bluuebunny/crossref_metadata_2025_split huggingface dataset:
Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?
Authors: Bottani A. , Robinson W. P. , Delozier‐Blanchet C. D. , Engel E. , Morris M. A. , Schmitt B. , Thun‐Hohenstein L. , Schinzel A. 
Published: June 2005

AbstractThe Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age‐dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the critical region q11–q13. Rare cases also result from paternal uniparental disomy of chromosome 15. In a group of 14 patients with sporadic AS diagnosed in Switzerland, we found 2 unrelated females with paternal isodisomy for the entire chromosome 15. Their phenotypes were milder than usually seen in this syndrome: one girl did not show the typical AS facial changes; both patients had late‐onset mild seizures; as they grew older, they had largely undisturbed gross motor functions, in particular no severe ataxia. Both girls were born to older fathers (45 and 43 years old, respectively). The apparent association of a relatively milder phenotype in AS with paternal uniparental disomy will have to be confirmed by detailed clinical descriptions of further patients. © 1994 Wiley‐Liss, Inc.
Mirror‐image dental fusion and discordance in monozygotic twins
Authors: Sperber G. H. , Machin G. A. , Bamforth F. J. 
Published: June 2005

AbstractA pair of monozygotic twins had similar but not identical dental anomalies. One twin had fusion of deciduous mandibular lateral incisor and canine on the left, with normal dentition on the right; the co‐twin had right mandibular incisor/canine fusion, with aplasia of the lateral incisor on the left. These findings are discussed in the context of the related phenomena of situs inversus, mirror‐imaging in twins, and gradients of severity of anomalies in the four copies of the mandibular developmental dental field. © 1994 Wiley‐Liss, Inc.
Metacarpophalangeal pattern profile analysis in Sotos and Marfan syndrome
Authors: Dijkstra P. F. , Cole T. R. P. , Oorthuys J. W. E. , Venema H. W. , Oosting J. , Nocker R. E. T. 
Published: June 2005

AbstractPatients with Sotos and Marfan syndrome have unusually long metacarpals and phalanges which may make the differential diagnosis difficult in younger children. Using Q‐scores, we compared metacarpophalangeal pattern profile (MCPP) analysis in these two syndromes and identified distinct and different pattern profiles. This illustrates that the MCPPs are specific in these syndromes, even at an early age, and not related solely to the unusually long metacarpals and phalanges. For this study we used data from 50 Sotos patients (34 from the United Kingdom and 16 from the Netherlands, with a total of 95 hand films) and 36 Marfan patients (from the Netherlands, with 98 hand films). Of all patients over age 3 years the bone length (including the epiphysis) was determined. The patients under 7½ years (29 Sotos and 12 Marfan) were also measured without inclusion of the epiphysis. The patients measured without epiphysis had a relative short metacarpal 1 (MC1) and long distal phalanx 1 (DPh1) in Sotos syndrome, and a relative long MC1 and short DPh1 in Marfan syndrome. Between age 3 and 7½ years more than 90% of the films could be classified correctly using these two variables. Of the roentgenograms measured with epiphyses, about 80% were classified correctly. © 1994 Wiley‐Liss, Inc.
Follow‐up study of patients with Wiedemann‐Beckwith syndrome with emphasis on the change in facial appearance over time
Authors: Hunter Alasdair G. W. , Allanson Judith E. 
Published: June 2005

AbstractWe have carried out a follow‐up study of 13 children with Wiedemann‐Beckwith syndrome (WBS) using a standard protocol which included facial anthropometric measurements. We confirm that most patients with WBS do well and that their clinical abnormalities become less apparent with age. We suggest that there is a characteristic neonatal appearance in WBS and that the expected pattern of facial growth generally results in a normal appearance by mid‐ to late childhood. We tentatively propose that there is a distinct facial anthropometric pattern profile in WBS. © 1994 Wiley‐Liss, Inc.
Jackson‐Weiss syndrome: Clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter
Authors: Adès L. C. , Mulley J. C. , Senga I. P. , Morris L. L. , David D. J. , Haan E. A. 
Published: June 2005

