bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spontaneous abortion–high risk factor for neural tube defects in subsequent pregnancy
Authors: Carmi R. , Gohar J. , Meizner I. , Katz M. 
Published: June 2005

AbstractAn increased spontaneous abortion rate has been observed in pregnancies preceding that of fetuses or newborn infants with neural tube defects (NTDs). There are 2 suggested explanations for this observation. One is that a trophoblastic cell rest, remaining from a previous aborted pregnancy, interferes with normal embryogenesis. The second is that the previous lost fetus was affected with NTD. We studied the obstetric history of mothers of newborn infants with NTDs compared to those with other birth defects, in low and high risk groups for NTD (Jew and Bedouins). A significantly higher spontaneous abortion rate (48%) in the preceding pregnancy was found in the NTD group compared to the group with other birth defects (20%). This was especially remarkable for spina bifida cases in the Jewish study population. A significantly higher rate of preceding spontaneous abortion was also found in congenital heart defects (CHD) when compared to other congenital malformations. A hypothesis based on the multifactorial threshold model is put forward to explain these findings. Based on the realization that spontaneous abortion constitutes a high risk factor for NTD and possibly also CHD, we recommend a delay of subsequent pregnancy and periconceptional treatment with folic acid following spontaneous abortion. © 1994 Wiley‐Liss, Inc.
Seckel syndrome in a Yemeni family in Saudi Arabia
Authors: Krishna A. G. , Scrimgeour E. M. , Zawawi T. H. 
Published: June 2005

AbstractWe studied a 28‐year‐old Yemeni woman with typical Seckel syndrome. Two deceased sibs, a twin sister and a brother, had also been affected. The father of these individuals was married to his cousin's daughter: the pedigree suggests autosomal recessive inheritance. Classical Seckel syndrome has not been reported previously in Arabs, and this appears to be the first report from the Middle East. © 1994 Wiley‐Liss, Inc.
Oral‐facial‐digital syndrome with retinal abnormalities: OFDS type IX. A further case report
Authors: Nevin N. C. , Silvestri J. , Kernohan D. C. , Hutchinson W. M. 
Published: June 2005

AbstractThe oral‐facial‐digital syndromes (OFDS) are a heterogeneous group. Recently, Gurrieri et al. [1992: Am J Med Genet 42:789–792] described a new OFDS characterised by typical oral, facial and digital abnormalities but distinguishable from previously reported OFDS by the presence of retinochoroidal lacunae of an apparently colobomatous origin. Toriello [1993: Clin Dysmorph 2:95–105] designated this possible new OFDS as Type IX. We describe a young woman presenting with oral, facial and digital anomalies and with the specific retinal abnormality reported by Gurrieri et al. [1992], thus confirming the existence of OFDS Type IX. As the patients of Gurrieri et al. [1992] were two affected brothers, they were unable to distinguish between autosomal and X‐linked recessive inheritance. As our patient is an affected female, an autosomal recessive mode of inheritance is more likely. © 1994 Wiley‐Liss, Inc.
Does IQ decline with age in fragile‐X? A methodological critique
Authors: Hay David A. 
Published: June 2005

AbstractThe recent claims for a decline in intelligence test performance in males and females with fragile‐X (fra(X)) syndrome have implications both clinically and in evaluating the underlying neurological basis. This commentary identifies three key issues in evaluating evidence for a decline and in planning future, more co‐ordinated efforts. These are (1) problems in combining data across different intelligence tests and/or different ages with potentially incompatible norms, task demands, and models of the structure of intelligence; (2) limitations in applying to low ability persons tests designed to discriminate best around the population average; and (3) specific cognitive deficits and behavioral problems in fra(X) individuals which may be confounded with the task demands of particular IQ tests at particular ages. While the decline in ability may be a real phenomenon rather than an artifact, recommendations are made about the psychometric requirements for a larger and more definitive collaborative study. © 1994 Wiley‐Liss, Inc.
Transmitting males and carrier females in fragile X–revisited
Authors: Loesch Danuta Z. , Hay David A. , Mulley John 
Published: June 2005

