bluuebunny/crossref_metadata_2025_split huggingface dataset:
Five years experience of predictive testing for myotonic dystrophy using linked DNA markers
Authors: Reardon W. , Floyd J. L. , Myring J. , Lazarou L. P. , Meredith A. L. , Harper P. S. 
Published: June 2005

AbstractWe report on a 5 year experience in providing presymptomatic and prenatal molecular diagnostic services for myotonic dystrophy, using closely linked markers, representing 235 completed results in 161 families. Only 10 analyses (4.3%) proved uninformative, but a further 5 requests (1.9%) could not be reported because of uncertainty in clinical status. Seven of 81 (8.6%) patients considered to be at low risk on clinical grounds were found to be at high risk of carrying the gene. The importance of interpreting molecular results in conjunction with clinical findings is emphasised by the illustrative examples provided. Careful clinical examination and appropriate investigation remain a cornerstone of diagnosis in myotonic dystrophy and are crucial if errors in assigning genotype status by molecular means are to be minimised. © 1992 Wiley‐Liss, Inc.
Can maternal risk factors influence the presence of major birth defects in infants with Down syndrome?
Authors: Khoury Muin J. , Erickson J. David 
Published: June 2005

AbstractAlthough the manifestations of Down syndrome (DS) are well known, certain major birth defects such as duodenal atresia and endocardial cushion defects are present in some infants but not others, suggesting the possible role of other genetic or environmental factors interacting with the trisomy genotype. To explore the possible role of maternal factors in the presence of major defects among DS infants, we examined data from an epidemiologic study of DS conducted in metropolitan Atlanta. Of 219 DS infants born between 1968 and 1980, 50 had recorded cardiac defects, 9 had selected gastrointestinal atresias and 4 had oral clefts. We evaluated the association of these defects with several maternal factors including age, race, first trimester cigarette smoking, alcohol use, and fever. We found that different maternal factors were associated with several defects: (1) mother's race with cardiac defects (40% in blacks vs. 17% in whites, P < 0.01), (2) mother's age with oral clefts (6% for < 25 years, 1% for 25–34, and 0% for > 34, P< 0.05), and (3) maternal first trimester fever with gastrointestinal defects (15% in infants with history of fever and 3% in infants without a histroy of fever, P < 0.01). We also observed an inverse relationship between maternal alcohol use and the presence of ventricular septal defect. These findings suggest that maternal risk factors may influence the clinical manifestations of DS. In addition to searching for a genetic basis for the DS phenotype, we suggest that the role of environmental factors and maternal exposures be specifically explored in clarifying the genesis of various birth defects in Down syndrome. © 1992 Wiley‐Liss, Inc.
Upper and lower airway compromise in the apert syndrome
Authors: Cohen M. Michael , Kreiborg Sven 
Published: June 2005

AbstractBoth upper and lower airway compromise may be responsible for early death in some patients with the Apert syndrome. We report on two and review six cases with complete or partial cartilage sleeve abnormalities of the trachea. Possible mechanisms include tracheal stenosis and/or lack of tracheal distensibility which may result in respiratory inefficiency, inability to clear secretions, and/or increased liability to surface injury from tracheal suctioning. Upper airway compromise, consisting of obstructive sleep apnea and cor pulmonale, may result from reduced nasopharyngeal and oropharyngeal dimensions in the Apert craniofacial configuration. © 1992 Wiley‐Liss, Inc.
Deletion of the hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II
Authors: Beck Michael , Steglich Cordula , Zabel Bernhard , Dahl Niklas , Schwinger Eberhard , Hopwood John J. , Gal Andreas 
Published: June 2005

AbstractHunter syndrome is an X‐linked mucopoly‐saccharidosis due to deficiency of the lysosomal enzyme iduronate‐2‐sulfatase (IDS). A cDNA clone containing the entire coding region of the human IDS gene, mapped in Xq28, has been used as molecular probe to study a patient with Hunter syndrome. A submicroscopic deletion has been detected that spans the IDS gene as well as DXS466 and DXS304, 2 loci mapped probably not more than 900 kb from the IDS locus. A detailed clinical description of the patient is provided and his phenotype is compared to that of other patients with IDS deletion described recently. By following the segregation of a restriction fragment length polymorphism at the IDS locus in the patient's family, our data suggest that the deletion occurred in the germ cells of the patient's grandfather. © 1992 Wiley‐Liss, Inc.
Genomic imprinting and uniparental disomy in Angelman and Prader‐Willi syndromes: A review
Authors: Nicholls Robert D. 
Published: June 2005

