bluuebunny/crossref_metadata_2025_split huggingface dataset:
Family patterns of developmental dyslexia: Clinical findings
Authors: Wolff Peter H. , Melngailis Ilze 
Published: June 2005

AbstractTwo separate groups of dyslexia families were ascertained through probands attending special schools for dyslexic students. An additional control group of families was ascertained through randomly selected students attending public schools. The 3 groups were interviewed by questionnaire about the family's demographic characteristics, and about the incidence of reading and spelling disorders in all first and second order relatives. One group of dyslexia families was also examined by standardized intelligence and academic achievement tests. Developmental dyslexia was found to aggregate in families; there were 4–5 times as many affected males as females among clinically identified students attending the special schools, but the sex ratio of affected relatives after probands had been excluded was approximately 1.4 males for every female. Sibs were at greater risk for reading difficulties when one parent was affected than when neither parent was affected. Sibs were also at greater risk for academic difficulties, and affected sibs were more severely impaired, when the father rather than the mother was the affected parent. In dyslexia families with 2 affected parents, the sibs were at greater risk, and the affected sibs were more severely impaired, than in families where only one parent was affected. Moreover, in families with 2 affected parents, both of the parents were more severely impaired in reading and spelling than parents of the same sex in families with one affected parent. Some indirect evidence is presented that assortative mating may codetermine patterns of affectedness in dyslexia families. © 1994 Wiley‐Liss, Inc.
Variation at the fragile X locus does not influence susceptibility to bipolar disorder
Authors: Craddock Nick , Daniels Jo , McGuffin Peter , Owen Mike 
Published: June 2005

AbstractOver the last 20 years several pedigrees have been reported which are suggestive of linkage between susceptibility to bipolar disorder and markers on chromosome Xq28. Other workers have failed to replicate these reports and the methodology of the positive reports has been criticised. Recently there have been several reports of an association between fragile X (FRA(X)) and affective disorder within families and in unrelated individuals compared with controls. Such reports could be consistent with the Xq28 marker reports because FRA(X) maps to Xq27.3. We report a study at the FRA(X) CGG repeat locus in 79 unrelated Caucasian bipolar probands without fragile X syndrome and 77 unrelated controls. We found no evidence that variation at this locus confers susceptibility to bipolar disorder. © 1994 Wiley‐Liss, Inc.
Genetic epidemiologic study of hearing loss in an adult population
Authors: Sill Anne M. , Stick Melissa J. , Prenger Valerie L. , Phillips Susan L. , Boughman Joann A. , Arnos Kathleen S. 
Published: June 2005

AbstractPrevious population studies of hearing loss have been limited to children with moderate to profound impairment, and have reported that heritability accounts for at least 50% of congenital or early‐onset cases. The present study was designed to assess genetic factors associated with late‐onset hearing impairment in an adult population. A brief family history and audiologic questionnaire was sent to approximately 11,200 members of the consumer organization, Self Help for the Hard of Hearing, Inc., and 4,039 questionnaires were returned. All respondents reported having at least one previous audiologic exam. Reported data were verified against audiograms when available. Regardless of the reported causes, 49% of early‐onset cases (⩽20 years of age) had one or two parent(s) with some form of hearing loss compared with 62% in later‐onset cases. As expected, mean age at onset was substantially younger for cases with positive family histories than cases with negative family histories. Results from nuclear segregation analysis showed that fully recessive and dominant models failed to explain the early‐ or late‐onset hearing loss data.In this nationwide survey, the large proportion of cases with positive family histories clearly indicates the importance of genetic factors in adult‐onset forms of hearing loss. Comparison with younger‐onset cases will permit further delineation of differences in inheritance patterns. This study should identify more homogeneous groups of adult‐onset families for further genetic study, and provide empiric information for use in genetic counselling. © 1994 Wiley‐Liss, Inc.
Self‐selection in predictive testing for Huntington's disease
Authors: Codori Ann‐Marie , Hanson Rebecca , Brandt Jason 
Published: June 2005

