bluuebunny/crossref_metadata_2025_split huggingface dataset:
Variable expression of the fragile X syndrome in heterozygous females of normal intelligence
Authors: Wolff Peter H. , Gardner Judith , Lappen John , Paccia Jeanne , Meryash David 
Published: June 2005

AbstractThe cognitive, linguistic and memory functions of non‐retarded fragile X heterozygotes and matched controls were examined by a detailed protocol of neuropsychological measures in order to determine the incidence of specific learning disabilities in this subgroup, and to compare their performance profiles with those of control subjects (mothers of Down syndrome sons). There were no group differences in psychometric intelligence, but the heterozygotes scored significantly lower than controls on most academic achievement tests, as well as on language‐based neuropsychological measures. By neuropsychological criteria, 8 of the 15 heterozygotes, but only one of the controls, exhibited performance profiles consistent with a diagnosis of specific learning disability, and similar to cognitive profiles commonly seen in individuals from the general population with developmental dyslexia.
X‐linked mental retardation with dystonic movements of the hands
Authors: Partington M. W. , Mulley J. C. , Sutherland G. R. , Hockey A. , Thode A. , Turner G. 
Published: June 2005

AbstractWe describe a family with a syndrome of mental retardation, dystonic movements of the hands and dysarthria inherited in an X‐linked recessive pattern. DNA marker studies gave a maximum lod score of 2.11 at θ of 0.00 for DXS41 with a likely localization of the gene to Xpter→Xp21.
Simpson‐Golabi‐Behmel syndrome: Follow‐up of the michigan family
Authors: Opitz John M. , Herrmann Jürgen , Gilbert Enid F. , Matalon Reuben 
Published: June 2005

AbstractHere we report a follow‐up on a boy born in 1983 into a family with presumed Simpson‐Golabi‐Behmel syndrome and first reported as patient 3 by Opitz [1984] under the designation “Golabi‐Rosen” syndrome. The patient died at 25 months without having attained any measure of psychomotor development or maturation and with a neurologic picture of irritability, increased muscle tone, seizures, deafness and possible cortical blindness. He had a striking facial appearance similar to that of severely affected individuals in the family reported by Golabi and Rosen [1984], with mild hepatosplenomegaly, unusual skin, normal growth, decelerating OFC, and on autopsy a spongiform degeneration of brain stem and cerebrum. Results of all biochemical studies, including those pertaining to GM3 gangliosidosis, were normal.
FG syndrome update 1988: Note of 5 new patients and bibliography
Authors: Opitz John M. , Costa Antonio Richieri‐Da , Aase Jon M. , Benke Paul J. 
Published: June 2005

AbstractAt the eve of its mapping, the pre‐molecular picture of the FG syndrome is heavily biased towards the severe end of the phenotypic spectrum because present knowledge is largely based on propositi. It is an X‐linked, incompletely recessive, complexly pleiotropic syndrome with considerably variable expressivity. Though a true multiple congenital anomalies/mental retardation (MCA/MR) syndrome, severe malformations are uncommon and involve mostly the anus (60%) and non‐colonic GI defects (33%), hypospadias (25%), cleft palate (6%), rarely a congenital heart defect. The complex CNS dysfunctions of congenital hypotonia and all of its sequelae, MR, and occasional seizures, must be attributed to a developmental CNS defect which is rarely demonstrated at pre‐mortem, and which is known to involve agenesis of the corpus callosum in some 25% of appropriately studied patients (mostly propositi). Thus, the diagnosis is largely made on a specific constellation of minor anomalies and mild malformations in a hypotonic boy with severe constipation and a very characteristic facial appearance and behavioral phenotype. In about 1/3 of cases, carrier nianifestations may be detected physically. New hemizygote manifestations seen in this review of 5 new patients include abnormal eruption of teeth, diastasis between upper central incisors, apparent gyneccanastia, cleft lip, and nasolacrimal and helicine fistulae. Only a half hundred or so FG syndrom patients are known, but we suspect the syndrme is much more common than realized, and because of the unfortunate recurrence risk potential, deserves careful consideration in every appropriate case.RFLP mapping studies are urged in order to aid diagnosis of “mild” cases, and prenatal and carrier detection.
