bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: A new autosomal recessive syndrome
Authors: Kennerknecht Ingo , Sorgo Wolfgang , Oberhoffer Renate , Teller Walter M. , Mattfeldt Torsten , Negri Giovanni , Vogel Walther 
Published: June 2005

AbstractWe report on 2 phenotypec sisters, one with 46,XY. the other with 46,XX. The 2 girls had similar related internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex vitium cordis, and diaphragmatic hernia (only sib 1) or omphalocele (only sib 2). This combination of malformations did not fit into any of the previously described syndromes. For this syndrome we suggest the acronym PAGOD ([hypoplasia of the] pulmo, and pulmonary artery, agonadism, omphalocele/diaphragmatic defect, dextrocardia). The occurrence of a basically similar set of malformations in 2 unlike sex is interpreted as evidence for autosomal recessive inheritance. The different gonosomal status excludes the Y chromosome as a responsible factor. The peculiar finding of a 46,XX sex chomosomr constitution combined with agonadism and an intact urogenital tract emphasizes the concept of secondary regression of Wolffian and Müllerian structures. The associated malformations of mesodermal structures can be interpreted as midline defects. We suggest that, from the developmental field perspective, secondary regression of midline structures including the gonadal anlage explains the pathogenesis reasonably well. © 1993 Wiley‐Liss, Inc.
Adams‐Oliver syndrome: A case with juvenile chronic myelogenous leukemia and chylothorax
Authors: Farrell S. A. , Warda L. J. , Laflair P. , Szymonowicz W. 
Published: June 2005

AbstractWe report on a patient with Adams‐Oliver syndrome and report new findings: a chylous pleural effusion and juvenile chronic myelogenous leukemia. Also, our patient had congenital heart disease, confirming that heart lesions are a manifestation in this syndrome. The major manifestations of this disorder are summarized. Included are cases not previously recognized as having Adams‐Oliver syndrome identified in a literature survey. Distal limb deficiency is commonest with more frequent and more severe involvement of the lower limbs. Scalp defects are the second commonest manifestation, while an underlying skull defect is not infrequent. Cutis marmorata telangiectatica and dilated scalp veins are significant signs of this condition. This review highlights unresolved questions about Adams‐Oliver syndrome. © 1993 Wiley‐Liss, Inc.
Stuttering as a phenotype for behavioral genetics research
Authors: Mellon Charles David , Umar Farah , Hanson Marvin L. 
Published: June 2005

AbstractStuttering is a broad behavioral phenotype with an adult prevalence of 0.7–1.0%. Family, twin, and segregation studies all indicate that stuttering has a large genetic component to its etiology. The relatively simple phenotype, the early onset, and the apparent rarity of phenocopies of adult stuttering all make stuttering a promising model for the study of the genetics of broad behavioral phenotypes. © 1993 Wiley‐Liss, Inc.
Mutational analysis of candidate genes in psychiatric disorders
Authors: Gejman Pablo V. , Gelernter Joel 
Published: June 2005

AbstractA genetic hypothesis for a disease presupposes the existence of variation in the DNA sequences of affected individuals. A series of techniques known together as “mutational analysis” can be applied towards identifying new sequence variations in selected genes. These techniques can screen a large series of individuals for mutations efficiently, so it is not necessary to determine the nucleotide sequence in every DNA sample. DNA samples suspected of harboring sequence variants are then sequenced. Denaturing gradient gel electrophoresis techniques, single stranded conformation polymorphism paradigms, and chemical cleavage of mismatches are 3 procedures widely used for the molecular screening of mutations today. We discuss each of these techniques for mutation screening. © 1993 Wiley‐Liss, Inc.
Unipolar relatives in bipolar pedigrees: A search for indicators of underlying bipolarity
Authors: Blacker Deborah , Lavori Philip W. , Faraone Stephen V. , Tsuang Ming T. 
Published: June 2005