AbstractSeveral studies have reported favorable psychological reactions to predictive testing for Huntington's disease (HD). However, few atrisk persons have been tested, and there is evidence that some at‐risk people avoid testing because they fear being unable to cope with the information. Favorable psychological reactions may result from self‐selection of persons who believe they are better‐equipped to handle “bad news.” We surveyed 32 at‐risk persons who had considered, but not chosen, testing and 66 persons who had been previously tested. Twelve persons decided not to be tested (No group); 20 persons postponed testing until some later date (Maybe group). Of the two untested groups, a significantly greater number of the No group had not been tested because they anticipated problems associated with their emotional reactions. The persons in the Tested group had less often anticipated problems with their emotional reactions; and among the minority who had anticipated some problems, most did not question their ability to cope. We conclude that the Tested persons are psychologically selected for favorable responses to genetic testing.Surveys of health professionals suggest that a sizable minority would disclose genetic disease risk whether or not people want it. Thus, people who would not choose to be tested might be persuaded to do so, or have results thrust upon them. We should be wary about assuming that the generally favorable reactions to HD testing will continue when testing becomes more widespread, as is likely to happen with simplification of the technology and acceptance of these tests by the medical community. © 1994 Wiley‐Liss, Inc.
Further evidence of no linkage between schizophrenia and the dopamine D3 receptor gene locus
Authors: Nanko Shinichiro , Fukuda Rimmei , Hattori Mineko , Sasaki Tukasa , Dai Xiao Y. , Yamaguchi Kikuyo , Kazamatsuri Hajime 
Published: June 2005

AbstractThe dopamine hypothesis of schizophrenia proposed that dopaminergic pathways are involved in the etiology of the disease. In particular, interest among psychiatrists has focused on the D2 receptor because of its affinity to antipsychotic drugs. Recently a new dopamine receptor gene has been cloned, and named the dopamine D3 receptor. The D3 receptor is a potential site for antipsychotic drug action and may be involved in the pathophysiology of schizophrenia. We have carried out a linkage study between the susceptibility gene for schizophrenia and polymorphism of the dopamine D3 receptor gene in two Japanese pedigrees. The LOD scores were negative for, all genetic models and for all affective status at a recombination fraction θ = 0. Linkage of DRD3 has been excluded for the model 1 (dominant model) and the model13 (recessive model). The LOD score was ‐ 3.43 at θ = 0 for model 1 (dominant model) and broad definition of affected status. These results were consistent with previous studies. © 1994 Wiley‐Liss, Inc.
Elevated risks for amyotrophic lateral sclerosis and blood disorders in Ashkenazi schizophrenic pedigrees suggest new candidate genes in schizophrenia
Authors: Goodman Ann B. 
Published: June 2005

AbstractAmong relatives of Ashkenazi schizophrenic probands the rate of amyotrophic lateral sclerosis was 3/1,000, compared to expected population rates of approximately 2/100,000. Relative risk of bleeding disorders, including hematologic cancers, was increased more than three‐fold compared to controls. Co‐occurrence of motor neuron disease and blood dyscrasias, accompanied by psychosis, has long been recognized. A virally mediated autoimmune pathogenesis has been proposed. However, the familial co‐occurrence of these three disease entities raises the possibility that the disease constellation be considered as a manifestation of a common underlying genetic defect. Such expansion of the spectrum of affectation might enhance the power of both candidate gene and linkage studies. Based on these findings the loci suggested as candidate regions in schizophrenia include a potential hot spot on chromosome 21q21‐q22, involving the superoxide dismutase and amyloid precursor protein genes. Alternatively, genes on other chromosomes involved in the expression, transcription, or regulation of these genes, or associated with the illnesses of high frequency in these pedigrees are suggested. Candidates include the choroid plexus transport protein, transthyretin at 18q 11.2‐q12.1; the t(14;18)(q22;21) characterizing B‐cell lymphoma‐2, the most common form of hematologic cancer; and the 14q24 locus of early onset Alzheimer's disease, c‐Fos, transforming growth factor beta 3, and heat shock protein A2. Expression of hematologic cancers and the suggested candidate genes are known to involve retinoid pathways, and retinoid disregulation has been proposed as a cause of schizophrenia. © 1994 Wiley‐Liss, Inc.
Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia‐like syndrome
Authors: Nagai Toshiro , Nishimura Gen , Kato Rumiko , Hasegawa Tomonobu , Ohashi Hirofumi , Fukushima Yoshimitu 
Published: June 2005

