bluuebunny/crossref_metadata_2025_split huggingface dataset:
A goodness‐of‐fit test for the polygenic threshold model: Application to multiple sclerosis
Authors: Sadovnick Adele D. , Spence M. Anne , Tideman Susan 
Published: June 2005

AbstractRecently it has been suggested that multiple sclerosis may be a multifactorial disorder. We found in British Columbia 364 families (sibship size ⩾ 2) in which at least one sibling was diagnosed as having “clinically definite” multiple sclerosis. The data were tested for goodness‐of‐fit to the multifactorial model using an analysis that considers various parameters including ascertainment probability, heritability, and sex‐dependent prevalence rates. The results suggest that multiple sclerosis does not fit the multifactorial model. As an alternative genetic model we propose that a major gene could be responsible for at least a portion of the cases of multiple sclerosis.
Autosomal dominant cone‐rod dystrophy: A linkage study with 17 biochemical and serological markers
Authors: Ferrell Robert E. , Hittner Helen Mintz , Chakravarti Aravinda , Opitz John M. 
Published: June 2005

AbstractFive generations of a family with autosomal‐dominant cone‐rod dystrophy (CRD) with complete penetrance have been previously studied extensively clinically. The young members of this family were reevaluated, and blood from 73 available family members was studied with 17 biochemical and serological markers. A total of 25 relatives was found to be affected. Linkage between the gene for CRD in this family and the markers studied could not be established by maximum likelihood analysis.
Duchenne muscular dystrophy carrier detection using logistic discrimination: Serum creatine kinase and hemopexin in combination
Authors: Percy Maire E. , Andrews David F. , Thompson Margaret W. , Opitz John M. 
Published: June 2005

AbstractCreatine kinase (CK) activity and hemopexin concentration were measured in 208 serum samples from 104 normal females and 22 obligate carriers of Duchenne muscular dystrophy (DMD) 20–40 years old. Logistic discrimination was used to assess the effectiveness of the parameters alone or in combination in identifying DMD carriers. In this approach, a serum sample with particular CK, hemopexin, or a combination of CK and hemopexin values is given a probability that if drawn at random from a defined mixture of controls and carriers, it comes from a carrier. The carrier probability based on the biochemical tests can be directly combined with the carrier probability determined from a woman's pedigree to yield a final posterior probability that she is a carrier.When CK and hemopexin were considered individually, 65 and 27% of the carriers, respectively, could be distinguished from 95% of the controls. When the two tests were used in combination, 82% of the carriers could be distinguished from 95% of the controls. When the two‐test method was applied to 93 possible carriers, 35 women were classified as carriers, whereas only 29 were identified using CK alone. This method can be extended to include other variables in order to further improve the identification of DMD carriers. It can also be applied to carrier detection in other genetic disorders.
Historical note: The extraordinary handless and footless families of Brazil – 50 years of acheiropodia
Authors: Freire‐Maia Ademar , Opitz John M. 
Published: June 2005

AbstractThe history of acheiropodia is divided into 4 phases: discovery, exploration, modern studies, and contemporary knowledge. The discovery phase (1929–1930) is represented by the publication of the 1st family. For about 30 years, it remained the only family referred to in a number of textbooks of medicine, biology, and others. In the exploration phase (1956–1966), the first family was reanalyzed, other families were ascertained and analysed, and some radiologic aspects of the anomaly were published. The modern phase (1968–1972) is characterized by a large series of studies on the clinical aspects of acheiropodia, including laboratory and radiological examinations, psychological tests, status of vision, electrocardiograms, etc. In the contemporary phase (since 1974), genetic aspects prevailed, and studies were published on segregation analysis, selection pressure, genetic load, mutation rate, etc. Each one of these 4 phases is analyzed in detail.
Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspring
Authors: Williamson Roger A. , Donlan Michael A. , Dolan Cynthia R. , Thuline Horace C. , Harrison Mary T. , Hall Judith G. , Opitz John M. 
Published: June 2005

AbstractThe use of elongated prophase and prometaphase chromosome preparations has allowed detection of an insertion of a small segment of 3q into 11q in a kindred with 4 balanced carriers and 8 unbalanced offspring. Those with partial 3q deletion have a true multiple congenital anomalies/mental retardation (MCA/MR) syndrome with an appearance suggestive of the Schwartz‐Jampel syndrome.
The del(4) (q31) syndrome‐A recognizable disorder with atypical Robin malformation Sequence
Authors: Davis Jeffrey M. , Clarren Sterling K. , Salk Darrell J. , Opitz John M. 
Published: June 2005

AbstractDeletions of the terminal region of the long arm of chromosome 4 have been reported previously in 6 patients. With the addition of our patient with 46,XX,del(4) (pter→q31:), it becomes clearer that this is a recognizable syndrome. None of the 7 patients has had prenatal growth deficiency, while postnatal growth deficiency has been variable. The syndrome is typified by a Robin malformation sequence without apparent catch‐up growth of the mandible, anomalous auricles, a short nasal septum with a depressed nasal bridge, absent 5th finger creases, clinodactyly, and displacement of the toes. Mental retardation has been found consistently.
Meiotic consequences of pericentric inversions of chromosome 13
Authors: Wenger S. L. , Steele M. W. , Opitz John M. 
Published: June 2005