Screening for the fragile X: How many cells should we analyse?
Authors: Tommerup Niels , Laing Susan , Christensen Ib Jarle , Turner Gillian 
Published: June 2005

AbstractSince nationwide screening for the fragile X would involve the analysis of thousands of individuals within a short period of time, the number of cells, N, which should be analysed is of fundamental importance. When selecting N, the crucial parameter should be the degree of expression of the fragile site in the affected individuals in the population to be screened. However, this degree of expression is not known, and for routine diagnostic purposes, N=100 has been accepted by many centers.By taking data from two large series of affected males/females with a known degree of expression (one series from New South Wales, one from Belgium), we have estimated the fraction of affected males/females which would have been missed if the two series were rescreened with the analysis of less than 100 cells. Assuming that the degree of expression within these two series is similar to the degree of expression in all affected individuals within the two populations, the results indicate that a reduction of N in a screening program, say from 100 to 50 cells, would reduce the detection rate between 1 and 5%. The reduction would be greater in females than in males, and greater in the Belgian than in the Australian population.
Linkage analysis suggests at least two loci for X‐linked nonspecific mental retardation
Authors: Arveiler B. , Alembik Y. , Hanauer A. , Jacobs P. , Tranebjaerg L. , Mikkelsen M. , Puissant H. , Piet L. Larget , Mandel J. L. 
Published: June 2005

AbstractEpidemiological studies have suggested that non‐specific X‐linked mental retardation (XLMR) might be at least as frequent as the fragile X syndrome. The identification of all mutations causing XLMR would thus appear of prime importance. In the absence of other clinical signs the problem of genetic heterogeneity is acute. This can be partly overcome by the analysis of large families. We have been able to perform linkage analysis in 3 such families. The condition in family 1 was described as clinically resembling the fra (X) syndrome by Proops et al [1983]: the kindred includes 7 affected males in 3 sibships. Family 2 from Denmark has affected males in 4 generations; however, several affected relatives in this extended pedigree are deceased. Family 3 from France counts 6 affected males in two sibships. The families were analysed with about 25 X‐linked markers. Linkage with markers in Xp22.2–p22.3 was found in family 1: z(θ) = 2.62 at θ = 0.06 for DXS85 (probe 782). Suggestion of linkage was found in family 2 with both the Duchenne muscular dystrophy region (DXS164 in Xp21.2) and with DXS1 (Xq11–q12). In family 3, DXS159 (Xq12–q13) gave a lod score of 2.53 at 6 = 0; results were compatible with localisation of the putative XLMR locus in this family proximal to DXYS1 (Xq21). These data suggest that at least two non‐specific XLMR loci could exist, one in Xp22 and the other in the q12–q13 region.
A new form of hypohidrotic ectodermal dysplasia
Authors: Viljoen Denis L. , Winship Williams S. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 17‐yr‐old young woman with an apparently new tricho‐onycho‐hypohidrotic ectodermal dysplasia. The manifestations include primary interdigital webbing, contractures of fingers and toes, conjunctivitis from narrowing of nasolacrimal ducts, and a small cortical opacity in the lens of the left eye. Psychosocial problems due to the cosmetic appearance are severe. Cause is uncertain.
Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16
Authors: Chodirker Bernard N. , Ray Manoranjan , McAlpine Phyllis J. , Riordan Diane , Vust Alice , Pugh Dora , Chudley Albert E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present a girl with ring chromosome 16. Clinical abnormalities included developmental delay, short stature, and minor facial anomalies. Analysis of the glutamatepyruvate transaminase (GPT) phenotype suggests the possible exclusion of the GPT locus expressed in erythrocytes (GPT) from the very distal p13 region of chromosome 16.