AbstractAlthough Angelman (AS) and Prader‐Willi (PWS) syndromes are human genetic disorders with distinctly different developmental and neurobehavioural phenotypes, they both have abnormalities in inheritance of chromosome 15q11–q13. Whether AS or PWS arises depends on the parental origin of a deletion or uniparental disomy (the inheritance of 2 copies of a genetic locus from only one parent) for 15q11–q13. Normal development requires a genetic contribution for this genetic region from both a male and female parent. The dependence on parental origin implies that genes in human 15q11–q13 have distinct functions depending upon epigenetic, parent‐of‐origin differences, known as genomic imprinting. Here, I review the role of uniparental disomy and genomic imprinting in the pathogenesis of AS and PWS, and briefly discuss phenotype‐genotype correlations using candidate genes and mouse models, in particular for hypopigmentation. © 1993 Wiley‐Liss, Inc.
Hypopigmentation in Angelman syndrome
Authors: King Richard A. , Wiesner Georgia L. , Townsend Dewayne , White James G. 
Published: June 2005

AbstractChromosome region 15q is thought to contain one or more genes that are important for melanin pigment synthesis in the hair, skin, and eyes. Hypopigmentation has been identified in the Prader‐Willi (PWS) and Angelman (AS) syndromes. We have examined 6 individuals with AS to further characterize the pigment pattern in this condition. The age of the 5 girls and one boy ranged from 2.4 to 7.0 years. None has obvious albinism. Hair color ranged from light blond to brown. Skin was type I in 3 and type II in 3. Eye changes included nystagmus in 2, strabismus in 4, and reduced retinal pigment in 5. The mean hairbulb tyrosinase activity was 0.37 ± 0.44 pmol/hb/120 min for the individuals with AS, with a range of 0.00 to 1.13 (normal brown control 1.49 ± 0.79, normal blond control 1.50 ± 0.85). Electron microscopic examination of hairbulb melanocytes showed normal melansome and melanocyte architecture and number, but reduced melanin formation, with many stage II and III premelanosomes but few stage IV fully melanized melanosomes. Hypopigmentation characterized by light skin, reduced retinal pigment, low hairbulb tyrosinase activity, and incomplete melanization of melanosomes is part of the phenotype of AS, and is similar to that found in PWS. © 1993 Wiley‐Liss, Inc.
46, XX, 15p+ documented as dup (17p) by fluorescence in situ hybridization
Authors: Spinner Nancy B. , Biegel Jaclyn A. , Sovinsky Lorraine , McDonald‐McGinn Donna , Rehberg Kim , Parmiter Annette H. , Zackai Elaine H. 
Published: June 2005

AbstractWe report on a patient with a complex heart defect, short webbed neck, multiple other minor features, and a 46,XX,15p+ de novo karyotype. The enlarged short arm of the chromosome 15 was Distamycin‐DAPI and C‐band negative. Fluorescence in situ hybridization (FISH) using an alpha satellite probe from chromosome 15 demonstrated hybridization only to the normal 15. In situ hybridization using a set of probes that bind to the short arm (17p13) and centromere of chromosome 17 demonstrated that the extra material on chromosome 15, including the centromere, was derived from chromosome 17. Therefore, this patient has a duplication of the centromere and short arm of chromosome 17. Clinical manifestations in this patient were consistent with those in previously described patients with dup (17p). © 1993 Wiley‐Liss, Inc.
Molecular characterization of a complex translocation in a newborn infant
Authors: Verma R. S. , Conte R. A. , Macera M. J. , Khan A. S. S. I. , Hebi S. , Masoud A. A. , Zaman A. Al , Bader M. Al 
Published: June 2005

