bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cognitive profiles of boys with the fragile X syndrome
Authors: Kemper Melinda B. , Hagerman Randi J. , Altshul‐Stark Debra 
Published: June 2005

AbstractTesting 20 boys with the fragile X (or Martin‐Bell) syndrome with the Kaufman Assessment Battery for Children (K‐ABC) showed a consistent pattern of strengths and weaknesses that may be useful in predicting a fragile X positive result from cytogenetic testing. This K‐ABC pattern included 1) Sequential Scale score less than the Simultaneous Scale score; 2) Mental Processing Composite less than the Achievement Scale score; 3) Spatial Memory subtest score less than the Matrix Analogies subtest score; and 4) Arithmetic subtest score less than the mean of the Achievement subtest scores. A comparison group of 20 boys did not demonstrate such a pattern. Testing with the K‐ABC should be considered for boys who present as learning disabled, hyperactive with attentional problems, or mildly retarded. Boys with three or four of the four features of the K‐ABC fragile X pattern should be considered for medical evaluation and cytogenetic testing.
Experience with multiple approaches to the prenatal diagnosis of the fragile X syndrome: Amniotic fluid, chorionic villi, fetal blood and molecular methods
Authors: Shapiro Lawrence R. , Wilmot Patrick L. , Murphy Patricia D. , Breg W. Roy 
Published: June 2005

AbstractWe have had experience with 160 prenatal diagnosis cases for the fragile X syndrome [fra(X)] or Martin‐Bell Syndrome. In 140, amniotic fluid was utilized; 98 had a documented family history of fra(X). The 94 completed cases included 4 no growth; 56 males of which 7 were fra(X)‐positive and 2 false‐negative; 38 females of which 5 were fra(X) positive. There was no fra(X) positive result when a family history of mental retardation was not documented as fra(X). Molecular methods (RFLPs) were utilized in 10 amniotic fluid and 5 chorionic villus specimens (CVS). Percutaneous umbilical blood sampling was used in 2 negative cases and 1 fra(X) positive case because of timing, tissue culture failure or confirmation of another method. CVS were received in 13 cases, and RFLPs were utilized in 5 of the CVS cases. There was no positive fra(X) CVS chromosome result in males, 1 positive result in a female, but 2 false negatives were detected by RFLPs.
Folic acid treatment of fragile X males: A further study
Authors: Fisch Gene S. , Cohen Ira L. , Gross Anne C. , Jenkins Valerie , Jenkins Edmund C. , Brown W. T. 
Published: June 2005

AbstractInvestigations of the effect of high dose folic acid treatment of fragile X syndrome in males has produced mixed results. However, no study had examined the possible drug effects of folic acid on non‐fragile X control males. Therefore, we examined the effect of folic acid on fragile X males using non‐fragile X control males. Subjects were assigned randomly to an ABA or BAB design. Duration of either folic acid or placebo condition was 4 months. Folic acid or placebo was given in a double‐blind fashion. At the end of each condition, the subjects' behavior was assessed.At the end of the study, parents were asked to complete a questionnaire. Using parents' responses, we examined 22 items on the Autistic Descriptors Checklist and two subscales from the Vineland Adaptive Behavior Scale which corresponded to areas of behavior parents' noted to have shown improvement. We did not find significant differences between fragile X males and control males, within subjects, nor across folic acid and placebo conditions.Thus, our follow‐up study confirms and extends our original findings, as well as those of other researchers: namely, that no dramatic changes in behavior result from high dose folic acid. Moreover, subtle improvements observed in earlier investigations were not confirmed.
Inactivation pattern of the fragile X in heterozygous carriers
Authors: Fryns Jean‐Pierre , Berghe Herman Van Den 
Published: June 2005

AbstractIn this report we present new data on BrdU‐inactivation studies in lymphocytes of five heterozygotes.The present data confirm our previous findings that the prediction of the mental status of female heterozygote carriers cannot be based on the X‐inactivation pattern. The general tendency to carry the fragile site on the active X is confirmed and the results of previous studies and hypotheses are reviewed.
Fragile (X) expression, age and the degree of intellectual handicap in the male
Authors: Turner Gillian , Partington Michael W. 
Published: June 2005