Hypomagnesemia masking the appearance of elevated parathyroid hormone concentrations in familial pseudohypoparathyroidism
Authors: Allen David B. , Friedman Aaron L. , Greer Frank R. , Chesney Russell W. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA 21–yr–old postpartum woman was found to be hypocalcemic and hypomagnesemic with a normal serum immunoreactive parathormone level (hypomagnesemic hypoparathyroidism). She was treated with calcitriol, calcium and magnesium. Two yr later the patient's son presented with tetany, hypocalcemia and the physical changes of pseudohypoparathyroidism. Subsequently, the patient's niece and nephrew were also diagnosed with pseudohypoparathyroidism (low serum calcium, high serum phosphorus, high circulating immunoreactive parathormone). Re‐evaluation of the patient on the above medical therapy showed a normal serum calcium, phosphorus and magnesium levels and an abnormally high serum immunoreactive parathormone level. The patient's magnesium supplementation was discontinued. No change in serum calcium, magnesium or parathormone levels resulted.We think that this patient demonstrates that hypomagnesemia can mask the laboratory presentation of pseudohypoparathyroidism by suppressing secretion of parathormone and further demonstrates that in pseudohypoparathyroidism the parathyroid gland retains its physiologic response to hypomagnesemia.
Fraser syndrome (cryptophthalmos‐syndactyly syndrome): A review of eleven cases with postmortem findings
Authors: Boyd P. A. , Keeling J. W. , Lindenbaum R. H. , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractDetailed postmortem findings from 11 cases of probable Fraser (cryptophthalmos‐syndactyly) syndrome are reported. Eight cases presented as neonatal deaths, one as a stillbirth, and there were 2 midtrimester fetuses. All of the cases had ocular, otic, digital, laryngeal, and renal abnormalities. Details of the pregnancies and sibship data are also reported. The possibility of prenatal diagnosis for this syndrome is discussed.
Holzgreve‐Wagner‐Rehder syndrome: Potter sequence associated with persistent buccopharyngeal membrane. A second observation
Authors: Legius E. , Moerman Ph. , Fryns J. P. , Vandenberghe K. , Eggermont E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractHere we present a second example of the syndrome first reported by Holzgreve et al. [1984] in this journal, i.e., Potter sequence with persistent buccopharyngeal membrane type II, Postaxial polydactyly, cleft palate, cardiac anomalies, intestinal nonfixation, and intrauterine growth retardation. This specific complex MCA syndrome is not associated with a detectable chromosome abnormality.
Cleft lip and handedness: A study of laterality
Authors: Yorita Glenn J. , Melnick Michael , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractResearch on the malformation cleft lip with or without cleft of the palate is complex and may involve studies of etiology, pathogenesis, natural history, and other disease associations. One of the more intriguing areas of study is developmental lateralization. The 3 extant reports of the relationship between laterality of cleft lip and handedness are in conflict. The purpose of the present study is an attempt to resolve the confusion and to explore possible hypotheses that could explain the data.A random sample of 149 probands with unilateral cleft lip ± palate was ascertained from 2 Los Angeles area hospitals. Laterality of clefting and handedness was determined for each, the former by inspection and the latter by the method of Oldfield [1971]. Information was also obtained on the nuclear family about the number of sibs, presence of clefting, and handedness of he probands' parents. The probability of non‐right‐handedness (NRH) was much greater for probands with left‐sided cleft lip than those with right‐sided cleft lips; this was independent of the proband's sex. The cleft lip laterality in probands was independent of parental handedness, suggesting that the significantly increased frequency of left‐sided clefting and NRH is embryologic in origin and may have a common etiology and/or pathogenesis. Several explanations are proposed and discussed.
Marfan syndrome: Neuropsychological aspects
Authors: Hofman Karen J. , Bernhardt Barbara A. , Pyeritz Reed E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe evaluated the neurodevelopmental status and cognitive ability of 30 school‐age children with Marfan syndrome. We found average intellectual (mean full scale IQ = 109.3) and gross motor development. Fifty percent had one or more neuropsychologic deficits: learning disability (LD) (13%), attention deficit disorder with or without hyperactivity (ADD ± H) (17%), neuromaturational immaturity (NMI) (10%), and a performance IQ score different from their verbal score by more than 20 points (30%). Patients with a large verbal‐performance discrepancy, with one exception, scored lower on tests of performance, and particularly low on two subtests, object assembly and coding, compared with the rest of the patients (P < 0.01). The factor most highly correlated with verbal‐performance discrepancy was the severity of joint hypermobility (P = 0.02), which suggests that the depressed performance score was due, in part, to motor incoordination. Children with Marfan syndrome may be prone to neuropsychologic problems; the role of routine screening remains to be tested. Those with hand‐wrist hypermobility seem at particular risk for difficulties with tasks that involve writing and should receive careful evaluation in the classroom. Due to the high risk of aortic dilatation in these patients, if stimulant medications are considered for treatment of ADD ± H, the risk of adverse sympathomimetic effect should be weighed against the potential benefit.