AbstractWe describe a 5‐year‐old Japanese boy who has some radiographic findings characteristic of asphyxiating thoracic dystrophy (ATD)‐chondroectodermal dysplasia with a de novo chromosome abnormality. He also has mild mental retardation, short stature, hypoplastic hair and skin, oligodontia, small thoracic cage, hypoplastic pelvis and cone‐shaped epiphyses of hands. On cytogenetic studies he was found to have a de novo del(12)(p11.21p12.2). These results suggest that the locus of the gene associated with ATD‐chondroectodermal dysplasia may be situated at 12p11.21p12.2. © 1995 Wiley‐Liss, Inc.
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency
Authors: Tuchman Mendel , Matsuda Ichiro , Munnich Arnold , Malcolm Sue , Strautnieks Sandra , Briede Trevor 
Published: June 2005

AbstractWe used specific mutation analysis to estimate the proportions of males and females with ornithine transcarbamylase (OTC) deficiency whose mutations occurred in the germ cells of one of the parents. The mutations were identified in the probands, and subsequently carrier testing was performed on their mothers and some of the grandmothers. Of 28 OTC deficient males, only 2 (7%) had sporadic mutations (95% CI, 0.6–18.5%), whereas of 15 OTC deficient females, 12 (80%) had sporadic mutations (95% CI, 63–99%) (P < 0.001). Based on these results we estimated the male/female mutation rate ratio (ν/μ) in the OTC gene to be approximately 52. Assuming a fitness for males with OTC deficiency of 0 and the proportion of new female mutants at 0.80, the estimated fitness of heterozygous females is 0.4. Because of the difference in mutation rates between male and female germ cells, we suggest that 9/10 or higher, rather than the conventional 2/3 proportion, be applied when estimating prior risk of carrier status in a mother of one affected male. The prior risk of a mother of an affected female is much lower, approximately 2/10. © 1995 Wiley‐Liss, Inc.
Interstitial deletion of the long arm of chromosome 4, del(4)(q28→q31.3)
Authors: Copelli Silvia , Rey Graciela Del , Heinrich Juan , Coco Roberto 
Published: June 2005

AbstractInterstitial deletions of the long arm of chromosome 4 are rare. Different breakpoints are involved. Only one of the patients had a very similar deletion to that of the present case. Both had low birth weight at term; weight, length and head circumference less than the third centile; epicanthic folds; apparently low‐set abnormal ears; broad nasal bridge; micrognathia; hypoplastic nails; delayed psychomotor development; and mild mental retardation. © 1995 Wiley‐Liss, Inc.
A rapid method for PCR amplification of DNA directly from cells fixed in Carnoy's fixative
Authors: Li Shibo , Tuck‐Muller Cathy M. , Yan Qian , Wertelecki Wladimir , Chen Harold 
Published: June 2005

AbstractWe describe a method for rapid and efficient polymerase chain reaction (PCR) amplification of specific target DNA sequences directly from cells fixed in 3:1 methanol‐acetic acid (Carnoy's fixative) for routine cytogenetic analysis. The fixed cells used had been stored at −20°C from a few weeks up to 6 years. Primer sets used correspond to loci on an autosome (retinoblastoma, RB1), as well as the X (Duchenne muscular dystrophy, DMD) and Y (sex‐determining region of the Y, SRY) chromosomes. Sizes of amplified products were the expected 400, 251 and 609 bps, respectively. No differences in quality of amplification products were found between PCR templates obtained from fresh tissues or from cells fixed for varying lengths of time in Carnoy's fixative. This technique has the following advantages: (1) it allows retrospective studies of genetic disorders from archived specimens; (2) it requires only a limited number of cells; (3) it is rapid and simple; and (4) it avoids multistep procedures required in extraction of the DNA. © 1995 Wiley‐Liss, Inc.
Deletion involving D15S113 in a mother and son without Angelman syndrome: Refinement of the Angelman syndrome critical deletion region
Authors: Michaelis Ron C. , Skinner Steven A. , Lethco Bonné A. , Simensen Richard J. , Donlon Timothy A. , Tarleton Jack , Phelan Mary C. 
Published: June 2005