AbstractFragile X “transmitting males” have customarily been defined as phenotypically normal hemizygotes, who show very few or no fragile sites, and who transmit the fragile X premutation to phenotypically normal daughters. However, an objective justification of this definition was lacking. The discovery of an unstable CCG repeat as the genetic basis of fragile X further emphasized the apparent distinction between the “normal transmitting males” with short repeat and expression of the FMR1 gene, and the affected males with larger repeats (Δ > 0.6 kb) and a complete lack of FMR1 transcription. We have recently shown that the transition between these two groups in phenotypic expression of fragile X is gradual, mainly on account of methylation mosaicism. However, there were insufficient data on the phenotype within the short repeat (0.0 < Δ < 0.6) range. In this paper we approach this problem by comparing some clinical, anthropometric, and psychometric data from a sample of normal transmitting males with those from their non‐fragile X male relatives. Moreover, female carriers with short repeat are compared for the same traits with their non‐fragile X female relatives. The results have shown that both males and females with a short repeat differed significantly from normal on several psychometric and physical measurements, and males only showed differences in typical facial traits. Further studies of genotype‐phenotype correlations within the short repeat range, including the estimate of FMR1 gene function and a more exact estimate of repeat size, is required before genetic explanation for the clinical findings can be provided. It is recommended that, in the meantime, the clinical definition of transmitting males or female carriers as “normal” should be replaced by “low expressing.” © 1994 Wiley‐Liss, Inc.
Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X‐linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies
Authors: Hamel Ben C. J. , Mariman Edwin C. M. , van Beersum Sylvia E. C. , Schoonbrood‐Lenssen Anneke M. J. , Ropers Hans‐Hilger 
Published: June 2005

AbstractWe report on two brothers and their two maternal uncles with severe mental retardation, congenital heart defect, cleft or highly arched palate, short stature and craniofacial anomalies consisting of microcephaly, abnormal ears, bulbous nose, broad nasal bridge, malar hypoplasia, and micrognathia. Three of the four patients died at an early age. The mother of the two brothers had an atrial septal defect. She is assumed to be a manifesting carrier of a mutant gene, which is expressed in her two sons and two brothers. By multipoint linkage analysis it is found that the most likely location of the responsible gene is the pericentromeric region Xp21.3‐q21.3 with DMD and DXS3 as flanking markers. Maximum information is obtained with marker DXS453 (Z = 1.20 at θ =0.0). © 1994 Wiley‐Liss, Inc.
Cardiac abnormalities in the Bardet‐Biedl syndrome: Echocardiographic studies of 22 patients
Authors: Elbedour Khalil , Zucker Nili , Zalzstein Eli , Barki Yechiel , Carmi Rivka 
Published: June 2005

AbstractThe Bardet‐Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. A high incidence of congenital and acquired heart disease was reported in the former “Laurence‐Moon‐Biedl‐Bardet” syndrome. However, since the establishment of the Bardet‐Biedl syndrome as a separate clinical entity, cardiac involvement has not been evaluated in this disorder. We have performed echocardiographic studies on 22 patients with the Bardet‐Biedl syndrome from three extended, highly inbred Bedouin families. In addition to previously reported congenital heart defects we have observed hypertrophy of the interventricular septum and dilated cardiomyopathy. Our findings of cardiac involvement in 50% of the cases suggest that echocardiographic examination should be included in the clinical evaluation and follow‐up of patients with Bardet‐Biedl syndrome. © 1994 Wiley‐Liss, Inc.
Megalocornea‐mental retardation syndrome: An additional case
Authors: Antiñolo Guillermo , Rufo Miguel , Borrego Salud , Morales Celia 
Published: June 2005

AbstractIn 1975, Neuhaüser (Z Kinderheilk 120:1–8) reported on a recessively inherited entity comprising mental retardation, megalocornea, and seizures. The megalocorneamental retardation (MMR) syndrome (MIM 249310) is a rare entity. There have been 19 previously published cases and the clinical differences observed between reported patients have raised questions regarding the nosology of the syndrome and the issue of heterogeneity versus variability. We report on a new case: a 26/12‐year‐old boy, first child of nonconsanguineous healthy parents with megalocornea (corneal diameter ⩽ 13 mm), delayed psychomotor development and hypotonia, plus minor facial anomalies. © 1994 Wiley‐Liss, Inc.
Linkage analyses of chromosome 6 loci, including HLA, in familial aggregations of Crohn disease
Authors: Hugot Jean Pierre , Laurent‐Puig Pierre , Gower‐Rousseau Corine , Caillat‐Zucman Sophie , Beaugerie Laurent , Dupas Jean‐Louis , Van Gossum André , Bonaïti‐Pellie Catherine , Cortot Antoine , Thomas Gilles , G.E.T.A.I.D.  
Published: June 2005