AbstractIn an effort to identify features indicative of underlying bipolarity within the unipolar relatives of bipolar probands, we compared unipolar relatives of bipolars with unipolar relatives of unipolars. Using data from the Collaborative Study of the Psychobiology of Depression, we compared a number of demographic and clinical features individually, and then developed a logistic regression model for the differences found. Unipolar relatives of bipolars were somewhat more likely to be male and to have subthreshold bipolar features, and less likely to have panic symptoms. In addition, they had a small but significant decrease in the number of depressive symptoms and a large decrease in all treatment indicators. A multiple logistic regression model for these differences was highly significant, but had limited ability to discriminate between the two groups. These differences are not large enough to effectively discriminate between the groups for the purposes of classification. These particular results may result from a number of factors, most likely the choice of comparison group. Nonetheless, the work demonstrates a potential method for the construction of caseness indices for use in genetic studies of bipolar and other psychiatric disorders. © 1993 Wiley‐Liss, Inc.
Alleles at the dopamine D4 receptor locus do not contribute to the genetic susceptibility to schizophrenia in a large Swedish kindred
Authors: Barr Cathy L. , Kennedy James L. , Lichter Jay B. , Van Tol Hubert H. M. , Wetterberg Lennart , Livak Ken J. , Kidd Kenneth K. 
Published: June 2005

AbstractThe discovery of a functional polymrphism within the dopamine D4 receptor gene (DRD4) has not only strengthened the hypotheses implicating DRD4 in the etiology of neuropyschiatic disorders, but also provided a genetic marker for testing these hypotheses. The possibility of the dopamine D4 receptor as a candidate gene for schizophrenia was investigated in a large Swedish kindred segregating for schizophrenia. Linkage to schizophrenia was tested by linkage analyses of 6 polymorphic markers (at 4 loci) in chromosome 11p15.5 including the dopamine D4 receptor (DRD4) and the tyrosine hydroxylase (TH) loci. Schizophrenia was excluded from close linkage to the DRD4 locus using two of the polymorphisms located within the dopamine D4 receptor gene. The first DRD4 polymorphism consists of variation in the number of a 48 bp imperfect direct repeat in the third exon; the second consists of a variable number of repeated G nucleotides in the first intron. In addition, some of the individuals homozygous for four or seven copies of 48 bp repeat alleles were tested for previously reported sequence variation among repeats. No single haplotype of the DRD4 alleles or haplotype of other markers in chromosome 11p15.5 was found to be common to the schizophrenic individuals in this family. Therefore, we find no evidence for linkage of the D4 receptor, or this region of 11p15.5, with genetic susceptibility to schizophrenia in this kindred. © 1993 Wiley‐Liss, Inc.
Summary of the third world congress on psychiatric genetics
Authors: Pato Carlos N. , Pato Michele T. , Kennedy James L. 
Published: June 2005

AbstractA summary of the proceedings of the third world congress on psychiatric genetics is presented. The meeting was held in New Orleans on October 2–5, 1993 and brought together researchers from around the world. The International Society of Psychiatric Genetics sponsored and organized this meeting. Rapid advances of the last few years were reviwed and discussed in terms of their impact on the evolution of experimental design. The importace of definition of heritable clinical phenotypes, and the need to continue to enhance analytic methods were stressed as a prority for the field. © 1993 Wiley‐Liss, Inc.
Natural history of trisomy 18 and trisomy 13: II. Psychomotor development
Authors: Baty Bonnie J. , Jorde Lynn B. , Blackburn Brent L. , Carey John C. 
Published: June 2005

AbstractDevelopmental data were abstracted from medical records on 50 trisomy 18 individuals ranging in age from 1 to 232 months and 12 trisomy 13 individuals ranging in age from 1 to 130 months. Data on the age when trisomy 18 and trisomy 13 children achieved developmental skills were collected from a larger group of 62 trisomy 18 individuals and 14 trisomy 13 individuals whose families filled out parent questionnaires. Developmental quotient (DQ), defined as developmental age divided by chronological age, averaged 0.18 for trisomy 18 and 0.25 for trisomy 13. There was a dramatic drop in DQ from infancy to later childhood. The highest DQs and the greatest variation in DQs were in the first 2–3 years of life. Developmental ages in 7 skill areas were significantly different, with daily living and receptive language having the highest values and motor and communication skills having the lowest. When chronological age was taken into account, there was no significant difference in DQs in the same 7 skill areas, although there was a trend that was similar to the pattern of differences with developmental age. Older children could use a walker, understand words and phrases, use a few words and/or signs, crawl, follow simple commands, recognize and interact with others, and play independently. Walking and some toileting skills were also reported for trisomy 13. Although individuals with trisomy 18 and trisomy 13 were clearly functioning in the severe to profound developmentally handicapped range, they did achieve some psychomotor maturation and always continued to learn. © 1994 Wiley‐Liss, Inc.
An infant with double trisomy (48,XXX, + 18)
Authors: Jaruratanasirikul Somchit , Jinorose Uraiwan 
Published: June 2005