AbstractThe proportion of cells expressing the fra(X) was compared to the guardian's opinion of who was the “brighter” in 31 sibships of 2 or more affected males. Six fra(X) positive males in the normal workforce were compared in a similar way to other affected relatives. A correlation was found between lower values of expression and “brightness” by the Wilcoxson signed rank test (<0.01, 2‐tail). A decline in fra(X) expression occurs with age. Some apparently normal non‐expressing transmitting males may be accounted for by these findings.
Multipoint linkage of 9 anonymous probes to HPRT, factor 9, and fragile X
Authors: Brown W. Ted , Ye Wu , Gross Anne C. , Chan Colin B. , Dobkin Carl S. , Jenkins Edmund C. 
Published: June 2005

AbstractWe have analyzed the segregation of restriction fragment length polymorphisms (RFLPs) associated with 9 anonymous probes detecting loci DXS10, DXS15, DXS19, DXS37, DXS51, DXS52, DXS98, DXS99, and DXS100 and probes for HPRT and F9 in a set of 40 families segregating fragile X (fra(X)). Using two‐point and multipoint analysis, we have established their relative genetic locations. The results indicate that DXS99 and DXS10, unlike previous reports, are not tightly linked to F9. A new locus was found to map within the F9 ‐ fra(X) region. DXS98 showed 6% recombination with fra(X) and appeared to be the closest locus to fra(X). These results will be useful for mapping the relative position of newly defined X probes in this region and for future genetic studies of families with fra(X), hemophilia B, or Lesch‐Nyhan mutations.
Pulsed‐field gel mapping studies in the vicinity of the fragile site at Xq27.3
Authors: Patterson M. , Bell M. , Schwartz C. , Davies K. 
Published: June 2005

AbstractPhysical mapping strategies are being employed for an analysis of the fragile X site region. Deletion breakpoints which may be close to the fragile site appear to be at a distance of at least several hundred kb from the nearest DNA probes. Further evidence is found for physical linkage between St14 (DXS52), DX13 (DXS15) and MN12 (DXS33). The data indicate differences in CG content and/or methylation levels between the distal and proximal sides of the fragile site.
Investigation of the twinning rate in families with the fragile X syndrome
Authors: Sherman S. L. , Turner G. , Sheffield L. , Laing S. , Robinson H. 
Published: June 2005

AbstractAn excess of twins in families with the Martin‐Bell or fra(X) syndrome was noted previously in one family study [Fryns, 1986]. We tried to confirm this observation in a second large sample of families from a different population. We calculated the number of twin births among the total number of live births of known obligate carriers found in fra(X) families ascertained in New South Wales, Australia. We only included births of known sex and excluded triplets. There were 5 male pairs, 3 female pairs and 9 unlike sex pairs of twins born among 752 live births. Thus the twining rate was 1/44 per live birth. We compared this rate to that found in two different types of individuals: 1) the rate of 1/96 which was obtained from the 1985 vital statistics for New South Wales, and 2) the rate 1/75 obtained from a sample of live births of obligate carriers with hemophilia A. The increase in twinning among heterozygotes with the fra(X) was highly significant when compared to the census data (p<0.001). However, it was not significantly different from that in the hemophilia data (p<0.05) which were collected in the same way as in the fra(X) families.
Fragile X syndrome: Incidence, clinical and cytogenetic findings in the black and white populations of South Carolina
Authors: Schwartz C. E. , Phelan M. C. , Pulliam L. H. , Wilkes G. , Vanner L. V. , Albiez K. L. , Potts W. A. , Rogers R. C. , Schroer R. J. , Saul R. A. , Prouty L. A. , Dean J. H. , Taylor H. A. , Stevenson R. E. 
Published: June 2005