AbstractSegregation analyses of familial aggregations of Crohn disease have provided consistent results pointing to the involvement of a predisposing gene with a recessive mode of inheritance. Although extensively investigated, the role played by human leucocyte antigen (HLA) genes in this inflammatory bowel disease remains elusive and the major histocompatibility complex is a candidate region for the mapping of the Crohn disease susceptibility gene. A total of 25 families with multiple cases of Crohn disease was genotyped for HLA DRB1 and for 16 highly polymorphic loci evenly distributed on chromosome 6. The data were subjected to linkage analysis using the lod score method. Neither individual nor combined lod scores for any family and for any locus tested reached values suggesting linkage or genetic heterogeneity. The Crohn disease predisposing locus was excluded from the whole chromosome 6 with lod scores less than −2. It was excluded from the major histocompatibility complex and from 91% of the chromosome 6 genetic map with lod scores less than −4. The major recessive gene involved in genetic predisposition to Crohn disease does not reside on the major histocompatibility complex nor on any locus mapping to chromosome 6. © 1994 Wiley‐Liss, Inc.
Segregation analysis of smoking‐associated malignancies: Evidence for mendelian inheritance
Authors: Sellers Thomas A. , Chen Ping‐Ling , Potter John D. , Bailey‐Wilson Joan E. , Rothschild Henry , Elston Robert C. 
Published: June 2005

AbstractTobacco consumption is an established risk factor for cancer at a number of sites: oral cavity, esophagus, nasopharynx, lung, larynx, pancreas, bladder, kidney, and uterine cervix. These sites also demonstrate familial aggregation. To determine if evidence exists for a major gene controlling susceptibility to smoking‐associated cancers, maximum likelihood segregation analyses were performed on 337 families (3,276 individuals) ascertained through a deceased lung cancer proband. Models were fitted that allowed for personal tobacco use and variable age of onset. The hypotheses of environmental transmission and no major gene were rejected (P < 0.005), but none of the Mendelian models could be distinguished. According to Akaike's Information Criterion, Mendelian dominant inheritance of an allele that produces cancer at an earlier age of onset provided the best fit to the data. The model suggests that 62% of the population are susceptible, and that the mean age‐of‐onset differs for men and women: at the mean level of tobacco exposure, female gene carriers are affected, on average, 24 years earlier than non‐carriers (77 vs. 101), while in males the difference was 20 years (71 vs. 91). These findings extend our earlier observations on the genetic epidemiology of lung cancer and suggest that Mendelian factors may influence the risk of cancers that are known to be smoking associated. © 1994 Wiley‐Liss, Inc.
10p Duplication characterized by fluorescence in situ hybridization
Authors: Wiktor Anne , Feldman Gerald L. , Kratkoczki Pamela , Ditmars Donald M. , Van Dyke Daniel L. 
Published: June 2005

AbstractWe describe a patient with severe failure to thrive, mild‐moderate developmental delay, cleft lip and palate, and other anomalies. Routine cytogenetic analysis documented a de novo chromosome rearrangement involving chromosome 4, but the origin of the derived material was unknown. Using chromosome specific painting probes, the karyotype was defined as 46,XY, der(4) t(4;10)(q35;p11.23). Characterization of the dup(10p) by fluorescence in situ hybridization (FISH) analysis provides another example of the usefulness of this technology in identifying small deletions, duplications, or supernumerary marker chromosomes. © 1994 Wiley‐Liss, Inc.
Apparently normal frequency of congenital anomalies in the highly polluted town of Cubatão, Brazil
Authors: Monteleone‐Neto Roque , Castilla Eduardo E. 
Published: June 2005

AbstractAnencephaly is Suspected to cluster in the municipality of Cubatão (Brazil), and is attributed to industrial pollution. We surveyed malformations prospectively in 10,000 births, in 3 consecutive series, corresponding to 3 maternity hospital in Cubatão, under working definitions and norms taken from the ECLAMC (Latin American Collaborative Study of Congenital Malformations). The sample from Cubatão had a higher proportion of black racial ancestry, and lower frequencies for stillbirths and for immediate neonatal death, than in the rest of South America.The birth prevalence of malformations varied between the 3 hospitals in Cubatão, due to differences in ascertainment of minor defects. A higher‐than‐expected prevalence rate in Cubatão was observed only for postaxial polydactyly, probably due to a higher proportion of black racial ancestry, while lower‐than‐expected rates were obtained for congenital dislocation of the hip, and for babies with multiple congenital anomalies patterns, both of them attributed to underascertainment of minor defects.These observations do not support the suspicion of an elevated birth prevalence rate for anencephaly, neural tube defects, or any other major congenital malformation in Cubatão. © 1994 Wiley‐Liss, Inc.
Male‐to‐male transmission of mild Bachmann‐de Lange syndrome
Authors: Chodirker Bernard N. , Chudley Albert E. 
Published: June 2005