AbstractA newborn infant was referred because of low‐set ears, mild downward slant of the palpebral fissues, micrognathia with higharched palate, a flat midface, small mouth, and thin upper lip with cupid bow configuration. To some extent her cry resembled that associated with cri du chat syndrome.Cytogenetic findings with G‐ and Q‐banding alone failed to characterize precisely the complex translocations. By the chromosome in situ suppression (CISS) hybridization technique using whole chromosome specific probes, a complex 4 breakpoint rearrangement involving both arms of a single chromosome 1 with the long arms of chromosome 5 and 11 was disclosed, i.e., 46,XX, der(1),t(1;5) t(1;11) (5qter→5q31::1p31.3→1q44::11q23→11qter;5pter→5q31::1p31.3→1pter;11pter→11q23::1q44→1qter). Gene deregulation and position effect may explain the multiple anomalies in individuals with apparently balanced translocations may shed some light towards unveiling the clinical consequences associated with aberrations which are presumably balanced. © 1993 Wiley‐Liss, Inc.
Presymptomatic DNA testing for Huntington disease: Identifying the need for psychological intervention
Authors: Tibben Aad , Duivenvoorden Hugo J. , Vegter‐van der Vlis Maria , Niermeijer Martinus F. , Frets Petra G. , van de Kamp Jacques J. P. , Roos Raymund A. C. , Rooijmans Harry G. M. , Verhage Frans 
Published: June 2005

AbstractIn the Dutch presymptomatic DNA‐testing program for Huntington disease (HD), 29 individuals with increased risk and 44 with decreased risk were followed‐up 6 months after test results. A prognostic model was built aimed at identifying individuals at risk for psychological maladjustment, as measured by the Impact of Event Scale, the Beck Hopelessness Scale, the General Health Questionnaire, and the Social Support Questionnaire. Results: 1) The more that applicants suffered from intrusive feelings about HD and tried to avoid HD‐related situations, prior to the test, the greater the chance that they will experience this 6 months after the test if they proved to be at increased risk; 2) the more that both individuals with increased risk and those with decreased risk who suffered from the threat of having HD tried to avoid HD‐related situations prior to the test and the less satisfied they were with available support, the greater the probability that they will show avoidance behavior after the test; 3) the more pessimistic that individuals with increased risk as well as those with decreased risk were about their future prior to the test, the more they avoided HD‐related situations and the more dissatisfied they were about their available support (pretest), the greater the probability that they will become depressive and suicidal. Psychological adjustment was also studied as a function of a) intrusion/denialavoidance pattern over time and b) healthy mental functioning/future expectancies. Most individuals with increased risk (86%) seem to cope well thus far, although this was based largely on strong psychological defenses and dependent on satisfactory relationships. Five individuals with increased risk (17%) had either health complaints and/or extreme pessimistic expectancies. They were not able to face the consequences of the test result and showed an increase of denial‐avoidance behavior thereafter.Seven out of 9 individuals with decreased risk, identified as possible psychopathological cases with pessimistic expectancies, had less intrusive feelings than prior to the test. This group could later develop severe problems with detachment from their previous life style and also with adapting to their new genetic status.We conclude that DNA‐testing has shown benefits for most tested individuals. However, a considerable number are at risk for maladjustment and should be offered additional help. Further studies as to whether the strong defenses in individuals with increased risk safeguard adequate adjustment in the long term should be undertaken. © 1993 Wiley‐Liss, Inc.
Pseudoautosomal region in schizophrenia: Sex concordance of the affected sibpairs and the association study with DNA markers
Authors: Ishida Toru , Yoneda Hiroshi , Sakai Toshiaki , Nonomura Yasuhiro , Inayama Yasuhiro , Kono Yoshihiro , Kobayashi Shin‐Ichi 
Published: June 2005

AbstractTo test a hypothesis that the pseudoautosomal region of the sex chromosomes contributes to the pathogenesis of schizophrenia, we carried out the following studies: First, the sex concordant rates of 77 schizophrenic sibpairs were examined. Secondly, 46 schizophrenic patients and 150 healthy controls were tested for association with DXYS17, DXYS20, DXYS28, and MIC2 in the pseudoautosomal region.Sex concordant rates in sibpairs with schizophrenia were not higher than would be expected by chance. No significant associations were found between four DNA markers we tested and schizophrenia. These results did not support the hypothesis; however, linkage disequilibrium can only be detected if the marker and trait loci are located close enough. Linkage analyses in multiplex families need to be carried out before ruling out this region as a location for a gene for schizophrenia. © 1993 Wiley‐Liss, Inc.
Neuropsychological impairment in 42 adolescents with sex chromosome abnormalities
Authors: Bender Bruce G. , Linden Mary G. , Robinson Arthur 
Published: June 2005