AbstractIndividuals in South Carolina with the Fragile X [ fra(X) ] or Martin‐Bell syndrome have been ascertained by referral for evaluation of facial abnormalities, macroorchidism or mental deficit; by screening patients in residential and day programs for the mentally retarded; and by family follow up after an index case has been identified. Between 1982 and 1987, 100 positive fra(X) males were diagnosed. Of these, 35 were residents of residential facilities for the mentally retarded representing 2.5% of the population of institutionalized males. Another 23 were found in community day programs for the mentally retarded. Of these 58 cases, 28 (48%) were ascertained by screening for the craniofacial characteristics of the Martin‐Bell syndrome, namely long face, midface hypoplasia, prominent forehead, large mandible and large simple pinnae. Although this screening procedure proved to be productive, it was found that the craniofacial traits of long face, midface hypoplasia, large jaw and simple pinnae were found less frequently in black fra(X) positive males and in prepubertal boys of both races.
The fragile X in sicily: An epidemiological survey
Authors: Neri G. , Sanfilippo S. , Pavone L. , Mollica F. , Barberi I. , Giuffre L. , Romano C. , Mattina T. , Cammarata M. , Ragusa M. G. , Sammito V. , Ventimiglia G. , Musumeci S. A. 
Published: June 2005

AbstractWe have studied a group of 349 institutionalized propositi with mental retardation, and found 12 fra(X)‐positive cases among 155 males (7.7%) and 8 fra(X)‐positive cases among 194 females (4.1%). The males had characteristic manifestations of the Martin‐Bell syndrome. Another 7 males, who were initially considered “borderline”, having expression of fra(X) < 4% and a non‐characteristic phenotype, were eventually considered negative.Among 5,624 patients (2,764 males and 2,860 females) that were admitted to the Pediatric Department of the University of Catania during the period July 1986 ‐ June 1987, 210 (120 males and 90 females) had mental retardation. Of these, 75 were analyzed for the presence of fra(X) (q27.3); 5 males (0.18% of all males) and 2 females (0.07% of all females) were fra(X)‐positive. The males had the Martin Bell syndrome phenotype.
Fragile X families in a Northern Swedish county ‐ a genealogical study demonstrating apparent paternal transmission from the 18th century
Authors: Holmgren Gösta , Son Blomquist Hans K. , Drugge Ulf , Gustavson Karl‐Henrik 
Published: June 2005