AbstractWe report on a father and son with mild Brachmann‐de Lange syndrome. Previous reports have documented apparent autosomal dominant transmission; however, only one example of male‐to‐male transmission of possible Brachmann‐de Lange syndrome has been reported. This case provides further evidence of the existence of an autosomal dominant form of Brachmann‐de Lange syndrome. © 1994 Wiley‐Liss, Inc.
Aarskog‐Scott syndrome: Confirmation of linkage to the pericentromeric region of the X chromosome
Authors: Stevenson Roger E. , May Melanie , Arena J. Fernando , Millar Edward A. , Scott Charles I. , Schroer Richard J. , Simensen Richard J. , Lubs Herbert A. , Schwartz Charles E. 
Published: June 2005

AbstractAarskog‐Scott syndrome was tentatively mapped to Xq13 on the basis of an X:8 translocation by Bawle et al. [Am J Med Genet 17:595–602, 1984]. A review of the cytogenetics and the use of molecular markers in that family have resulted in revision of the breakpoints of the translocation to Xp 11.2 and 8q11.21 [Glover et al., Hum Mol Genet 2:1717–1718, 1993]. Two famillies including one of the two initial families with Aarskog‐Scott syndrome [Scott, BD:OAS VII (6): 240–246, 1971], have participated in our study to evaluate the localization of the gene for Aarskog‐Scott syndrome to the pericentromeric region of the X chromosome. Using a series of DNA probes, we have been able to confirm linkage to the X chromosome, with multipoint analysis indicating the most likely localization of the gene to be on the proximal short arm. © 1994 Wiley‐Liss, Inc.
Familial Angelman syndrome, with a crossover in the critical deletion region
Authors: Nelen M. R. , Van der Burgt C. J. A. M. , Nillesen W. N. , Vis A. , Smeets H. J. M. 
Published: June 2005

AbstractMore than two thirds of the patients with Angelman syndrome (AS) carry a deletion or other chromosomal abnormality in the 15q11–13 region. A much less frequent cause (4%) is paternal uniparental disomy of the entire chromosome. In general no abnormalities are detectable in familial cases and an inherited submicroscopic deletion was described only once. Here a familial case of 2 sibs with AS is reported. No major cytogenetic or molecular abnormality was identified, but a recombination event had occurred in the AS critical region. The AS locus, D15S113, D15S10, D15S11, and D15S18 mapped proximal and the GABRB3 gene, D15S97, the GABRA5 gene, and D15S12 distal to the crossover site. This recombination within the AS critical region confirmed the exclusion of GABRB3 as a candidate gene for AS. Other markers and candidate genes can be tested genetically as well for a possible role in AS. © 1994 Wiley‐Liss, Inc.
Poland anomaly with unusual associated anomalies: Case report of an apparent disorganization defect
Authors: Kabra Madhulika , Suri Mohnish , Jain Usha , Verma Ishwar C. 
Published: June 2005

AbstractWe report on a 2 1/2‐year‐old boy with absence of clavicular head of pectoralis major on the left side, ipsilateral upper limb anomalies, ans anomalies of the lower limbs such as popliteal webbing, median cleft of right foot, bifid left hallux, syndactyly of toes, and toenail hypoplasia. Other anomalies included undescended testis, hairy nevus in the lumbosacral region, and a pedunculated fingerlike tag on the right thigh. The pathogenesis of these associated anomalies cannot be explained on the basis of compromised local blood supply alone. A possible link with the disorganization mutation is discussed. © 1994 Wiley‐Liss, Inc.
Joubert syndrome with congenital hepatic fibrosis: An entity in the spectrum of oculo‐encephalo‐hepato‐renal disorders
Authors: Lewis S. M. E. , Roberts E. A. , Marcon M. A. , Harvey E. , Phillips M. J. , Chuang S. A. , Buncie J. R. , Clarke J. T. R. 
Published: June 2005

