bluuebunny/crossref_metadata_2025_split huggingface dataset:
Xp22.3 Microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects
Authors: Lindor Noralane M. , Michels Virginia V. , Hoppe Daniel A. , Driscoll David J. , Leavitt Jacqueline A. , Dewald Gordon W. 
Published: June 2005

AbstractWe report on an infant girl with congenital erythematous, linear skin lesions on face and neck, bilateral microphthalmia, sclerocornea, cataracts, and a complex cardiac anomaly including atrial septal and ventricular septal defects. This patient had an Xp22.3 microdeletion and a chromosome satellite on the abnormal X p‐arm. The abnormal X chromosome was late replicating in peripheral blood lymphocytes and cultured skin fibroblasts. Four other patients with similar congenital anomalies and Xp deficiency have been reported previously and are compared with this patient. One patient had an interstitial or terminal deletion, but in others the material translocated to Xp22.3 was variable (Yq material in two patients, and Yp material and an unidentifiable satellite in one patient each). Several mechanisms are suggested by which this chromosome abnormality might produce this phenotype in these patients. Our patient is the first with this syndrome to have a congenital heart defect. © 1992 Wiley‐Liss, Inc.
Assessment of body composition in the prader‐willi syndrome using bioelectrical impedance
Authors: Davies Peter S. W. , Joughin C. 
Published: June 2005

AbstractThe accurate assessment of body composition is of importance in the Prader‐Willi syndrome. Many techniques are not applicable due to ethical or practical reasons. However, the bioelectrical impedance technique is a rapid, painless, noninvasive method of estimating total body water and hence, fat‐free mass in obese children and adolescents.We have compared estimates of total body water derived from bioelectrical impedance with actual measurements taken, using H218O dilution, in 14 children with Prader‐Willi syndrome.Existing equations for predicting total body water from impedance showed a bias to underestimate actual measures of body water. There were positive correlations between the degree of underestimation with age and body fatness.It is possible that changes in body shapes influence bioelectrical impedance measurements in obese individuals, and that a prediction equation based upon a normal population will not be applicable to obese individuals. © 1992 Wiley‐Liss, Inc.
Beare‐Stevenson cutis gyrata syndrome
Authors: Hall Bryan D. , Cadle Ronald G. , Golabi Mahin , Morris Colleen A. , Cohen M. Michael 
Published: June 2005

AbstractBeare‐Stevenson cutis gyrata syndrome consists of skin furrows of corrugated appearance, acanthosis nigricans, craniotacial anomalies, particularly craniosynostosis and ear defects, anogenital anomalies, skin tags, and prominent umbilical stump. Four cases of this striking syndrome are reported. Together with two previously reported cases, the syndrome is delineated from the six known cases. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. Craniosynostosis is present in four cases, with cloverleaf skull in three of these. Intrauterine growth has been normal in all cases. Performance and life expectation appear to be related to the presence or absence of cloverleaf skull. All cases observed to date have been sporadic. Increased paternal age suggests the possibility of an autosomal dominant mutation. © 1992 Wiley‐Liss, Inc.
DNA‐Testing for Huntington's disease in The Netherlands: A retrospective study on psychosocial effects
Authors: Tibben Aad , Vlis Maria Vegter‐Van Der , Skraastad Mette I. , Frets Petra G. , Van Der Kamp Jacques J. P. , Niermeijer Martinus F. , Van Ommen Gert‐Jan B. , Roos Raymund A. C. , Rooijmans Harry G. M. , Stronks Dick , Verhage Frans 
Published: June 2005

AbstractPresymptomatic DNA‐testing for Huntington's disease has made it possible to predict whether or not at‐risk individuals are gene‐carriers with a reliability of about 98%.In our retrospective study of 18 tested individuals, most of the newly identified carriers function apparently well. They use avoidance and repression of affect as psychological defense strategies. However, 8 out of 9 non‐carriers do not experience the expected relief about their test results. They experience survivor guilt and emotional numbness and find it difficult to cope with the effects of the test results on the family system. The partners of gene‐carriers are at risk of becoming emotionally isolated by putting aside their own feelings for fear of seeming self‐centered. Appreciation of these effects on tested individuals is important and professional support is needed to prevent post‐traumatic stress disorders. Whatever the test result may be, the working through process may take years rather than months. These findings have important implications for patient care and necessitate an extended period of observation after presymptomatic testing. © 1992 Wiley‐Liss, Inc.
Reproductive decision making of aunts and uncles of a child with cystic fibrosis: Genetic risk perception and attitudes toward carrier identification and prenatal diagnosis
Authors: Denayer L. , Evers‐Kiebooms G. , De Boeck K. , Berghe H. Van Den 
Published: June 2005