Severe congenital cutis laxa with pulmonary emphysema: A family with three affected sibs
Authors: Van Maldergem L. , Vamos E. , Liebaers I. , Petit P. , Vandevelde G. , Simonis‐Blumenfrucht A. , Bouffioux R. , Kulakowski S. , Hanquinet S. , Van Durme P. , Laporte M. , Ledoux‐Corbusier M. , Reynolds James F. , Neri Giovanni 
Published: June 2005

AbstractClinical and morphologic findings in 3 sibs with congenital cutis laxa are presented. A severe urinary malformation in one affected infant is reported in detail. Elevated serum copper concentrations were observed in 2 of the sibs and in the healthy mother. However, the 64Cu uptake of fibroblast cells from tissue culture was not increased. Ultrastructural pathologic findings from skin biopsies have been studied and compared at birth and at age 2 years. The lack of junction between the 2 elastic fiber components was similar. Further evidence for clinical heterogeneity of this disease is stressed.
Recurrence risks for relatives in families with an isolated case of the fragile X syndrome
Authors: Sherman Stephanie L. , Rogatko André , Turner Gillian , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe proportion of sporadic cases among affected males with fragile X‐related mental impairment was reinvestigated in a new sample of family data and compared to previous studies. It was found that the estimate has increased over time from 0 in the original study to 0.24 in the present study. This difference indicated that the correction used for the ascertainment of families in the original study may not have been adequate and that the suggestion that all mothers of affected males are obligate carriers may be wrong. Based on this new information, recurrence risks for relatives in a family with an isolated case of the fragile X or Martin‐Bell syndrome were calculated under different assumptions in order to investigate the effect the effect of (1) the knowledge of the phenotype of ancestors of the proband, (2) the dependence of expression of the mutation on the sex of the carrier parent, (3) the value of the penetrance of mental impairment (MI), and (4) the equality of mutation rates in egg and sperm. The assumptions made for modelling the mutational process had the greatest effect on the recurrence risk in sibs of an isolated case, whereas small differences in penetrance parameters and assumptions based on whether the ancestors were known to be normal or of unknown phenotype made little difference. Recurrence risks for the sibs and first cousins of an isolated case calculated under different assumptions are presented.
The use of early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal fragile X chromosome diagnosis
Authors: Butler Merlin G. , Dev Vaithilingam G. , Shah Dinesh , Ulm Janet E. , Wilmot Patrick L. , Shapiro Lawrence R. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractEarly simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal diagnosis were undertaken for the first time in a 17‐week gestation fetus at risk for the fragile X [fra (X)] syndrome. Metaphase spreads from 300 fetal lymphocytes were examined within 5 days following PUBS, while approximately 5 weeks were required for the analysis of 148 amniocytes. The chromosomes were interpreted as normal (46,XX) and the fetus as fragile X‐negative at the time of prenatal diagnosis. This was cytogenetically confirmed after delivery of a healthy term female infant. Our results suggest that early PUBS may become a useful adjunct to amniocentesis because of shorter culture time and earlier diagnosis.
Isochromosome 12p mosaicism (Pallister‐Killian syndrome): Newborn diagnosis by direct bone marrow analysis
Authors: Ward Brian E. , Hayden Melody W. , Robinson Arthur , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA patient who exhibited the phenotype of the Pallister mosaic aneuploid syndrome was cytogenetically diagnosed in the newborn period by bone marrow analysis. A 47,XY,i(12p) karyotype was observed in 100% of the metaphases from direct bone marrow preparations, while phytohemagglutinin (PHA)‐stimulated bone marrow was 23% isochromosome positive. Initially, 10% of metaphases from a peripheral blood culture were isochromosome positive, but at 2 months of age all metaphases examined were cytogenetically normal. Serial fibroblast cultures were 75%, 100%, and 28% positive, respectively. The isochromosome was also present in all metaphases examined from lung tissue and testes. This karyotypic pattern supports a theory that tissue‐limited mosaicism may result from selection due to differing developmental potentials of certain karyotypes in various tissues.