AbstractSixty‐seven adolescents participated in this protocol, including 42 with sex chromosome abnormalities and 25 controls. Results from a battery of neuropsychological tests indicated karyotype specific patterns of neuropsychological impairment: (1) 47,XXY boys had unimpaired intelligence but reduced abilities in verbal fluency and reading; (2) 47,XXX girls experienced reduced general intelligence accompanied by impaired scores on individual tests of attention, concept formation, spatial thinking, verbal fluency, and academic skills, while retention of memorized information was a relative strength; (3) among the 45,X girls average intelligence level was also reduced along with scores on tests of attention, concept formation, verbal fluency, spatial thinking, and academic skills, and an atypical pattern of hand dominance was identified; (4) test scores in the group of mosaic females did not differ from those of controls. Test scores and patterns of personal adaptation were quite variable in all groups; while eight nonmosaic propositi required intensive special education assistance in their public schooling, eight others have attended college.© 1993 Wiley‐Liss, Inc.
Desbuquois syndrome: Clinical, radiographic, and morphologic characterization
Authors: Shohat Mordechai , Lachman Ralph , Gruber Helen E. , Hsia Y. Edward , Golbus Mitchell S. , Witt David R. , Bodell Adria , Bryke Christine R. , Hogge W. Allen , Rimoin David L. 
Published: June 2005

AbstractTo further characterize the clinical, radiographic and chondro‐osseous morphologic changes in the Desbuquois syndrome, 7 patients from three sibships are described. They all had prenatal onset severe rhizomelic and mesomelic shortness with marked joint laxity and marked micrognathia. Radiographic changes were distinct, consisting of a supernumerary ossification center between the proximal phalanx of the index finger and the second metacarpal, and variable thumb changes. The femoral necks showed enlargement of the lesser trochanter with metaphyseal beaking, producing a characteristic “monkey wrench” (Swedish key) appearance. Growth plate cartilage showed dilated cisterns of rough endoplasmic reticulum in reserve zone chondrocytes. Three of the 7 cases were diagnosed prenatally by second trimester ultrasound and one case by fetoscopy. This syndrome exhibits significant phenotypic variability and must be differentiated from the Catel‐Manzke syndrome which exhibits similar radiographic changes in the hands. © 1994 Wiley‐Liss, Inc.
Gonadal agenesis in XX and XY sisters: Evidence for the involvement of an autosomal gene
Authors: Mendonça Berenice B. , Barbosa Ǎngela S. , Arnhold Ivo J. P. , McElreavey Ken , Fellous Marc , Moreira‐Filho Carlos A. 
Published: June 2005

AbstractTwo agonadic sisters, one with a 46,XY and the other with a 46,XX karyotype, both with normal female external genitalia and hypoplastic Müllerian derivatives, born to a consanguineous marriage, were studied from a clinical, endocrinological, histological, and genetic perspective. Using PCR amplification, Southern hybridization, and DGGE analysis, it was found that the XY patient had no mutations in the conserved sequence of the SRY gene, the putative testis‐determining gene in mammals, whereas her XX affected sister is SRY‐negative. To our knowledge, this is the first report of XY and XX sibs in familial gonadal agenesis without other somatic abnormalities. The involvement of an autosomal locus impeding gonadal development in both sexes is discussed. © 1994 Wiley‐Liss, Inc.
New dominant syndrome of pterygium colli, mental retardation, and digital anomalies
Authors: Khalifa M. M. , Graham G. 
Published: June 2005

AbstractWe describe a proband and his mother who appear to have a new dominant syndrome of mental retardation: pterygium colli, unusual features, and digital anomalies. The craniofacial abnormalities include brachycephaly, epicanthus inversus, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low set, posteriorly rotated ears. The digits are remarkable for proximally displaced small thumbs, widened interphalangeal joints, and broad terminal phalanges. © 1994 Wiley‐Liss, Inc.
Autosomal recessive congenital intrauterine infection‐like syndrome of microcephaly, intracranial calcification, and CNS disease
Authors: Reardon W. , Hockey A. , Silberstein P. , Kendall B. , Farag T. I. , Swash M. , Stevenson R. , Baraitser M. 
Published: June 2005