AbstractWe describe the clinical and radiological manifestations of the Jackson‐Weiss syndrome (JWS) in a large South Australian kindred. Radiological abnormalities not previously described in the hands include coned epiphyses, distal and middle phalangeal hypoplasia, and carpal bone malsegmentation. New radiological findings in the feet include coned epiphyses, hallux valgus, phalangeal, tarso‐navicular and calcaneo‐navicular fusions, and uniform absence of metatarsal fusions.Absence of linkage to eight markers along the short arm of chromosome 7 excluded allelism between JWS and Saethre‐Chotzen syndrome at 7p21. No linkage was detected to D5S211, excluding allelism to another recently described cephalosyndactyly syndrome mapping to 5qter. © 1994 Wiley‐Liss, Inc.
Deletion (2) (q37)
Authors: Stratton Robert F. , Tolworthy Janet A. , Young Robert S. 
Published: June 2005

AbstractWe report on a 5‐month‐old girl with widely spaced nipples, redundant nuchal skin, coarctation of the aorta, anal atresia with distal fistula, postnatal growth retardation, hypotonia, and sparse scalp hair. Initial clinical assessment suggested the diagnosis of Ullrich‐Turner syndrome. Chromosome analysis showed a 46,XX,del(2)(q37) karyotype in peripheral lymphocytes. We compare her findings to those of other reported patients with terminal deletions of 2q. © 1994 Wiley‐Liss, Inc.
Spondyloepimetaphyseal dysplasia (SEMD) Shohat type
Authors: Figuera L. E. , Ramírez‐Dueñas M. L. , Gallegos‐Arreola M. P. , Cantú J. M. 
Published: June 2005

AbstractRecently a distinct spondyloepimetaphyseal dysplasia (SEMD) was reported in three members of a Jewish family. We present a 3.5‐year‐old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked genuavara, and joint laxity. Roentgenologic findings include short long bones, wide and flared metaphyses with irregularities, delayed epiphyseal ossification, platyspondyly and morphological changes of vertebral bodies and fibular overgrowth. The striking resemblance of this patient to those previously reported confirms this form of SEMD as a distinct entity. Autosomal recessive inheritance is supported and the designation SEMD Shohat type is proposed. © 1994 Wiley‐Liss, Inc.
Two Prader‐Willi/Angelman syndrome loci present in an isodicentric marker chromosome
Authors: Luke Sunny , Verma Ram S. , Giridharan Radha , Conte Robert A. , Macera Michael J. 
Published: June 2005

AbstractWe found an abnormal 47,XX,+mar karyotype in a patient with developmental delay, hypotonia, microcephaly, failure to thrive, and cognitive delay. When metaphases were hybridized with Prader‐Willi and Angelman loci‐specific probes by the FISH technique, two sites were noted at opposite positions on the marker chromosome. The alphoid satellite DNA probe documented the isodicentric nature while retention of the p arms on both sides of the marker chromosome was demonstrated by beta satellite probe. The patient does not exhibit manifestations of either syndrome despite the presence of these loci in tetrasomic dose. The present investigation suggests that other marker chromosomes be reevaluated, as their clinical manifestations are quite variable. © 1994 Wiley‐Liss, Inc.
Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies
Authors: Chotai Kokila A. , Brueton Louise A. , van Herwerden Lyn , Garrett Christine , Hinkel Georg K. , Schinzel Albert , Mueller Robert F. , Speleman Frank , Winter Robin M. 
Published: June 2005

AbstractTo date, 32 cases of partial 7p monosomy have been described, 14 of which have been associated with craniosynostosis (CRS). There is considerable variation in the size and location of the deleted segment. However, CRS appears to be consistently associated with either a deletion or partial deletion 7p21→7p22 or more rarely a deletion of 7p13→7p14.Analysis of a panel of six 7p deletion cases (three with CRS) was undertaken using informative DNA probes, in order to characterize and define the extent of the deletions at the molecular level. There were five de novo deletions and one resulting from the unbalanced product of a paternal balanced insertion.The putative proximal CRS locus at 7p13→7p14 does not appear to be allelic with Greig cephalopolysyndactyly syndrome. Three probe positions have been refined: pJ5.11 (D7S10) previously mapped to 7p14→pter does not appear to map proximal to p15; TM102L (D7S135) does not map distal to p22; CRI‐P137 (D7S65) maps distal to 7p13. © 1994 Wiley‐Liss, Inc.
Is fragile X syndrome a pervasive developmental disability? Cognitive ability and adaptive behavior in males with the full mutation
Authors: Fisch Gene S. , Holden Jeanette J. A. , Simensen Richard , Carpenter Nancy , Howard‐Peebles Patricia N. , Maddalena Anne , Sandgrund Alice , Jacques Jean‐Robert , McGann Barbara 
Published: June 2005