AbstractEleven families including 35 cases with fra(X) mental retardation (MR) were traced genealogically using the Research Archives at Umeå University. Seven of the cases were women with fra(X). All of the families originated partly or totally from the county of Västerbotten. It was possible to link 7 of the index families to common ancestors over an 8–11 generation span. The remaining 4 families were not traced to the same ancestors. However, they were linked together pair‐wise over a 7–8 generation span. Transmission of the fra(X) mutation was studied in these families. In the pedigree analyses, priority was given to maternal transmission. In 2 families the fra(X) mutation was transmitted solely through females over 7 or 8 generations respectively. Within 9 families the mutation was transmitted by males in 2–5 generations in order to reach common ancestors.
Pregnancy in women with cerebrotendinous xanthomatosis (CTX): High risk condition for fetus and newborn infant?
Authors: Berginer V. M. , Carmi R. , Salen G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractCerebrotendinous xanthomatosis (CTX), is one of the few autosomal recessive progressive storage diseases allowing affected individuals to reproduce. We investigated 38 CTX patients and most of their families. The possibility of a high risk situation for the fetus and/or the apparently healthy newborn infant born to CTX mothers and female carriers of the gene is discussed for genetic counseling purposes and in view of available treatment.
Arachnodactyly and unusual dermatoglyphics: Study of a case
Authors: Krush Anne J. , Schaumann Blanka A. , Youssoufian Hagop , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractClinical and dermatoglyphic findings are reported on a 3–yr old girl with multiple congenital anomalies and unusual dermatoglyphics. The anomalies, including contractural arachnodactyly, rhizomelia (a relative shortening of the proximal segment of the limbs), skin dimples, clinodactyly, disharmonic hand bone maturation, absent, hypoplastic and unusually positioned digital and metacarpophalangeal flexion creases, are not indicative of Marfan syndrome, but it is unclear what this syndrome constitutes. Among the child's most striking dermatoglyphic features, the fingertip patterns (mostly large whorls with extralimital triradii) extend proximally to the middle phalanx and are associated with unusually placed triradii. The furrows between the epidermal ridges are narrower on the volar aspects of the middle and distal phalanges than on the proximal phalanges and palms, resulting in a higher ridge density in the former areas. Dermatoglyphic comparisons between the proposita and her parents are provided. These dermatoglyphic aberrations may indicate the presence of a deleterious agent active during the period of the development of the ridge configurations and of the digital flexion creases.
Achondroplasia with ankylosing spondylitis
Authors: Randolph L. M. , Shohat M. , Miller D. , Lachman R. , Rimoin D. L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA 41‐year‐old‐white man with achondroplasia has been followed intermittently since age 27. During this time, he has complained of neck and back pain with limited mobility in both. Other problems have included temporomandibular joint pain, dysuria without apparent urinary tract infection iritis, anemia, and an elevated gamma globulin fraction. Recently he returned to the clinic complaining of rigidity of the entire spine. Radiographs showed complete fusion of the sacroiliac joints and fusion of the cervical vertebral bodies and apophyseal joints, consistent with ankylosing spondylitis. He was found to be HLA B‐27 positive. This case illustrates the importance of considering other diseases whenever atypical orthopedic problems arise in patients with a bone dysplasia.
Cohen syndrome: A connective tissue disorder?
Authors: Méhes Károly , Kosztolányi György , Kardos Maria , Horváth Magdolna , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractMitral valve prolapse and severe gastroesophageal reflux with hiatal hernia were found in a girl aged 2 years, 4 months with Cohen syndrome. The clinical manifestations suggest the presence of a connective tissue disorder in the patient.
The ascertainment sampling problem and estimation of genetic parameters when parental haplotypes are known
Authors: Shute Nereda C. E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractComparisons of bias and standard errors of genetic parameter estimates arising from various estimation procedures are made by using contrived genetic data in which parental haplotypes are known in addition to the haplotypes of affected sibs. These comparisons show that knowledge of parental haplotypes can reduce standard errors of genetic parameter estimates by between 10% and 45% as compared to estimates when parental information is not available. The added information does not appear to change the standard errors of ascertainment–assumption–free estimates relative to those from classical methods. This implies that the decision to accept possible bias arising from a classical estimation method or to accept slightly increased standard errors under an ascertainment–assumption–free approach is comparable to that involved when parental haplotypes are unknown.
Insertional translocations: Report of two new families and review of the literature
Authors: Abuelo Dianne N. , Barsel‐Bowers Gail , Richardson Anne , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe two families with insertional translocations. In the first, a large family ascertained because of repeated pregnancy loss, the insertional translocation, ins(1;3)(q32;p13pter), was found to be segregating through three generations. In the second family, ascertained through a proposita with congenital malformations, multiple spontaneous abortions also occurred. The father had an insertional translocation, inv 4(p14,q21.1)ins(7,4)(q32;q21.1 q23). These cases illustrate that recurrent fetal wastage may be caused by insertional translocations and in fact may be the only clinical manifestation of this unusual type of chromosome rearrangement.
Meckel syndrome with polysplenia: Case report and review of the literature
Authors: Shen‐Schwarz S. , Dave H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA 19‐week gestation female fetus had multiple anomalies suggesting Meckel syndrome with polysplenia. In over 200 reported cases of Meckel syndrome, only 2 similar cases are documented. Both were male infants, one with bilateral left‐sidedness (polysplenia), the other with bilateral right‐sidedness (M‐anisosplenia). Meckel syndrome is a complex MCA (multiple congenital anomaly) syndrome. Thus, the finding of polysplenia is to be interpreted as another such midline anomaly, rather than as a causally independent malformation.
A liveborn infant with tetraploidy
Authors: Lafer C. Z. , Neu R. L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on an 22‐month‐old white girl with tetraploidy who is growing well, but who is extremely delayed in psychomotor development. When counseling parents it is important to realize that, although quite rare, tetraploid individuals can be born alive and live for at least 22 moths. The implications are also relevant to prenatal diagnosis.
Angular homeostasis II: Pursuit of a moving target in a plane and some implications for cardiac teratology
Authors: Sagawa Y. , Berger K. R. , Trojak J. E. , Brown K. L. , Murphy E. A. , Opitz John M. 
Published: June 2005