AbstractDeletions of 15q11‐q13 typically result in Angelman syndrome when inherited from the mother and Prader‐Willi syndrome when inherited from the father. The critical deletion region for Angelman syndrome has recently been restricted by a report of an Angelman syndrome patient with a deletion spanning less than 200 kb around the D15S113 locus. We report here on a mother and son with a deletion of chromosome 15 that includes the D15S113 locus. The son has mild to moderate mental retardation and minor anomalies, while the mother has a borderline intellectual deficit and slightly downslanting palpebral fissures. Neither patient has the seizures, excessive laughter and hand clapping, ataxia or the facial anomalies which are characteristic of Angelman syndrome. The proximal boundary of the deletion in our patients lies between the D15S10 and the D15S113 loci. Our patients do not have Angelman syndrome, despite the deletion of the D15S113 marker. This suggests that the Angelman syndrome critical deletion region is now defined as the overlap between the deletion found in the previously reported Angelman syndrome patient and the region that is intact in our patients. © 1995 Wiley‐Liss, Inc.
Dubowitz syndrome: Long‐term follow‐up of an original patient
Authors: Hansen Karen E. , Kirkpatrick Susan J. , Laxova Renata 
Published: June 2005

AbstractDubowitz syndrome is an autosomal recessive disorder of growth retardation, characteristic face, mild mental retardation, and eczema originally described by Dubowitz [1965]. Little information is available on natural history and adulthood in this disorder. We report on a 30‐year‐old woman who was one of the first patients to be diagnosed with the condition [Grosse et al., 1971, Z Kinderheilkd 110:175–187]. Microcephaly, short stature, leg length discrepancy, hyperextensible joints, spina bifida occulta, and absence of anterior cruciate ligaments were present. Her facial appearance had been modified by several plastic surgery procedures. Eczema resolved with age, with occasional flareups. Asthma, headaches, and seizures were additional medical findings. Speech delays, an unusually soft, high‐pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood. Mild mental retardation was present. At age 30 years she is living independently in her own apartment and working full‐time in a nearby sheltered workshop. © 1995 Wiley‐Liss, Inc.
Interstitial deletions 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger anomaly
Authors: Kulharya Anita S. , Maberry Mark , Kukolich Mary K. , Day Donald W. , Schneider Nancy R. , Wilson Golder N. , Tonk Vijay 
Published: June 2005

AbstractWe describe clinical and chromosomal findings in two patients with del(4q). Patient 1, with interstitial deletion (4)(q21.1q25), had craniofacial and skeletal anomalies and died at 8 months of hydrocephalus. Patient 2, with interstitial deletion (4)(q25q27), had craniofacial and skeletal anomalies with congenital hypotonia and developmental delay. These patients shared certain manifestations with other del(4q) patients but did not have Rieger anomaly. Clinical variability among patients with interstitial deletions of 4q may be related to variable expression, variable deletion, or imprinting of genes within the 4q region. © 1995 Wiley‐Liss, Inc.
Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new cases
Authors: Pettenati M. J. , Rao P. N. , Phelan M. C. , Grass F. , Rao K. W. , Cosper P. , Carroll A. J. , Elder F. , Smith J. L. , Higgins M. D. , Lanman J. T. , Higgins R. R. , Butler M. G. , Luthardt F. , Keitges E. , Jackson‐Cook C. , Brown J. , Schwartz S. , van Dyke D. L. , Palmer C. G. 
Published: June 2005

AbstractWe present a large review of 446 cases of paracentric inversions (PAI), including 120 new cases, to assess their incidence, distribution, inheritance, modes of ascertainment, interchromosomal effects, viable recombinant offspring, and clinical relevance. All 23 autosomes and sex chromosomes had inversions. However, none were identified in chromosome arms 18p, 19q, 20q, and Yp. PAI were most commonly reported in chromosomes 1, 3, 5, 6, 7, 11, and 14 and less frequently in chromosomes 4, 16, 17, 18, 19, 20, 21, 22, and Y. Inversions were most common in chromosome arms 6p, 7q, 11q, and 14q and observed least in chromosome arms 2p, 2q, 3q, 4q, and 6q. Frequently encountered breakpoints included 3(p13p25), 6(p12p23), 6(p12p25), 7(q11q22), and 11(q21q23).Ascertainment was primarily incidental (54.5%), mental retardation and/or congenital anomalies (22.2%), spontaneous abortions (11.4%), associations with syndromes (3.0%), and infertility (2.0%) accounted for the remainder. Ascertainment was neither related to the length of the inverted segment nor to specific inversions except for PAI of Xq which often presented with manifestations of Ullrich‐Turner syndrome. Sixty‐six percent of PAI were inherited while 8.5% were de novo. Recombination was observed in 17 cases, 15 of which resulted in a monocentric chromosomal deletion or duplication. No common factors were identified that suggested a tendency towards recombination. The incidence of viable recombinants was estimated to be 3.8%.This review documents that PAI are perhaps more commonly identified than suggested in previous reviews. Despite the possible bias of ascertainment in some cases, there may be associated risks with PAI that require further examination. Our data suggest that PAI carriers do not appear to be free of risks of abnormalities or abnormal progeny and caution is recommended when counseling. © 1995 Wiley‐Liss, Inc.
Heterogeneity in Roberts syndrome
Authors: Allingham‐Hawkins Diane J. , Tomkins Darrell J. 
Published: June 2005