AbstractIn addition to mental retardation (MR), fragile X [fra(X)] syndrome has been associated with various psychopathologies, although it appears that the link is secondary to MR. It has been proposed that individuals with the full mutation be classified as a subcategory of pervasive developmental disorders (PDD). If fra(X) males are to be categorized as PDD, how do they compare with other types of developmental disabilities? We examined 27 fra(X) males aged 3–14 years, from 4 sites in North America. Measures of cognitive abilities were obtained from the Stanford‐Binet Fourth Edition (SBFE), while levels of adaptive behavior were evaluated using the Vineland Adaptive Behavior Scales (VABS). Control subjects were sex‐, age‐, and IQ matched children and adolescents ascertained from the Developmental Evaluation Clinic (DEC) at Kings County Hospital. At the DEC, control subjects were diagnosed as either MR (n=43) or autistic disorder (AD; n=22). To compare subjects' adaptive behavior (SQ) with their cognitive abilities (IQ), a ratio of {(SQ/IQ)x100} was computed. Results graphed as cumulative distribution functions (cdf) revealed that the cdf for AD males, who by definition are socially impaired, was positioned to the left of the cdf for MR controls, as expected. Mean ratio for AD males (70) was lower than for MR males (84). On the other hand, the cdf for fra(X) males was positioned far to the right of either AD or MR controls (mean ratio = 125). Statistical tests showed that SQ of fra(X) males was significantly higher than controls. Moreover, in 23/26 (88%) of the fra(X) males tested, SQ was greater than IQ, indicating that adaptive behavior was not as impaired as cognitive abilities. Our results have consequences for the clinical evaluation of fra(X). In particular, fra(X) individuals may appear to function at higher cognitive levels than may be the case. We suggest that, while fra(X) may produce mild to profound developmental delay, it should not be included as a separate subtype of developmental disorder. © 1994 Wiley‐Liss, Inc.
Longitudinal changes in IQ among fragile X females: A preliminary multicenter analysis
Authors: Fisch Gene S. , Simensen Richard , Arinami Tadao , Borghgraef Martine , Fryns Jean‐Pierre 
Published: June 2005

AbstractLongitudinal declines in IQ among fragile X [fra(X)] males have been reported previously by several investigators. Remarkably little is known about longitudinal changes in IQ scores among fra(X) females. Previously, one cross‐sectional study showed a significant negative correlation between age and IQ scores. However, a recent investigation of girls with fra(X) syndrome noted longitudinal increases in IQ scores in 8 of 11 individuals. Therefore, the purpose of this preliminary multicenter study was to determine: (1) the characteristics of longitudinal changes in IQ among fra(X) females; and (2) whether these changes were comparable to those which have been observed among fra(X) males. IQ test and retest scores for 11 fra(X) females were obtained from 3 centers: Greenwood, South Carolina; Ibaraki, Japan; and Leuven, Belgium. To ensure high reliability, only test‐retest scores from the Wechsler and Stanford‐Binet tests were used. Age of subjects at initial testing ranged from 5 to 35 years. Mean intertest interval was 4.5 years. In contrast to a report of longitudinal increases, we found 9/11 (82%) subjects demonstrated decreases in IQ scores. Mean decline was 9 points. Females over 18 years of age showed little or no change in IQ scores. Decreases in scores appeared to be related to initial IQ score. Females in the earlier longitudinal report were higher functioning than those in our study, which may account for the observed difference in direction of change; or, change in IQ score may be related to size of the fra(X) mutation. These preliminary findings are consistent with our earlier multicenter study of fra(X) males and suggest that while cognitive deficits are greater initially among males than females, longitudinal changes in IQ scores are comparable. © 1994 Wiley‐Liss, Inc.
Personality profile in adult female fragile X carriers: Assessed with the Minnesota Multiphasic Personality Profile (MMPI)
Authors: Steyaert Jean , Decruyenaere Marleen , Borghgraef Martine , Fryns Jean‐Pierre 
Published: June 2005

