bluuebunny/crossref_metadata_2025_split huggingface dataset:
Restoration of half the normal dystrophin sequence in a double‐deletion Duchenne muscular dystrophy family
Authors: Hoop R. C. , Russo L. S. , Riconda D. L. , Schwartz L. S. , Hoffman E. P. 
Published: June 2005

AbstractTwo male cousins with Duchenne musoular dystrophy were found to have different maternal dystrophin gene haplotypes and different deletion mutations. One propositus showed two noncontiguous deletions—one in the 5′, proximal deletional hotspot region, and the other in the 3′, more distal deletional hotspot region. The second propositus showed only the 5′ deletion. Using multiple fluorescent exon dosage and fluorescent multiplex CA repeat linkage analyses, we show that the mother of each propositus carries both deletions on the same grandmaternal X chromosome. This paradox is explained by a single recombinational event between the 2 deleted regions of one of the carrier's dystrophin genes, giving rise to a son with a partially “repaired” gene retaining only the 5′ deletion. © 1994 Wiley‐Liss, Inc.
Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs
Authors: Kajtár Pál , Méhes Károly 
Published: June 2005

AbstractA 2‐year‐old girl presented with thrombocytopenic purpura. Clinical examination and follow‐up documented severe bone marrow hypoplasia associated with bilateral progressive Coasts retinopathy, nail dystrophy, fine hair, and apparent chromosome instability. The syndrome is regarded as a variant of the Révész syndrome sharing some findings of dyskeratosis congenita. © 1994 Wiley‐Liss, Inc.
Unstable pre‐mutation may explain mosaic disease expression of incontinentia pigmenti in males
Authors: Traupe Heiko , Vehring Karl‐Heinz 
Published: June 2005

AbstractMosiac skin lesions following the lines of Blaschko are found in boys affected by incontinentia pigmenti (IP). For an X‐linked gene defect, this is rather surprising. To explain the mosaic disease expression of IP in males, we propose that the disease is caused by an unstable pre‐mutation, which normally remains silent in males during early embryogenesis. Occasionally “silencing” is incomplete and gives rise to clinical manifest IP reflecting a mosaic state of alleles with the full and the pre‐mutation in the same patient. This model can account for mother‐to‐son transmission of IP and for disparate phenotypes in monozygotic female twins. © 1994 Wiley‐Liss, Inc.
Branchio‐oculo‐facial syndrome: Broadening the spectrum
Authors: McCool Michelle , Weaver David D. 
Published: June 2005

AbstractWe present 3 individuals, a mother, her son, and an unrelated child, with a number of manifestations reported in the branchio‐oculo‐facial syndrome (BOFS). The former 2 individuals lacked the ocular and branchial abnormalities normally encountered in this syndrome. However, unilateral renal agenesis was present in the first child, a defect infrequently found in the BOF syndrome. Both the mother and her son also had bilateral supra‐auricular sinuses. These defects may represent persistence of the otic vesicle sinus tract. The second child has a mild expression of this condition, among the mildest reported in the literature. The BOFS appears to represent a spectrum involving the development of the optic vesicles, branchial arches, eyes, face, lips, and kidneys. The variations seen in this disorder and the overlap between this condition and the branchio‐oto‐renal syndrome may represent different mutations within a single gene or may be a contiguous gene deletion syndrome. © 1994 Wiley‐Liss, Inc.
Further delineation of pseudotrisomy 13 syndrome: A case without polydactyly
Authors: Ramos‐Arroyo M. A. , de Miguel C. , Valiente A. , Moreno‐Laguna S. 
Published: June 2005

AbstractWe report on a baby with holoprosencephaly, median cleft lip, cardiac and genital anomalies, normal upper limbs, and a 46,XX karyotype. We also reviewed 22 karyotypically normal cases whose clinical features resembled trisomy 13 syndrome and compared them with the case we present. The problem of variable expression of the pseudotrisomy 13 syndrome versus genetic heterogeneity is illustrated. © 1994 Wiley‐Liss, Inc.
Cognitive functioning and information processing of adult mentally retarded men with fragile‐X syndrome
Authors: Maes B. , Fryns J.‐P. , Van Walleghem M. , Van den Berghe H. 
Published: June 2005