AbstractThis paper evaluates the perceived genetic risk, the perceived burden, the impact on reproductive decision making, and the attitudes of aunts and uncles of a child with cystic fibrosis toward carrier identification, prenatal diagnosis, and pregnancy termination. A mailed questionnaire was sent to the aunts and uncles of 32 CF children (1) who attended the Paediatric Department of the University Hospital and (2) whose parents agreed to give the names and addresses of their sibs. The results for the 109 respondents aged less than 40 years are discussed. About one‐fourth of them was aware of the “approximate” level of the risk to be a carrier of the CF gene and/or of the risk of having a CF child themselves. Nevertheless the subjective evaluation of the genetic risk has played a part in the reproductive decision‐making process of at least 39% of the respondents. About three‐fourths would (probably) make use of heterzygote detection and would (probably) ask for prenatal diagnosis should they become pregnant. It is striking that less than half of the group would interrupt the pregnancy should the fetus be affected. The intention to use prenatal diagnosis was significantly correlated with age and educational level while the acceptance of pregnancy interruption was significantly correlated with perceived burden, respondents' age, and health situation of the proband. © 1992 Wiley‐Liss, Inc.
Cytogenetic and molecular analysis in Angelman syndrome
Authors: Zackowski J. L. , Nicholls R. D. , Gray B. A. , Bent‐Williams A. , Gottlieb W. , Harris P. J. , Waters M. F. , Driscoll D. J. , Zori R. T. , Williams C. A. 
Published: June 2005

AbstractWe report on cytogenetic and molecular analysis of 29 Angelman syndrome (AS) individuals ascertained in 1990 through the first National Angelman Syndrome Conference. High resolution GTG‐ and GBG‐banded chromosomes were studied. Standard molecular analysis with six 15q11q13 DNA sequences was used to analyze copy number and parental origin of 15q11q13. Concordance between molecular and cytogenetic data was excellent. The combind data showed that 23 of the 27 probands (85%) on whom we had definitive results have deletions of the chromosome 15q11q13 region. Two classes of deletion were detected molecularly: most patients were deleted for the 5 more proximal probes, but in 2 cases the deletion extended distally to include in sixth probe. In the 13 cases where the parental origin of the deleted chromosome 15 could be established, it was maternal. There were no cases of uniparental disomy. Cytological observations of the relative sizes of the heterochromatic regions of the short arm of chromosome 15 suggested that chromosomes with large heterochromatic blocks may be more prone to de novo deletion. © 1993 Wiley‐Liss, Inc.
Angelman and Prader‐Willi syndrome: A magnetic resonance imaging study of differences in cerebral structure
Authors: Leonard Christiana M. , Williams Charles A. , Nicholls Robert D. , Agee O. Frank , Voeller Kytja K. S. , Honeyman Janice C. , Staab Edward V. 
Published: June 2005

AbstractRecent improvements in magnetic resonance imaging techniques now allow the developing brain to be visualized in sufficient detail to perform “in vivo neuropathology.” In this study we compared the cortical morphology in six children with Angelman and four with Prader‐Willi syndrome. These two syndromes are of especial interest because, although they are both caused by deletions in the same region of chromosome 15, Angelman children are far more severely affected, and do not speak. We measured the length of the banks of the Sylvian fissure in a gapless series of thin sagittal images. Angelman children had a significantly larger proportion (75%) of anomalous fissures than the Prader‐Willi children (12%). Anomalous cortical growth could result from mistimed expression and recognition of macromolecules involved in axonal guidance, target recognition, and pruning. We hypothesize that misrouting of long projection axons may be related to the Sylvian fissure anomalies and the language disorder in Angelman syndrome. © 1993 Wiley‐Liss, Inc.
Communication, cognition, and social interaction in the Angelman syndrome
Authors: Penner Kandace A. , Johnston Joy , Faircloth Barbara H. , Irish Patricia , Williams Charles A. 
Published: June 2005