AbstractJoubert syndrome is an autosomal recessive inherited condition characterized by agenesis or hypoplasia of the cerebellar vermis, retinal dystrophy, chorioretinal colobomata, oculomotor abnormalities, episodic hyperpnea, ataxia, and mental retardation. Congenital hepatic fibrosis has not previously been described in Joubert syndrome. We report two unrelated children with Joubert syndrome and hepatosplenomegaly. On histopathological examination, both had congenital hepatic fibrosis. Both were also found to have congenital medullary cystic disease of the kidneys. Joubert syndrome appears to be one of a spectrum of congenital malformation syndromes involving the central nervous system, eye, liver and kidneys. © 1994 Wiley‐Liss, Inc.
Artistic and documentary evidence for tetradysmelia from sixteenth century England
Authors: Anderson Trevor 
Published: June 2005

AbstractA series of illustrative ballads provide evidence of tetradysmelia, including acheiropodia, from sixteenth century England. It is probable that the presented malformations represent the non‐genetic Hanhart complex. Such a condition has not been reported in archaeologically retrieved skeletal material. © 1994 Wiley‐Liss, Inc.
Identification of marker chromosomes in thirteen patients using FISH probing
Authors: Daniel Art , Malafiej Paul , Preece Kerrie , Chia Nicole , Nelson John , Smith Meryl 
Published: June 2005

AbstractFourteen marker chromosomes were studied by FISH (fluorescence in‐situ hybridization) in cytogenetic preparations from 13 patients. The derived markers were identified as one isodicentric bisatellited mar(22), one fragment sized r(X), one fragment sized r(Y), one i(18p), small autosomal ring markers in three different patients derived from chromosomes 2, 8, and 8, a marker comprised of 9p and part of 9qh, and 3 bisatel‐ lited apparently monocentric markers; one of each from chromosomes 13 or 21, 14 or 22, and 15. Two fragment sized small ring markers in one patient and a small ring marker in another were negative with all twenty‐two different probes used. In addition, the small ring marker Y chromosome that was found in a boy with karyotype 46, X,−Y,+mar was negative with both pDXZ1 and pDYZ3. This anomaly of negative results with the battery of centromeric alphoid probes can be explained if one breakpoint for some small ring markers is very near to or within the centromere. Only some of the pericentromeric repetitive sequences in the normal chromosome would be represented in the chromosome specific alphoid probes, and presumably those corresponding to the currently available probes are truncated during the formation of the unidentified markers. In three of the small ring markers the FISH signal on the marker was much stronger than on the normal homologues in various proportions of cells, and this may indicate that some of the fragment sized small rings were multicentric. The literature was reviewed for Distamycin A/DAPI negative small ring markers that were present as extra chromosomes. There were only single published cases of most small rings but there were three r(8) cases, two r(l) cases, two r(12) cases, and two r(20) cases, uncomplicated by the presence of other chromosome abnormalities. Most cases with similar small rings were quite dissimilar phenotypically and syndrome identification was not possible, but in pooled data, 18/23 (about 80%) were developmentally and/or phenotypically abnormal. Some patients (5/23, about 20%) with small rings were dysmorphic without intellectual handicap. Of 28 such patients with small ring markers (Distamycin/Dapi negative) in pooled data there are 6 (about 20%) with multiple markers mostly derived from different chromosomes. This is a very high figure and would suggest that the ring formation events, although involving different chromosomes, must be related and must be an indicator of the mechanism of origin of this group of markers. © 1994 Wiley‐Liss, Inc.
Microscopic neuroblastoma in a fetus with a de novo unbalanced translocation 3;10
Authors: Qureshi Faisal , Jacques Suzanne M. , Johnson Mark P. , Reichler Avihai , Evans Mark I. 
Published: June 2005

AbstractWe report on a fetus with a de novo unbalanced translocation 3;10 and a microscopic neuroblastoma. The fetus had the kary‐otypic and phenotypic manifestations of partial dup (3q). The finding of a constitutional chromosomal abnormality and a microscopic neuroblastoma, although possibly coincidental, supports Knudson's two hit hypothesis for development of neuroblastomas and other embryonal tumors. In this case the first mutation is represented by the constitutional abnormality, possibly resulting in the microscopic neuroblastoma. A second mutation affecting the abnormal cells, which may be more prone to mutagenesis, may trigger a neuroblastoma. © 1994 Wiley‐Liss, Inc.