AbstractRoberts syndrome (RS) is a rare, autosomal recessive condition characterized primarily by growth retardation, developmental delay, and limb anomalies. Some RS patients (RS+), but not others (RS−), have an abnormality of their constitutive heterochromatin (the “RS effect”). RS+ patients also show a cellular hypersensitivity to DNA damaging agents such as mitomycin C (MMC). Lymphoblastoid cell lines from 2 unrelated RS+ patients were fused and hybrid cells examined for correction of the RS effect and MMC hypersensitivity. Neither cellular defect was corrected in the 2 hybrid cell lines examined, suggesting that these 2 patients represent a single complementation group. Fusions were also performed between one RS+ cell line and 2 different RS− cell lines. In both fusions, the hybrids demonstrated correction of both the heterochromatin abnormality and MMC hypersensitivity. These observations suggest that RS+ and RS− patients belong to different complementation groups and do not arise from the same single gene mutation. © 1995 Wiley‐Liss, Inc.
Discordant fibular aplasia in twins
Authors: Paes Bosco A. 
Published: June 2005

AbstractA male infant, one of monozygotic twins, was born with absence of fibulae, ectrodactyly of the right hand and both feet, with accompanying deficiencies. This second case report of a discordant fibular aplasia developmental field defect occurring in monozygotic twins, although likely sporadic, is interesting because of the similar pattern of anomalies. © 1995 Wiley‐Liss, Inc.
Satellited 4q identified in amniotic fluid cells
Authors: Miller Ivan , Songster Giuliana , Fontana Silvana , Hsieh Chih‐Lin 
Published: June 2005

AbstractExtra material was identified on the distal long arm of a chromosome 4 in an amniotic fluid specimen sampled at 16.6 weeks of gestational age. There was no visible loss of material from chromosome 4, and no evidence for a balanced rearrangement. The primary counseling issue in this case was advanced maternal age. Ultrasound findings were normal, and family history was unremarkable. The identical 4qs chromosome was observed in cells from a paternal peripheral blood specimen and appeared to be an unbalanced rearrangement. This extra material was NOR positive in lymphocytes from the father, but was negative in the fetal amniocytes. Father's relatives were studied to verify the familial origin of this anomaly. In situ hybridization with both exon and intron sequences of ribosomal DNA demonstrated that ribosomal DNA is present at the terminus of the 4qs chromosome in the fetus, father, and paternal grandmother. This satellited 4q might have been derived from a translocation event that resulted in very little or no loss from the 4q and no specific phenotype. This derivative chromosome 4 has been inherited through at least 3 generations of phenotypically normal individuals. © 1995 Wiley‐Liss, Inc.
Genetic linkage for Darier disease (keratosis follicularis)
Authors: Kennedy James L. , Berg Daniel , Bassett Anne S. , Roy Rochelle , King Nicole , Perkins Michelle 
Published: June 2005

AbstractDarier disease is an autosomal dominant skin disorder characterized by abnormal keratinocyte adhesion. Recent data have provided evidence for linkage of the Darier disease locus to 12q23–24.1 in British families. We have carried out linkage analysis using the 12q markers D12S58, D12S84, D12S79, D12S86, PLA2, and D12S63 in 6 Canadian families. Pairwise linkage analysis generated positive lod scores at all 6 markers at various recombination fractions, and each family showed positive lod scores with more than one marker. The peak lod score in the multipoint analysis (Zmax) was 5.5 in the interval between markers D12S58 and D12S84. These positive lod scores in North American families of varied European ancestry confirm the location of the Darier disease gene, and suggest genetic homogeneity. The future identification and sequencing of the gene responsible for Darier disease should lead to improved understanding of the disease and of keratinocyte adhesion in general. © 1995 Wiley‐Liss, Inc.