AbstractTo assess if the higher incidence of psychiatric morbidity in fragile X carriers is related to a particular pathological personality profile, we obtained a Minnesota Multiphasic Personality Profile from 11 normally intelligent (female) fragile X carriers. The sample mean for the clinical and validity scales all fell within the normal range. Although no pathological profile was found, some unexpected results emerged: low scores for the scales “schizophrenia” and “social introversion” and a so‐called faking‐good profile on the validity scales. This combination suggests that the subjects might not be aware of some personality characteristics in these areas. Implications for further research are discussed. © 1994 Wiley‐Liss, Inc.
Behavioural and emotional disturbance in fragile X syndrome
Authors: Einfeld Stewart L. , Tonge Bruce J. , Florio Tony 
Published: June 2005

AbstractA range of behaviours has been postulated as specific manifestations of the Fragile X (fra(X)) syndrome. This study examines a broad range of behaviours in subjects with fra(X) syndrome and in control individuals. It was designed to take account for differing findings in previous studies. Subjects were 48 children, adolescents, and young adults with fra(X) syndrome. They were compared with a large community epidemiological sample (N = 454) of persons with mental retardation (M.R.), matched for age, sex, and IQ. Behavioural problems were studied using the Developmental Behaviour Checklist, an instrument of established reliability and validity in the evaluation of behavioural and emotional disturbance in children and adolescents with mental retardation. Fragile X subjects had more shyness and avoidance of eye contact and less antisocial behaviour. Further methodological issues pertaining to studies of behaviour phenotype in general are discussed. © 1994 Wiley‐Liss, Inc.
Population genetics of fragile X: A multiple allele model with variable risk of CGG repeat expansion
Authors: Kolehmainen Karen 
Published: June 2005

AbstractA model of the population genetics of fragile X that incorporates an arbitrarily large number of alleles based on CGG repeat number is presented. The probability of transition from a premutation to a full mutation upon maternal transmission depends on maternal allele size, as suggested by molecular data. Transitions among various sizes of premutation alleles upon both maternal and paternal transmission are also included using empirically determined transition probabilities. Multiple paths to the final full mutation allele are allowed. Algebraic results for equilibrium allele frequencies are presented for an arbitrary number of alleles, and numerical results are presented for the case of 9 alleles. The model predicts large frequencies for alleles near the normal premutation borderline and high mutation probabilities for the first few mutational steps. The model also predicts that the approach to equilibrium allele frequencies is quite slow, and that a premutation allele typically persists for many generations in a given family before the final transition to a full mutation allele. These nonequilibrium effects are sensitive to the transition probability from large normal alleles to small premutation alleles. © 1994 Wiley‐Liss, Inc.
Fragile X induction systems in CVS cultures: Effect on cytogenetic, PCR, and genomic southern blot DNA analyses of the FMR‐1 gene
Authors: Jenkins Edmund C. , Morys Iwana , Henderson Jeanine , Genovese Marilyn , Carter Mary , Li Shu‐Yun , Houck George E. , Ding Xiaohua , Stark‐Houck Sandra L. , Dobkin Carl S. , Brown W. Ted 
Published: June 2005