AbstractWe present data on 10 patients from 5 families with a condition of microcephaly, intracranial calcification, and a clinical course resembling congenital TORCH infection. Repeatedly, negative TORCH investigations are a prerequisite for the identification of this disorder and the value of disturbed liver function and thrombocytopenia as aids to diagnosis is emphasised. Several similar families with recurrence of the disease in sibships are identified in the literature and the genetic implications of our observations are considered. © 1994 Wiley‐Liss, Inc.
Carrier risk calculations for recessive diseases when not all the mutant alleles are detectable
Authors: Curnow R. N. 
Published: June 2005

AbstractThe number of recessive diseases, such as cystic fibrosis, in which some but not all of the mutations causing the disease can be detected using genetic probes, is certain to increase. For counselling purposes, the probability that a consultand known not to have a detectable mutation is nevertheless a carrier, needs to be calculated with as much accuracy as possible. This paper describes a program, available from the author, written specifically to make these calculations. As an example, results are presented for cystic fibrosis, assuming an incidence of 1 in 2,400 and that 80% of the mutations, being ΔF508 mutations, are detectable. Numerical results are given when information may be available on the parents, one or two sibs and one or two children of the consultand. When test results are available on the children, the test status of the spouse of the consultand is relevant and may also be available. Risk calculations are also presented when an aunt (uncle) of the consultand has cystic fibrosis. Finally, disease and carrier risks are given for the child of first cousins, neither of whom has a detectable mutation. © 1994 Wiley‐Liss, Inc.
Comparison of frugivory by howling monkeys (Alouatta palliata) and bats (Artibeus jamaicensis) in the tropical rain forest of Los Tuxtlas, Mexico
Authors: Estrada Alejandro , Coates‐Estrada Rosamond , Vasquez‐Yanes Carlos , Orozco‐Segovia Alma 
Published: June 2005

AbstractInformation on the fruit diets of howling monkeys and fruit‐eating bats in the tropical rain forest of Los Tuxtlas, Mexico was collected for a year to compare the plant species used. Howling monkeys used 19 plant species whereas bats used 32 plant species as fruit sources. Eleven species were common in the diet of both mammals. A rank analysis at the plant species level showed that the fruit diets of Alouatta and Artibeus were very different. In contrast to bats, howling monkeys displayed a seasonal pattern in fruit consumption. Diet overlap between the two mammals was highest during the monkeys' fruit‐eating season. Measures of fruit production in eight trees (four species) indicated marked variations in fruit biomass produced and in length of fruiting from tree to tree and species to species. Peaks in fruit production were typical both at the species and the individual tree levels, demonstrating the very patchy nature of the fruit available to the monkeys and the bats.
“Conversations” among pygmy marmosets
Authors: Snowdon Charles T. , Cleveland Jayne 
Published: June 2005

AbstractPygmy marmosets (Cebuella pygmaea) use a variety of trill‐like vocalizations to maintain contact among group members throughout the day. Frequently, when one animal gives a trill, other animals will respond antiphonally. Among three pygmy marmosets in a captive group, there were clear patterns or sequences of calling among animals. All three animals would call in sequence more frequently than expected by chance, while the likelihood of an animal calling twice before each of the other animals called once was less than expected by chance. One particular ordering of three individuals calling in sequence was more common than the other ordering of three animals. Individual differences were found between the likelihood of initiating call sequences and the likelihood of calling later in a sequence. Pygmy marmosets appear to have a conversational rule system to govern their antiphonal calling.
Behavioral responses to species‐specific warning calls in infant squirrel monkeys reared in social isolation
Authors: Herzog Michael , Hopf Sigrid 
Published: June 2005

AbstractSix infant squirrel monkeys were reared in social isolation. They responded differentially to playbacks of two species‐specific alarm calls. The reaction to the alarm peep, the warning call to bird predators, was a prompt flight to the mother surrogate and essentially resembled the respective behavior of mother‐reared infants. The responses to yapping, the alarm call to terrestrial predators, were less clear‐cut and habituated soon. However, when yapping was played back in connection with the presentation of a reference object, both subjects tested in this way clearly avoided the object and preferred contact with the mother surrogate while they thoroughly explored an object presented with a control tone. From this it can be concluded that the perception of both alarm calls is innate. In addition, the method of behavior‐contingent playback of vocalizations simulates the learning process by which the visual perception of terrestrial predators of the habitat is acquired.