AbstractWe report on an infant with double trisomy 48,XXX, + 18. She presented with manifestations of trisomy 18: prominent occiput, microphthalmia, small mouth, micrognathia, malformed ears, congenital heart defect, overlapping fingers, talipes equinovarus, and rockerbottom feet. An extra palmar crease was present only on the right hand. This patient was alive at 12 months. The clinical manifestations are compared with those of 10 previosly reported cases. © 1994 Wiley‐Liss, Inc.
Newly recognized autosomal recessive faciothoracoskeletal syndrome
Authors: Richieri‐Costa A. , Guion‐Almeida M. L. , Lauris J. R. P. , Ferreira D. M. 
Published: June 2005

AbstractWe report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long nec, pectus excavatum, brachy‐camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. © 1994 Wiley‐Liss, Inc.
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia)
Authors: Šantavá Alena , Zapletalová Jiřina , Michálková Kamila , Hanáková Stanislava , Kopřiva František , Šantavý Jiří , Dušek Jaroslav , Kleinová Dušana 
Published: June 2005

AbstractThe first symptoms of immunoosseous dysplasia were growth retardation and myopia. Nephrotic syndrome was diagnosed at the age of 8 years. Skeletal roentgenograms showed spondyloepiphyseal dysplasia. In the renal biopsy there was nodular accumulations of PAS‐positive hyaline material at the base of the granular stalks. There was lymphopenia with decreased CD4 and CD8 subpopulations. The condition of the patient gradually worsened until she died unexpectedly at 10 years with clincal symptoms of encephalitis. Autopsy documented cytomegaloviral pneumonia and advanced mesangioproliferative glomerulonephritis. In the spleen there was PAS‐positive hyaline material massively infiltrating the walls of the central arterioles of the splenic follicles. There was marked depletion of lymphocytes in the spleen and in lymphnodes. The differential diagnosis of immunoosseous dysplasia in the framework of spondyloepiphyseal dysplasia is discussed. © 1994 Wiley‐Liss, Inc.
Preaxial brachydactyly with abduction of thumbs and hallux varus: A distinct entity
Authors: Sharma Anita K. , Haldar Ashutosh , Phadke Shubha R. , Agarwal S. S. 
Published: June 2005

AbstractWe describe a father and his daughter who had a unique pattern of preaxial brachydactyly, and unusual facial appearance. Both had short broad abducted thumbs and halluces. The second digits of both hands were also short and broad and those of feet were medially angulated. The radiographic findings were short first metacarpals and first metatarsals and hypoplastic phalanges of first two digits of hands and feet. A similar pattern of brachydactyly was described by Christian et al. [1972: Am J Hum Genet 24:694–701] and Mononen et al. [1992: Am J Med Genet 42:706–713]. Our patients differ from those described by Christian et al. in that they did not have any mental retardation and from those of Mononen et al. by the absence of short stature and epiphyseal and metaphyseal changes. The heterogeneity of this new type of brachydactyly remains to be resolved. © 1994 Wiley‐Liss, Inc.
Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma
Authors: McDonald M. , Maynard S. , Sheldon S. , Innis J. 
Published: June 2005

AbstractThis is the first reported case of an unbalanced chromosome rearrangement resulting in trisomy 5q35.5 → qter and monosomy 16p 13.3 → pter, in a boy with mental and growth retardation, minor anomalies, and a history of bilateral papillary thyroid carcinoma. This was the result of a familial balanced translocation. The clinical and cytogenetic manifestations of the case are presented and the possible role of the chromosomal rearrangement in the etiology of the thyroid carcinoma is discussed. © 1994 Wiley‐Liss, Inc.
Population screening for carrier status: Effects of test limitations on precision of carrier prevalence rates
Authors: Parker Robert A. , Phillips John A. 
Published: June 2005