New chromosome aberration: Duplication of a large part of chromosome 4q and partial deletion of chromosome 1q
Authors: Merlob Paul , Kohn Gertrude , Litwin Aviva , Nissenkorn Ilana , Katznelson Mariasa Bath‐Miriam , Reisner Salomon H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a preterm female infant with multiple anomalies who has a duplication of a large part of 4q and partial deletion of chromosome 1q. Her karyotype was interpreted to be 46,XX,−1, + der(1),t(1;4) (q44;q23 or 24)mat. She is the first patient with an unbalanced translocation involving chromosomes 4 and 1. There is a substantial amount of concordance between the phenotypic features of this patient and those described in the context of partial deletion 1q. The extensive duplication of 4q has no dominant clinical effects in the present infant. These facts support the general concept of much more deleterious effects of deletions versus duplications in human species.
Deletion of terminal portion of 6q: Report of a case with unusual malformations
Authors: Shen‐Schwarz Susan , Hill Lydon M. , Surti Urvashi , Marchese Sandra , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present the necropsy findings of a 21‐weekgestation male fetus with deletion of the terminal portion of long arm of chromosome 6 [46,XY,del(6)(q23→qter)]. Major anomalies include intrauterine growth retardation, facial anomalies, nuchal cyst, scoliosis, bilateral diaphragmatic hernias, persistent common atrioventricular canal, absent olfactory bulbs and agenesis of corpus callosum. In aberrations of chromosome 6q, patients usually have psychomotor retardation, somatic growth failure, and facial anomalies; nuchal cyst and bilateral diaphragmatic hernias have not yet been described.
Mild Brachmann–de Lange syndrome: Changes of phenotype with age
Authors: Greenberg Frank , Robinson Luther K. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present a girl with mild manifestations of the Brachmann‐de Lange syndrome (BDLS) with gradual change of the phenotype. Her findings support the hypothosis of variability of the phenotypic spectrum of the disorder.
Orofaciodigital syndrome type IV: Report of a patient
Authors: Nevin N. C. , Thomas P. S. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a further patient with the orofaciodigital syndrome type IV. The clinical characteristics include lobulated tongue, pseudo‐cleft of lip, pre‐ and postaxial polydactyly of hands and feet, severe talipes equinovarus, mesomelic limb shortness associated with tibial hypoplasia, and severe bilateral deafness. Five similar cases including the present patient are now on record. Autosomal recessive inheritance is likely.
McKusick‐Kaufman syndrome: Report of an instructive family
Authors: Vince John D. , Martin Nicole J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two sisters and their brother, all of whom are affected by McKusick‐Kaufman syndrome. This sibship confirms autosomal recessive inheritance and the occurrence of the syndrome in Melanesians. It also demonstrates multisystem involvement in both sexes and illustrates difficulties in the diagnosis and management of hydrocolpos.
A new syndrome with distinct facial and auricular malformations and dominant inheritance
Authors: Simosa Venancio , Penchaszadeh Victor B. , Bustos Tania , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no “whistling” face or deviation of fingers. Although resembling in some ways the Freeman‐Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X‐linked dominant.
Congenital pulmonary atresia with intact ventricular septum, tricuspid insufficiency, and patent ductus arteriosus in two sibs
Authors: Eriksen Nancy L. , Buttino Louis , Juberg Richard C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractPulmonary atresia comprises only 1% of all congenital heart defects. Counseling the parents on recurrence risks is difficult. We present a rare case of pulmonary atresia in two sibs, along with a review of the literature.
Rhesus sensitization after midtrimester genetic amniocentesis
Authors: Brandenburg H. , Jahoda M. G. J. , Pijpers L. , Wladimiroff J. W. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIn 944 Rh‐negative patients who received rhesus immunoglobulin (anti‐D) following genetic amniocentesis, not a single case of Rh sensitization occurred. Routine administration of a small dose (100 μg) of anti‐D is effective in preventing Rh sensitization after midtrimester amniocentesis.