AbstractThe present study describes cognitive skills and information processing strategies of mentally retarded fra(X) men. Fifty‐eight fra(X) positive and 58 fra(X) negative adults, matched on sex, chronological age, length of institu‐tionalisation, general cognitive level, and living conditions, were evaluated with the Bayley or McCarthy Scales of Mental Abilities. Mental ages were mostly situated in the severe mental handicap category and were found to be negatively influenced by chronological age. A relative strength in perceptual performance and non‐verbal reasoning and a deficit in sequential information processing turned out to be typical of all mentally retarded subjects, irrespective of fra(X) or control status. Fra(X) adults could be significantly differentiated from control persons on the ground of a higher level of acquired knowledge because of better vocabulary and verbal‐expressive skills. On the other hand, they were less able to imitate non‐verbal patterns, had more difficulty with visual‐motor integration and co‐ordination, and applied less efficient general mental processing skills in solving new problems. The memory profile of fra(X) adults was strongly determined by the meaning and the complexity of the information that has to be reproduced. In this article the profile of cognitive strengths and weaknesses in the fra(X) group will be discussed and some general advice for training is suggested. © 1994 Wiley‐Liss, Inc.
Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies
Authors: Sensi A. , Bettoli V. , Zampino M. R. , Gandini E. , Calzolari E. 
Published: June 2005

AbstractWe describe a female patient with Vohwinkel syndrome (mutilating palmoplantar keratoderma), who in addition showed cleft lip and palate, microcephaly, facial asymmetry, and other anomalies. © 1994 Wiley‐Liss, Inc.
Abnormal bile acids in the Smith‐Lemli‐Opitz syndrome
Authors: Natowicz Marvin R. , Evans James E. 
Published: June 2005

AbstractThe urinary bile acids from four patients with Smith‐Lemli‐Opitz (SLO) syndrome were analyzed by continuous flow fast atom bombardment mass spectrometry. Two types of abnormalities were noted: (1) a deficiency of normal bile acids (cholenoates) and (2) the presence of abnormal species postulated to be cholenoates and cholestenoates. The finding of abnormal urinary bile acids in children with SLO syndrome led to further investigation of the cholesterol metabolic pathway and to the delineation of a new inborn error of metabolism, deficient conversion of 7‐dehy‐drocholesterol to cholesterol [Irons et al., 1993]. The abnormalities of urinary bile acids, if confirmed by further structural analyses and studies of additional patients, provide an explanation for various aspects of the gastrointestinal abnormalities and growth retardation noted in SLO syndrome and suggest that exogenous bile acid replacement may play an important role in the therapy of patients with this syndrome. © 1994 Wiley‐Liss, Inc.
Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar)
Authors: Langer Leonard O. , Gorlin Robert J. , Donnai Dian , Hamel Ben C. J. , Clericuzio Carol 
Published: June 2005

AbstractSpondylocarpotarsal synostosis syndrome is characterized by autosomal recessive inheritance, failure of normal spinal segmentation causing symmetrical block vertebrae or scoliosis, and lordosis. There is a disproportionately short trunk. Some patients have a unilateral unsegmented bar. Other skeletal changes include carpal synostosis, usually capitate‐hamate and lunate‐triquetrum. Tarsal synostoses were present in patients in whom the feet were radiographed. Stature is short. The feet are flat. Cleft palate and sensorineural or mixed hearing loss are variable manifestations. We have reviewed the literature and present 6 new patients, 2 of them sibs. © 1994 Wiley‐Liss, Inc.
Atypical acrofacial dysostosis syndrome
Authors: Christianson Arnold L. , Kruger Hester , Dini Laurette 
Published: June 2005

AbstractWe describe a male fetus with a combination of defects, including severe mandibulofacial dysostosis, holoprosencephaly, upper limb deficiency, and microgastria. These abnormalities indicate a severe defect of gastrulation/blastogenesis predominantly affecting cephalad structures. This combination of anomalies has to our knowledge not previously been described.We propose that the anomaly pattern represents either a blastogenesis‐related association, or a microgastria‐limb deficiency polytopic field defect. © 1994 Wiley‐Liss, Inc.
Deafness, sensory neuropathy, and ovarian dysgenesis: A new syndrome or a broader spectrum of Perrault syndrome?
Authors: Linssen Wim H. J. P. , Van den Bent Martin J. , Brunner Han G. , Poels Petra J. E. 
Published: June 2005

AbstractWe report on 3 sibs (2 males and one female) with sensorineural deafness. The presence of ovarian dysgenesis in the girl suggested a diagnosis of Perrault syndrome. In addition our patients have a sensory polyneuropathy and amelogenesis imperfecta. Two of the patients have mild mental retardation, fine choreatic movements, and dyspraxia. It is discussed whether these findings are part of a separate clinical entity or should be included within the spectrum of the Perrault syndrome. © 1994 Wiley‐Liss, Inc.
Epidemiological analysis of outcomes of pregnancy in diabetic mothers: Identification of the most characteristic and most frequent congenital anomalies
Authors: Martínez‐Frías María Luisa 
Published: June 2005