AbstractPersons with Angelman syndrome (AS) have mental retardation epilepsy, and a characteristic “puppet‐like” gait. Behaviorally, they are distinctive because they have no speech and have excessive laughter. A speech and communication evaluation of 7 persons with AS was performed to provide improved understanding of the speech deficit. Assessments included prelanguage and language development, oral motor abilities, and cognitive and social interaction skills. Results indicate that the typical lack of speech may not be due to mental retardation alone. Oral motor dyspraxia, and deficits in social interaction and attention were characteristic of AS and contributed to the lack of speech. © 1993 Wiley‐Liss, Inc.
Trisomy 22 and facioauriculovertebral (Goldenhar) sequence
Authors: Kobrynski Lisa , Chitayat David , Zahed Laila , McGregor David , Rochon Louise , Brownstein Seymour , Vekemans Michael , Albert Darren L. 
Published: June 2005

AbstractWe report on an infant girl born with complete trisomy 22 and left hemifacial microsomia, ear anomaly and limbal and epibulbar complex choristoma. Trisomy 22 was confirmed by prometaphase chromosome analysis and in situ hybridization. This patient extends the list of chromosome abnormalities associated with apparent Goldenhar sequence and emphasizes the importance of chromosome analysis in the investigation of patients with this condition. A detailed ophthalmopathological investigation is reported. © 1993 Wiley‐Liss, Inc.
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics
Authors: Wyandt Herman E. , Milunsky Jeffrey , Lerner Terry , Gusella James F. , Hou Alexander , MacDonald Marcy , Adekunle Soloman , Milunsky Aubrey 
Published: June 2005

AbstractAn infant with multiple anomalies including small head, Large apparently low‐set ears, beaked nose, micrognathia, choanal stenosis, proptosis, atrial‐septal defect, and left inguinal hernia was found, on chromosome analysis, to have a longer than normal terminal band 4p16 by G and R‐banding. In situ hybridization of biotin‐labeled DNA probes C39, BJ14, BJ54, BJ19, BJ7, and BJ11 showed them to be duplicated. Probes I14, A157.1, and the telomeric sequence, (TTAGGG)n, which hybridized to the more distal part of 4p16.3, were not duplicated. These result confirm the impression by G and R‐banding of a duplication within band 4p16, a region extending from approximately 2.1 Mb from the telomere, proximally, to the junction of 4p16.1 and 4p15.3. This is the smallest confirmed duplication of distal 4p reported to date, with many of the classical findings of dup(4p) syndrome. © 1993 Wiley‐Liss, Inc.
Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization
Authors: Bernstein Renee , Bocian Maureen E. , Cain Mary J. , Bengtsson Ulla , Wasmuth John J. 
Published: June 2005

AbstractFluorescent in situ hybridization (FISH) identified a cryptic balanced reciprocal translocation in the mother of an infant with the cri‐du‐chat syndrome. A biotinylated probe from a flow‐sorted chromosome 5 cosmid library was used to show the distal deletion of 5p15.2 in the propositus and a translocation of this segment to the distal end of 7 at 7p21 in his mother. In a subsequent pregnancy, the fetus was shown to have normal chromosomes using the same 5 cosmid library probe and a locus‐specific probe derived from the 5p15.3 region. The importance of incorporating FISH into the routine diagnostic laboratory is discussed. © 1993 Wiley‐Liss, Inc.
Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3→q31.3)
Authors: Jeziorowska Anna , Ciesla Wlodzimierz , Houck George E. , Yao Xiu‐Lan , Harris Marsha S. , Truszczak Barbara , Skorski Maria , Jakubowski Lucjusz , Jenkins Edmund C. , Kaluzewski Bogdan 
Published: June 2005

AbstractWe report on a 3‐year‐old boy with moderate developmental retardation, microcephaly, and malformations of ears, lids, mouth, and thumbs. Cytogenetic analysis demonstrated a direct duplication of chromosome subregion 4(q21.3→q31.3). Confirmation of this specific rearrangement was performed by fluorescent in situ hybridization (FISH) with a chromosome painting probe and by means of quantitative Southern hybridization with DNA probes localized within the chromosome 4 region presumed to be duplicated. © 1993 Wiley‐Liss, Inc.
Trisomy 22 confirmed by fluorescent in situ hybridization
Authors: Stratton Robert F. , DuPont Barbara R. , Mattern Vicki L. , Young Robert S. , McCourt James W. , Moore Charleen M. 
Published: June 2005