AbstractBecause of genetic heterogeneity and ambiguity of test results, only rarely will carrier screening identify all carriers of a given autosomal recessive disorder. However, the fraction of carriers identified by the test can be estimated in a case frequency study. The population carrier rate then is the rate observed in a population screening study divided by the fraction of all defective alleles detected by the screening test, estimated in the case frequency study. For example, suppose 3% of a population are found to carry the AF508 mutation for cystic fibrosis (CF) during population screening. If a case frequency study in this same population finds that 75% of the alleles of CF cases represent the ΔF508 mutation, then the estimated population carrier rate is 4% (= .03/.75). The precision of this estimate involves the precision of both the fraction of carriers detected in the case frequency study and the proportion of carriers observed in the population screening study. Standard formulae for estimating the confidence interval and sample size consider only the variability in the population screening study. Since these formulae underestimate the true variability of the estimate of the population carrier rate, the sample size calculated for a population screening study is also underestimated. We present formulae which incorporate the variability in both factors, and illustrate the effect of this additional variability on confidence limits for estimtes and sample size when planning a study. © 1994 Wiley‐Liss, Inc.
McKusick‐Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: A case report and review of the literature
Authors: Pul N. , Pul M. , Gedik Y. 
Published: June 2005

AbstractA female infant with McKusick‐Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula is presented. To the best of our knowledge, this is the second report in the literature of this association. © 1994 Wiley‐Liss, Inc.
Adams oliver syndrome: A family with extreme variability in clinical expression
Authors: Bamforth J. S. , Kaurah P. , Byrne J. , Ferreira P. 
Published: June 2005

AbstractWe describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies. The clinical variation between the individuals is more pronounced than in previously reported families. © 1994 Wiley‐Liss, Inc.
Attitudes of physicians and genetics professionals toward cystic fibrosis carrier screening
Authors: Faden Ruth R. , Tambor Ellen S. , Chase Gary A. , Geller Gail , Hofman Karen J. , Holtzman Neil A. 
Published: June 2005

AbstractWith the identification of the cystic fibrosis (CF) gene and its major mutations in 1989, there has been considerable debate among health professionals as to whether population‐based carrier testing should be instituted. This paper presents the results of a survey to determine the attitudes of physicians and genetics professionals towards CF carrier testing. Factors associated with differences in attitudes also were examined.A questionnaire was mailed to primary care physicians and psychiatrists in 10 states who graduated from medical school between 1950 and 1985. For comparison, medical geneticists and genetic counselors in the same states also received the questionnaire.A total of 1,140 primary care physicians and psychiatrists (64.8%) and 280 medical geneticists and genetic counselors (79.1%) responded. Although 92% of respondents believed that a couple should be tested after asking about a test that detected 80% of carriers, only 43.9% of respondents believed such a test should be offered routinely. Those specialists most likely to have been involved in genetic services were most opposed to routine screening. The most important reason reported for opposition to routine screening was the consequences of an 80% detection rate. When presented with a hypothetical “error‐free” test, 75.9% of respondents favored routine testing.Our findings suggest that there was little support for routinely offering the CF carrier test available at the time of this study among the physicians and professionals most involved in the provision of genetic services. © 1994 Wiley‐Liss, Inc.
RecTL: A complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease
Authors: Zimran Ari , Horowitz Mia 
Published: June 2005

AbstractWe describe 4 Jewish patients with type 1 Gaucher disease and the genotype N370S/recTL. They present either asymptomatic or mild Gaucher disease. RecTL is a complex allele that contains 4 single point mutations in the glucocerebrosidase gene: D409H, L444P, A456P, and V460V. Since patients who have the genotype N370S/L444P usually develop a moderate to severe course of Gaucher disease, and those who are homozygous for the D409H or the L444P mutations develop aggressive disease accompanied by neurological signs, it is of great importance to distinguish between the severe single base pair mutations and the mild complex recTL allele. This distinction should prove useful in assessing the natural history of Gaucher disease and in considering the indications for early enzyme replacement therapy. © 1994 Wiley‐Liss, Inc.
Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy
Authors: Mostacciuolo M. L. , Miorin M. , Vitiello L. , Rampazzo A. , Fanin M. , Angelini C. , Danieli G. A. 
Published: June 2005

