 Wiley‐Liss, Inc.
Diseases caused by nuclear genes affecting mtDNA stability
Authors: Suomalainen Anu , Kaukonen Jyrki 
Published: October 2002

AbstractDiseases caused by nuclear genes that affect mitochondrial DNA (mtDNA) stability are an interesting group of mitochondrial disorders, involving both cellular genomes. In these disorders, a primary nuclear gene defect causes secondary mtDNA loss or deletion formation, which leads to tissue dysfunction. Therefore, the diseases clinically resemble those caused by mtDNA mutations, but follow a Mendelian inheritance pattern. Several clinical entities associated with multiple mtDNA deletions have been characterized, the most frequently described being autosomal dominant progressive external ophthalmoplegia (adPEO). MtDNA depletion syndrome (MDS) is a severe disease of childhood, in which tissue‐specific loss of mtDNA is seen. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients may have multiple mtDNA deletions and/or mtDNA depletion. Recent reports of thymidine phosphorylase mutations in MNGIE and adenine nucleotide translocator mutations in adPEO have given new insights into the mechanisms of mtDNA maintenance in mammals. The common mechanism underlying both of these gene defects could be disturbed mitochondrial nucleoside pools, the building blocks of mtDNA. Future studies on MNGIE and adPEO pathogenesis, and identification of additional gene defects in adPEO and MDS will provide further understanding about the mammalian mtDNA maintenance and the crosstalk between the nuclear and mitochondrial genomes. © 2001 Wiley‐Liss, Inc.
ALFRED: An allele frequency database for anthropology
Authors: Osier Michael V. , Cheung Kei‐Hoi , Kidd Judith R. , Pakstis Andrew J. , Miller Perry L. , Kidd Kenneth K. 
Published: October 2002

AbstractThe deluge of data from the human genome project (HGP) presents new opportunities for molecular anthropologists to study human variation through the promise of vast numbers of new polymorphisms (e.g., single nucleotide polymorphisms or SNPs). Collecting the resulting data into a single, easily accessible resource will be important to facilitate this research. We created a prototype Web‐accessible database named ALFRED (ALelle FREquency Database, http://alfred.med.yale.edu/alfred/) to store and make publicly available allele frequency data on diverse polymorphic sites for many populations. In constructing this database, we considered many different concerns relating to the types of information needed for anthropology, population genetics, molecular genetics, and statistics, as well as issues of data integrity and ease of access to data. We also developed links to other Web‐based databases as well as procedures for others to make links to the data in ALFRED. Here we present an overview of the issues considered and provisional solutions, as well as an example of data already available. It is our hope that this database will be useful for research and teaching in a wide range of fields, and that colleagues from various fields will contribute to making ALFRED an important resource for many studies as yet unforeseen. Am J Phys Anthropol 119:77–83, 2002. © 2002 Wiley‐Liss, Inc.
No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V
Authors: Toscano Ennio , Simonati Alessandro , Indo Yasuhiro , Andria Generoso 
Published: October 2002

AbstractHereditary sensory and autonomic neuropathy type IV (HSAN‐IV) and type V (HSAN‐V) are autosomal recessive genetic disorders, both characterized by a lack of pain sensation. We report a girl with clinical and neurophysiological findings consistent with a diagnosis of HSAN‐V. We sequenced her TRKA gene, encoding a receptor tyrosine kinase for nerve growth factor and responsible for HSAN‐IV, but we could not detect any mutation. These data indicate that a gene (or genes) other than TRKA is probably responsible for HSAN‐V in some patients.