AbstractLow fragile X frequencies have been commonly observed in chorionic villus sample (CVS) cultures, compared to subsequent analysis in whole blood or products of conception (POC). To investigate possible mechanisms for this effect, CVS cultures from a previously identified fragile X positive male, were restudied and compared to subsequent POC cultures from lung, muscle, skin, and thymus. Cultures were exposed, for the last 24 hours before harvesting, to FUdR, excess thymidine, and a combination of both. For CVS, only those cultures that were exposed to a combination of FUdR and excess thymidine showed positive cytogenetic findings (1/90 or 1.1%), agreeing with our original positive cytogenetic results (2/86 or 2.3%) for cultures exposed to excess thymidine. Fragile X frequencies in the POC tissues from this fetus increased to an average of 14%. PCR analyses showed full mutations (>200 CGG repeats) in uninduced CVS cultures but induced cultures exhibited apparently smaller sizes in the range of 120–180 repeats. The results showed variability. In one instance, the banding pattern from one of the uninduced cultures was similar to the results where cultures were exposed to a double induction system. When PCR analyses were conducted on induced POC cultures, full mutations were observed in virtually all samples. Southern blot genomic analysis using probe StB12.3 showed an unmethylated full mutation in CVS cultures. Southern blot patterns from cultures of muscle revealed size variations of DNA bands in the premutation range representing unmethylated DNA as well as methylated full mutations. Finally, variations were also observed in lung and skin cultures, compared to CVS and muscle. The multiple banding patterns that occurred as a function of methylation appeared to be histiotypic.These results suggest that fragile X induction in CVS cultures causes a decrease in apparent CGG repeat size, an effect not seen or less apparent in most cultured POC tissues. Alternatively, apparent histiotypic variations in banding patterns observed in PCR and StB12.3 genomic Southern blot analyses may reflect differences in tissue type mosaicism, methylation, and/or stage of development. Our findings may help explain the relatively low cytogenetic frequencies commonly seen in CVS cultures. © 1994 Wiley‐Liss, Inc.
Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region
Authors: Trottier Yvon , Imbert Georges , Poustka Annemarie , Fryns Jean‐Pierre , Mandel Jean‐Louis 
Published: June 2005

AbstractWe report on a patient with moderate mental retardation and a typical fragile X phenotype, with no family history and no fragile X site on cytogenetic analysis. The patient was found to have a deletion encompassing part of the FMR1 gene and a 70–100 kb region upstream of the FMR1 promotor region. This deletion is smaller than those previously reported and confirms that FMR1 is the major and probably the only gene implicated in the phenotype of the fragile X syndrome. © 1994 Wiley‐Liss, Inc.
Fragile‐X syndrome in east Finland: Molecular approach to genetic and prenatal diagnosis
Authors: Ryynänen Markku , Pulkkinen Leena , Kirkinen Pertti , Saarikoski Seppo 
Published: June 2005

AbstractFragile X is the most common inherited form of mental retardation, having an incidence of one in 1,250 males. The fragile X syndrome results from amplification of the CGG repeat found in the fragile X mental retardation‐1‐gene (FMR‐1). This CGG repeat shows length variation in normal individuals and is increased significantly in both carriers and patients.Non‐retarded carriers of both sexes can be detected reliably only by direct DNA analysis of the fra(X) mutation. Here we investigate fragile X families using the intragenic probes St.B 12.3 and St.B 12.3 XX (J‐L Man‐del). Fragile X syndrome could be verified in 51 families of the population of 900,000 in East‐Finland during 1989–92. The index cases of the syndrome were found by the help of health care personnel, 463 relatives of these families consented to be tested for the mutation of the FMR‐1 gene. Ninety‐three relatives with the full mutation and 127 healthy carriers with the premutation of the fragile X syndrome were diagnosed. In addition, 28 deceased males were obligate carriers. During the year 1992 prenatal diagnosis for fragile X was carried out in nine pregnancies.For understanding of the occurrence of fragile X syndrome and for better prevention of this syndrome in next generations, systematic genetic counseling and carrier screening in these families is essential. © 1994 Wiley‐Liss, Inc.
Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome
Authors: Halley Dicky , Van Den Ouweland Ans , Deelen Wout , Verma Ishwar , Oostra Ben 
Published: June 2005

AbstractPrenatal diagnosis of fragile X syndrome identifying full mutations has been described. Here we report on a case of a prenatal test concerning a normal male carrier of the fragile X syndrome. Southern blot analysis of the fragile X gene resulted in the identification of a premutation in DNA isolated from the chorionic villus sample. Using a polymerase chain reaction (PCR)based assay the CGG repeat length was determined to be 82 CGG repeat units. Confirmation of this premutation in the chorionic villus sample was based on the cytogenetic analysis of the expression of the fragile site at Xq27 applied on a cordocentesis‐derived blood sample. © 1994 Wiley‐Liss, Inc.