AbstractThe occurrence of 2 different intragenic deletions (exons 10–44 and exon 45, respectively) is reported in 2 male relatives affected with Duchenne muscular dystrophy, both showing the same haplotype for DNA markers not included in the deleted segment.The 2 different deletions seem to have occurred independently in the same X chromosome. This finding, together with other reports, suggests possibly an increased predisposition to mutations within the DMD locus in some families. Therefore, when dealing with prenatal diagnosis, the investigation on fetal DNA cannot be restricted only to the region in which a mutation was previously identified in the family. © 1994 Wiley‐Liss, Inc.
Informed consent and Huntington disease: A model for communication
Authors: Sharpe Neil F. 
Published: June 2005

AbstractAmerican and Canadian professional accreditation standards for medical genetics, and genetic counseling require certain abilities with regard to “communication.” What remains unclear is how such standards are to be interpreted in terms of appropriate clinical protocols, objectives, and values. These issues have significant medical and legal implications, particularly with regard to medical malpractice. From the perspective of genetic testing for Huntington disease, this paper identifies those clinical objectives and practices which may be described as constituting the appropriate standard of care for “communication,” and informed consent. © 1994 Wiley‐Liss, Inc.
Child with Sotos phenotype and a 5:15 translocation
Authors: Maroun Christiane , Schmerler Susan , Hutcheon R. Gordon 
Published: June 2005

AbstractWe report on a 4‐year‐old girl with Sotos phenotype and a de novo balanced translocation between the long arms of chromosome 5 and chromosome 15 [46,XX,t(5,15)(q35;q22)]. We suggest a relationship between genetic material at 5q35 or 15q22 and the expression of an autosomal dominant gene. © 1994 Wiley‐Liss, Inc.
New variant of chromosome 11
Authors: Aiello V. , Ricci N. , Palazzi P. , D'Agostino G. , Azzini G. , Calzolari E. 
Published: June 2005

AbstractAn additional C‐positive band in the centromeric region (p11) was observed in a man. By GTG‐ and RBA‐techniques it was positively stained but by QFQ‐technique the staining intensity was negative. Although he was identified through fetal loss in his wife, it apparently represents a familial variant whose clinical significance is unknown. © 1994 Wiley‐Liss, Inc.
Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8
Authors: Barber John C. K. , James Rowena S. , Patch Christine , Temple I. Karen 
Published: June 2005

AbstractWe present a patient with a de novo inverted duplication of the short arm of chromosome 8. Molecular analysis confirmed the cytogenetic suspicion of a simultaneous deletion of the tip of the short arm and indicated the maternal origin of the abnormality. This deletion made no detectable contribution to the phenotype of the patient which was comparable to that of previous cases of 8p duplication.Similar investigations of inverted duplications involving other chromosomes may reveal unexpected deletions with significant phenotypic consequences. © 1994 Wiley‐Liss, Inc.
Further delineation of the Beemer–Langer syndrome using concordance rates in affected sibs
Authors: Lurie Iosif W. 
Published: June 2005

AbstractSix familial cases of the Beemer–Langer syndrome (BLS) were analyzed to further elucidate the spectrum and frequency of anomalies observed in this disorder. Preaxial polydactyly was found in 3/6 affected sibs, and, therefore, its frequency previously may have been underestimated. Some patients, described as infants affected with the Majewski syndrome (MS) or “atypical” short rib‐poly‐dactyly conditions, may indeed have BLS. A high frequency of brain defects (16/26) and cleft tongue, oral frenula, and/or natal teeth (13/29) widens the list of typical findings in this syndrome. The specific type of tibial defect seems to be the most important discrimination of the MS and the BLS. © 1994 Wiley‐Liss, Inc.