AbstractA model of cardiac ontogenesis is analyzed. It is cast in terms of the geometry of the pursuit of a linearly moving target by the growth of a chain of cells in the same plane, the pursuer, which at each step adjusts its direction of growth towards the current position of the target. The endpoint is the fusion between them, which can occur in 2 modes: either by the leading cell of the pursuer catching up with the target (pursuer‐mediated fusion, or PMF) or by the target running into the preformed side of the pursuer (target‐mediated fusion, or TMF). The causal specifications are the step size, the speed of the pursuer, the speed of the target, the restoration constant, and the initial direction of the pursuer; the outcome variables are the number of steps to fusion and the mode of fusion. The pattern of behavior is complicated, being more‐or‐less regular over large tracts of values, interspersed with abrupt, threshold‐like changes that may generate a dichotomous pattern of inheritance despite a continuous gradation of genetic of other causes. The temporary abolition of the correction process (a change introduced to simulate the pattern of the effect of a teratogen) may delay fusion and suggest how a septum may fail to fuse, the ductus arteriosus to close, or an endocardial cushion to form. But the model also predicts that under certain plausible conditions, the “teratogen” would speed up fusion and hence perhaps offset a genetic predisposition to a congenital defect.
Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis
Authors: Baker Richard H. , Heinemann M.‐H. , Miller Helen H. , DeCosse Jerome J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOphthalmic examinations were performed on 56 patients with validated familial adenomatous polyposis (FAP) for hyperpigmented defects of the retinal pigment epithelium. Such lesions were seen bilaterally in 29 patients (52%) and unilaterally in 8 patients (14%). Of the 56 patients, 33 had one or more of the extracolonic expressions associated with Gardner syndrome. We found retinal lesions in 8 patients without any of the expressions of Gardner syndrome. No association was found between Gardner syndrome and the retinal lesions when these patients were compared to patients without any stigmata of Gardner syndrome, nor was any significant association found when each of the expressions was compared individually with the presence of the pigmented retinal lesions. The presence or absence of eye findings were seen to cluster within families. There was no association with sex. Fundus lesions are apparently a variable expression of the FAP gene and are not specifically associated with Gardner syndrome.
Genetic prediction in X‐linked agammaglobulinaemia
Authors: Lau Y. L. , Levinsky R. J. , Malcolm S. , Goodship J. , Winter R. , Pembrey M. , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractS21 (DXS17) and pXG12 (DXS94), two probes linked to the locus of X‐linked agammaglobulinaemia (XLA), were used for genetic prediction in 13 such families. A method of allowing for nonallelic genetic heterogeneity was demonstrated in the calculation of the genetic risks, specifying a certain proportion of unlinked families. We further estimated the impact due to the uncertainty of the proportion of unlinked families on the final genetic risks in each family and this can be taken into account during genetic counseling.
Do some patients with fragile X syndrome have precocious puberty?
Authors: Butler Merlin G. , Najjar Jennifer L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on an 81½‐year‐old white girl with fra (X) syndrome; she had mental deficiency, hyperactivity, speech disturbances, slightly prominent ears, mild joint laxity and 20% fra (X) expression. Additional findings include idiopathic precocious puberty and a right ovarian cyst. Ovarian cysts have been reported previously in heterozygous females, but to our knowledge idiopathic precocious puberty is a new finding in this syndrome. Whether precocious puberty is a coincidental finding in this patient or a previously unreported manifestation of the fra (X) syndrome is not clear.
Prader‐Willi habitus, osteopenia, and camptodactyly (Urban‐Rogers‐Meyer syndrome): A probable second report
Authors: Pagnan Nina A. B. , Gollop Thomaz Rafael , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractHere we describe a 12‐year‐old boy with finger and toe contractures, obesity, mental retardation, osteoporosis, and genital anomalies. This clinical picture was first described by Urban et al. [1979] and has been designated as “Prader‐Willi habitus, osteoporosis, and hand contractures.” To our knowledge, our patient represents the second report of this condition.