AbstractWe report on a newborn girl with multiple congenital anomalies, whose G‐banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole‐chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation. © 1993 Wiley‐Liss, Inc.
Co‐occurrence of schizophrenia and Treacher Collins syndrome
Authors: Nimgaonkar V. L. , Scott J. A. , Brar J. S. , Ganguli R. , Chakravarti A. 
Published: June 2005

AbstractThis is the first report of an individual with several congenital abnormalities, including those suggestive of Treacher Collins syndrome, and an atypical schizophrenic illness. Cytogenetic studies have failed to detect any recognizable chromosomal abnormality. © 1993 Wiley‐Liss, Inc.
Male siblings with schizophrenia share alleles at the androgen receptor above chance expectation
Authors: Crow T. J. , Poulter M. , Lofthouse R. , Chen G. , Shah T. , Bass N. , Morganti C. , Vita A. , Smith C. , Boccio‐Smith A. , Shields G. , Delisis L. E. 
Published: June 2005

AbstractIn families that included two or more siblings with schizophrenia or schizo‐affective disorder male‐male pairs were found to share alleles at the androgen receptor (AR) gene (in Xq11.2‐q12) above chance expectation (p < 0.003); female‐female and mixed sex pairs showed no such tendency. The findings are compatible with X‐Y linkage or with an X‐linked contribution to liability in males. © 1993 Wiley‐Liss, Inc.
Failure to find linkage between schizophrenia and genetic markers on chromosome 21
Authors: Asherson P. , Mant R. , Taylor C. , Sargeant M. , Collier D. , Clements A. , Nanko S. , Whatley S. , Gill M. , McGuffin P. , Owen M. 
Published: June 2005

AbstractWe sought evidence for the involvement of mutations in the amyloid precursor protein gene (APP) in the pathogenesis of schizophrenia in two ways. First, linkage analysis was performed in a sample of 24 families multiply affected with schizophrenia. The genotypes were studied for GT12 (D21S210), a highly polymorphic microsatellite marker at the APP locus. Second, we used single strand conformation analysis (SSCA) to screen for mutations in exon 17 of APP in one affected member from each family and in a sample of 44 unrelated patients. In addition, we looked for linkage between schizophrenia and a series of higly polymorphic markers situated at approximately 20cM intervals along the long arm of chromosome 21. We were unable to find evidence for linkage to GT12 or the other markers studied. SSCA did not reveal any mutations in exon 17 of APP. We conclude that mutations within APP are an unlikely cause of schizophrenia. Moreover, this study provides no evidence for a major gene for schizophrenia on chromosome 21, and linkage can be excluded from much of this region under some genetic models. © 1993 Wiley‐Liss, Inc.
Variant cytochrome P450 CYP2D6 allelic frequencies in Parkinson's disease
Authors: Kurth Matthias C. , Kurth Janice H. 
Published: June 2005

AbstractAberrant detoxification of environmental agents may be the basis for an inherited predisposition to Parkinson's disease. A CYP2D6 genetic marker of the debrisoquine hydroxylase “poor metabolizer” phenotype was found to be significantly increased in Parkinson's disease patients compared to controls, as has been shown in previous studies. Presence of this marker gives an odds ratio of 1.86 for Parkinson's disease (95% confidence interval 1.33–2.39, P < 0.02). For comparison, a CYP1A1 polymorphism, which is not known to be associated with aberrant drug metabolism, showed no association with Parkinson's disease in our study. © 1993 Wiley‐Liss, Inc.
Spina bifida and hypospadias: A non random association or an X‐linked recessive condition?
Authors: Martínez‐Frías María Luisa 
Published: June 2005

AbstractHere we describe a statistically significant association between hypospadias and spina bifida. This association was identified through the (Spanish Collaborative Study of Congenital Malformations (ECEMC), where the observed number of cases was greater (P < 0.0005) than expected just by chance among males. We also detected a pair of concordant twins who had monochorial monoamniotic placenta. To the best of our knowledge, this is the first report of this combination of defects, consequently it must be confirmed whether this statistic association is an entity. © 1994 Wiley‐Liss, Inc.
Deletion of the short arm of chromosome 10 (10p13): Report of a patient and review
Authors: Shapira Moshe , Borochowitz Zvi , Bar‐El Hanna , Dar Hanna , Etzioni Amos , Lorber Avraham 
Published: June 2005