AbstractUsing data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), consisting of 19,039 consecutive malformed infants of unselected pregnancies, we have analyzed the relationship between nongestational maternal diabetes and different groups of congenital anomalies. The total sample of malformed babies was separated into two groups: children of nongestational diabetic mothers, and those of nondiabetic women. Analysis of the proportion of children identified in each group with different types of anomalies allows us to demonstrate that the most characteristic group of congenital anomalies observed in the children of diabetic women belongs to the caudal dysgenesis complex, while congenital heart defects are the most frequent malformations in these children. On the other hand, these children also present a multiple congenital anomalies (MCA) pattern more frequently than those of nondiabetic women. From this study it is also clear that the proportion of blastogenic malformations is higher in the offspring of diabetic mothers. © 1994 Wiley‐Liss, Inc.
Deletion 5q35.3
Authors: Stratton Robert F. , Tedrowe Nancy A. , Tolworthy Janet A. , Patterson Robert M. , Ryan Stephen G. , Young Robert S. 
Published: June 2005

AbstractWe report on a 15‐month‐old boy with a de novo deletion of the terminal band of 5q, macrocephaly, mild retrognathia, anteverted nares with low flat nasal bridge, telecanthus, minor earlobe anomalies, bell‐shaped chest, diastasis recti, short fingers, and mild developmental delay. © 1994 Wiley‐Liss, Inc.
Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis
Authors: Ogle R. F. , Wilson M. J. , Kozlowski K. , Sillence D. O. 
Published: June 2005

AbstractWe present two children with Desbuquois syndrome and characteristic facial appearance, and musculoskeletal and radiological findings. Two new complications of this syndrome are obstructive sleep apnoea and severe cervical kyphosis. © 1994 Wiley‐Liss, Inc.
Autosomal dominant polycystic kidney disease in the fetus
Authors: Michaud Jacques , Russo Pierre , Grignon Andrée , Dallaire Louis , Bichet Daniel , Rosenblatt David , Lamothe Estelle , Lambert Marie 
Published: June 2005

AbstractWe report on 3 cases with a fetal presentation of autosomal dominant polycystic kidney disease (ADPKD), which illustrate the variable expression of ADPKD during fetal life. Fetus 1 was diagnosed at 20 weeks of gestation by ultrasonography; a molecular prenatal diagnosis was performed at 10 weeks on fetus 2, a sib of fetus 1; and ADPKD was an incidental finding in fetus 3 who was aborted at 16 weeks for anencephaly. All pregnancies were terminated and pathologic studies of the fetal kidneys were performed. From these cases and a review of the literature, we draw the following conclusions: (1) so far, all fetal ADPKD kidneys that have been histologically studied have shown cystic dilatations; 28/32 of these fetuses had ultrasonographic manifestations of the disease and/or had sibs with an early‐onset form of it; (2) these cysts can be found in newly formed nephrons (fetus 2), predominantly in the more mature nephrons of the deep cortex (fetus 1) or more sparsely distributed in the cortex (fetus 3); these different patterns may reflect different rates of progression of the disease; (3) in contrast to the histologic findings in adult kidneys, glomeruli seem to be predominantly affected in fetal ADPKD; (4) severe fetal expression of ADPKD seems to cluster in some families; and (5) so far, all DNA analyses performed in families with subjects presenting during the fetal or neonatal period have been consistent with linkage to the PKD1 locus. © 1994 Wiley‐Liss, Inc.
Hormonal regulation in children and adults with Williams–Beuren syndrome
Authors: Partsch C.‐J. , Pankau R. , Blum W. F. , Gosch A. , Wessel A. 
Published: June 2005

AbstractShort stature is found in about 50% of children with Williams–Beuren syndrome (WBS). Disease‐specific growth curves for the syndrome showed the presence of a pubertal growth spurt in both sexes. Detailed investigations on the hormonal regulation in patients with WBS have not been performed. We studied plasma gonadotropins, sex steroids, adrenal androgens, and insulin‐like growth factors (IGF‐I and IGF‐II) and their binding protein 3 (IGFBP‐3) in a large number of WBS patients from infancy to adulthood (n = 23 females, n = 33 males). In most WBS patients, basal LH and FSH levels were within normal limits for age and pubertal stage. Nevertheless, elevated levels for basal LH and FSH were found in 35 and 44% of girls and 3 and 33% of boys, respectively. Estradiol and testosterone levels were elevated in 9.5 and 15.4% of patients, respectively. Dehydroepiandrosterone sulfate levels were elevated for age and pubertal stage in 30% of the girls and in 39% of the boys. IGF‐I was within the reference range in both sexes except for 3 patients who showed slightly decreased levels of IGF‐I. In 9 of 43 patients, IGF‐II levels were decreased below normal. In contrast, 46% of the IGFBP‐3 levels were increased above the reference range. From the 18 patients who underwent GnRH testing, five of six adults showed markedly increased basal and stimulated FSH levels and in most cases also elevated LH levels. Although all adults achieved full sexual maturation (n = 42), the high percentage of decreased testicular volumes (27%) and the results of the GnRH tests suggest a dysfunction of gonadal peptide production and spermatogenesis. The relatively high percentage of elevated gonadotropin and sex steroid levels corresponded well to the early‐normal puberty seen in female WBS patients. In view of the normal IGF‐I levels, growth hormone deficiency is not likely to be the cause of short stature in WBS but rather the aneuploidy effect in a contiguous gene syndrome. © 1994 Wiley‐Liss, Inc.
Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies
Authors: Courtens W. , Petersen M. B. , Noël J. C. , Flament‐Durand J. , Van Regemorter N. , Delneste D. , Cochaux P. , Verschraegen‐Spae M. R. , Van Roy N. , Speleman F. , Koenig U. , Vamos E. 
Published: June 2005

AbstractFoetal blood sampling was performed at 35 weeks of gestation due to abnormal foetal ultrasound findings. There was apparent monosomy 21 (45,XX,‐21) in all mitoses analyzed. The infant died at 37 weeks during delivery. Examination disclosed facial anomalies, clubfeet, hypoplasia of the left urogenital tract, agenesis of corpus callosum, ventricular dilatation, and heterotopias. Reevaluation of the karyotype showed an unbalanced translocation t(1;21) (q44;q22.11) which resulted from a maternal balanced translocation. These findings were confirmed by fluorescence in situ hybridization and molecular studies with chromosome 21 specific markers. The latter showed a proximal deletion of the maternally derived chromosome 21 including all loci from centromere down to the D21S210 locus. This case illustrates the need for complementary cytogenetic and molecular investigations in cases of apparent monosomy 21. © 1994 Wiley‐Liss, Inc.
Fragile X phenotype in a patient with a large de novo deletion in Xq27‐q28
Authors: Albright Susan G. , Lachiewicz Ave M. , Tarleton Jack C. , Rao Kathleen W. , Schwartz Charles E. , Richie Renee , Tennison Michael B. , Aylsworth Arthur S. 
Published: June 2005

AbstractA 2‐year‐old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27‐q28 including deletion of FMR‐1. Molecular analysis of the patient was recently described in Tarleton et al. [1993: Hum Mol Genet 2(11): 1973–1974] and the deletion was estimated to be at least 3 megabases (Mb). His mother had 2 FMR‐1 alleles with normal numbers of CGG repeats, 20 and 32, respectively. Thus, the deletion occurred as a de novo event. The patient does not appear to have clinical or laboratory findings other than those typically associated with fragile X syndrome, suggesting that the deletion does not remove other contiguous genes. This report describes the phenotype of the patient, including psychological studies. © 1994 Wiley‐Liss, Inc.
Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing
Authors: Fisch Gene S. , Nelson David L. , Snow Karen , Thibodeau Stephen N. , Chalifoux Maryse , Holden Jeanette J. A. 
Published: June 2005