AbstractSince the first description by Elliot et al. [1970, Am J Dis Child 119:72–73] of a probable partial deletion of chromosome 10p, 17 other cases have been reported. The phenotypic expression is variable, but the craniofacial malformations constitute a more consistent finding. The 10p deletion syndrome has been associated with the DiGeorge anomaly in several patients. We report on an additional case of 10p deletion syndrome and review the literature. © 1994 Wiley‐Liss, Inc.
De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations
Authors: Shapira Steuart K. , Anderson Kent L. , Orr‐Urtregar Avi , Craigen Willaim J. , Lupski James R. , Shaffer Lisa G. 
Published: June 2005

AbstractWe report on 2 unrelated patients who had chromosome analysis performed because of psychomotor delay, Failure to thrive, and minor anomalies. Each patient had a novel proximal 14q deletion (q11.2 to q21.1 in patient 737 and q12 to q22 in patient 777). Polymorphic (C‐A)n microsatellite markers distributed along the length of chromosome 14q were examined in both patients and their parents in order to determine which marker loci were deleted. The deletion in patient 737 was found to be paternal in origin, based on the analysis of 2 marker loci (D14S54 and D14S70), thus assigning these loci to the deleted interval q11.2 q21.1. Furthermore, 3 loci were not deleted (TCRD, D14S50, and D14S80), suggesting that they are within or proximal to 14q11.2. In the other family (patient 777), none of the markers were fully informative, but the deleted chromosome was determined to be paternally derived based on cytogenetic heteromorphisms. Despite having overlapping proximal 14q deletions, these 2 patients shared few phenotypic similarities except for failure to thrive, micrognathia, and hypoplasia of the corpus callosum. Therefore, a distinct proximal 14q deletion syndrome is not yet apparent. However, the molecular analyses facilitated the localization of several 14q DNA markers to the deletion regions in these 2 patients, while excluding other markers from each deletion. © 1994 Wiley‐Liss, Inc.
FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype
Authors: Chu Thomas W. , Teebi Ahmad S. , Gibson Lisa , Breg W. R. , Yang‐Feng Teresa L. 
Published: June 2005

AbstractAn infant girl with manifestations resembling Opitz trigonocephaly (C) syndrome who died at age 6 days was found to have a complex chromosome abnormality with t(13;18)(q22;q23) and a recombinant chromosome 13 involving duplicated segments of 13q. Precise characterization was possible with the application of fluorescence in situ hybridization (FISH) using chromosome specific probes. The patient's phenotype is compared to that of other syndromes involving trigonocephaly. © 1994 Wiley‐Liss, Inc.
Epididymal compounds and their influence on the metabolism and survival of spermatozoa
Authors: White I. G. 
Published: June 2005

AbstractEpididymal fluid, which is derived from testicular fluid, contains several unusual compounds. Little information is available on the composition of the testicular fluid of primates, but the fluid of the ram, bull, boar, and rat contains high concentrations of inositol and certain amino acids.Analyses have been made of epididymal fluid collected from the cauda epididymis of the Rhesus monkey and several nonprimate species (e.g., ram, bull, dog, stallion, rabbit, guinea pig, rat, and hamster), but similar information on the human is lacking. Cauda epididymal fluid appears to be similar in composition from one mammalian species to another. However, the epididymal plasma differs considerably from blood, lymph, and other extracellular fluids. The environment of spermatozoa in the epididymis is, therefore, highly specialized, and presumably in some way contributes to the prolonged survival of spermatozoa in this organ, and provides substrates for the metabolism of the spermatozoa.The chief characteristics of the cauda epididymal plasma are the low concentration of inorganic ions and the high levels of several unusual organic constituents namely, glycerylphosphorylcholine, carnitine, sialic acid, amino acids, glycosidases, and phosphatases.At least one antifertility compound, namely, orally administered α‐chlorohydrin, appears to be concentrated in the epididymis. Studies on laboratory animals, domestic species, and man, suggest that it inhibits enzymes of the glycyolytic pathway in spermatozoa, and this may be the basis for its antifertility activity.