AbstractUntil recently, fragile X [fra(X)] syndrome was diagnosed by cytogenetic techniques and/or linkage analysis. Investigation of the mutation at the molecular level has shown that amplification of a polymorphic trinucleotide repeat (CGG) is diagnostic of this syndrome. Fu et al. [1991] observed that between 6–54 copies of the repeat were associated with alleles found in the general population, whereas 50–200 copies were associated with the premutation. In general, differences in copy number between the normal and premutated states are sufficiently large so that the probability of misclassification is, for all practical purposes. zero. However, there is a grey area in which members from both populations overlap. The purpose of our study was to determine the probability of misclassifying an individual from either the general or premutation population. DNA obtained from the general population and transmitting fra(X) females were analyzed from 3 centers in North America: Houston, Texas; Rochester, Minnesota; and Kingston, Ontario. The distribution of normal alleles from Houston was not significantly different from those obtained from Rochester. Therefore, these 2 samples were combined and the pooled distribution of normal alleles was compared with the pooled distribution of premutations. Results indicated that if 50 repeats were used as the cutoff criterion, sensitivity is 100%, specificity is 99.6%, and the probability that an individual has the fra(X) premutation given that the number of repeats is greater than 50 is 95%. Other cutoff criteria (45, 55, 60, 65) employed produced like findings, although 55 repeats appears to be a marginally superior criterion to 50. An independent sample from Kingston was used to verify the original assessments. Results indicated no significant differences when the pooled Houston/Rochester distribution was compared with the distribution of repeats found in the general population from Kingston. Our findings indicate that family studies should be done to establish stability/instability of alleles when more than 55 repeats are found in the proband. © 1994 Wiley‐Liss, Inc.
Behavior problems of young girls with fragile X syndrome: Factor scores on the Conners' parent's questionnaire
Authors: Lachiewicz Ave M. , Dawson Deborah V. 
Published: June 2005

AbstractMothers of 60 girls with fragile X [fra(X)] and 58 controls were asked to fill out the Conners' Parent's Questionnaire to determine if this commonly used checklist would detect behavior problems in young girls with fra(X). The mean T‐scores were significantly different between the 2 groups of girls on 5 of the 6 factors on the Conners' Parent's Questionnaire and the girls with fra(X) had mean T‐scores that were above the average range on both the Anxiety factor and the Hyperactivity Index factor. Significantly more girls had T‐scores greater than 70 (>98th centile) on 3 of the 6 factors. Twenty‐three percent of the girls had T‐scores greater than 70 on the Anxiety factor and 38% of the girls had T‐scores greater than 70 on the Hyperactivity Index factor. This study suggests that some behavior problems will be reported frequently in young girls with fra(X) and should not be difficult for clinicians to detect. © 1994 Wiley‐Liss, Inc.
Apparently enhanced visual information processing in female fragile X carriers: Preliminary findings
Authors: Steyaert J. , Borghgraef M. , Fryns J. P. 
Published: June 2005

AbstractEighteen normally intelligent adult female fragile X carriers were tested with the “de Sonneville Visual Attention Tasks,” a computer‐based set of reaction‐time experiments, in order to assess different aspects of their attention capacity. The subject group was compared with a group of 48 adults, who were not known to be fragile X carriers. We publish preliminary results of this study. These show that the fragile X carriers have significantly faster reaction times at a substantial number of the tests. This suggests that normally intelligent female fragile X carriers might process simple visual information, such as the targets offered in these reaction time experiments, at a faster rate than control women. © 1994 Wiley‐Liss, Inc.
Fragile X founder chromosome effects: Linkage disequilibrium or microsatellite heterogeneity?
Authors: Zhong Nan , Ye Lingling , Dobkin Carl , Brown W. Ted 
Published: June 2005

AbstractPrevious studies of founder chromosome effects in fragile X have been based on linkage disequilibrium with either FRAXAC1 or DXS548 alone or combined with FRAXAC2. Recently, we found no linkage disequilibrium of FMR‐1 with FRAXAC2, but rather, found FRAXAC2 was complex and highly mutable. Therefore, we have now analyzed FRAXAC1 and DXS548 together for haplotypes, two markers which have not been jointly analyzed previously, to test for disequilibrium. We typed 315 fragile X (FX) chromosomes and controls, further subdivided into large controls (LC) and small controls (SC) with ≤35 repeats and identified 26 different haplotypes. Two were more frequent and one less frequent in FX than SCs, thus confirming apparent linkage disequilibrium in fragile X. However, we noted increased FX microsatellite heterozygosity, either individually (results quite similar to previous studies) or as haplotypes. This heterozygosity covaried with FX > LC > SC, which may indicate alternative explanation exists for the apparent disequilibrium. We hypothesize that large FMR‐1 CGG repeat allele genes may be associated with the generation of new microsatellite mutations. Possible mechanisms include gene conversions between CGG repeats and flanking microsatellites involving unequal double cross‐overs, the expansion of small control CGGs to larger sizes associated with episodic generalized microsatellite instability or as a direct result of mutant FMR‐1 gene function. We conclude that the founder effects observed with the use of these CA repeats is likely to reflect both linkage disequilibrium and increased microsatellite instability of fragile X chromosomes. © 1994 Wiley‐Liss, Inc.