AbstractA case is presented demonstrating meiotic consequences of inheritance of a pericentric inversion, inv(13)(p13q21), and suggesting, together with other similar reports reviewed, that certain manifestations (highly arched palate, long philtrum, polydactyly, microphthalmia, and capillary hemangiomata) result from duplication of the distal 13q while others (cleft lip/palate, scalp defects, congenital heart disease) result from duplication of the proximal 13q.
Ring 14 chromosome: Association with seizures
Authors: Lippe Barbara M. , Sparkes Robert S. , Opitz John M. 
Published: June 2005

AbstractA one‐year‐old male with seizures and developmental delay was found to have a ring 14 chromosome without a major band deletion. This brings the number of documented r(14) cases to seven. These patients have focal cerebral atrophy with seizures as their dominant manifestation, together with few minor facial anomalies. This combination suggests that abnormalities in the 14 chromosome may result in rather nonspecific central nervous system maldevelopment and dysfunction and raises the possibility that unexplained seizures with minor anomalies and mental retardation may warrant chromosome investigation.
Dermo‐distortive urticaria: An autosomal dominant dermatologic disorder
Authors: Epstein Paul A. , Kidd Kenneth K. , Opitz John M. 
Published: June 2005

AbstractA new hereditary physical urticaria, dermo‐distortive urticaria (DDU), is described in a Christian Lebanese family. DDU is characterized by the appearance of pruritic, erythematous, edematous, cutaneous swelling confined to the stimulated area in response to stimuli that vibrate or stretch the skin in a repetitive manner. The lesions appear within several minutes after stimulation and disappear within an hour. Extensive stimulation causes not only local urticaria but also a systemic response of faintness, headache, and facial erythema. Other than these annoying reactions, no other morbidity is associated with this disorder. While this disorder is certainly uncommon and its manifestations are more annoying than life threatening, it may be an important example of a heritable defect of inflammation control mechanisms. Although the mediator for the urticaria and systemic response was not isolated, a likely candidate is histamine. Computer analysis of the phenotype of 219 relatives in 6 generations shows that DDU is transmitted as an autosomal dominant trait with high penetrance. DDU is clinically distinct from hereditary angioneurotic edema, pressure urticaria, and dermographia. It is similar to vibratory angioedema (VA), but sufficient evidence to prove that DDU and VA are identical is not available.
Dysgerminoma in a patient with the syndrome of gonadal dysgenesis with a 45,X karyotype
Authors: Lindsay Alan N. , Sills Irene N. , MacGillivray Margaret H. , Fisher John E. , Voorhess Mary L. , Opitz John M. 
Published: June 2005

AbstractA 19‐year‐old woman with the Ullrich‐Turner syndrome presented with a mass filling her entire pelvis. The tumor was a dysgerminoma. Only one other patient with a 45,X chromosome constitution has been reported with this form of malignancy.
Cytogenetic studies of familial and sporadic Alzheimer disease
Authors: White Beverly J. , Crandall Clare , Goudsmit Jaap , Morrow Chuck H. , Alling David W. , Gajdusek D. Carleton , Tijio J ‐H. , Opitz John M. 
Published: June 2005

AbstractWe present cytogenetic findings in 7 familial and 5 sporadic Alzheimer disease (AD) patients and 34 unaffected relatives, spouses, and normal controls. Our study was prompted by reports of increased chromosome abnormalities in patients and family members at risk for AD. Coded peripheral blood chromosome preparations were evaluated for aneuploidy, aberration rates, and banding patterns. Statistical analyses of our results showed no increase in aneuploidy or aberrations in AD patients, their relatives, or normals. Chromosome loss or gain in aneuploid cells was not specific except in two individuals. These two older persons studied, one with AD and one unaffected, were observed to have increased sex chromosome aneuploidy. This finding was attributed to aging and was not considered to be an effect of AD.
Congenital androgen insensitivity due to a qualitatively abnormal androgen receptor
Authors: Pinsky Leonard , Kaufman Morris , Summitt Robert L. , Opitz John M. 
Published: June 2005

AbstractComplete or incomplete androgen insensitivity (AI) not associated with deficient specific 5α‐dihydrotestosterone (DHT)‐receptor activity in cultured genital skin fibroblasts may result from a qualitative receptor abnormality or a postreceptor defect in target cell sensitivity to DHT. We have studied a sporadic patient with complete AI whose mean receptor capacity (Bmax) is 34 fmol/mg protein and a second with incomplete AI, multiple affected maternal relatives, and a mean Bmax of 40 (normal: 15 – 50). Each has normal 5α‐reductase activity. The following qualities of the receptor activity are normal in each: Equilibrium dissociation constant (Kd), elution profile on gel chromatography, nuclear translocation of the DHT‐receptor complex, and 0.4 M KCl extractability of the nuclear complex. When preincubated at 37°C and assayed at 42°C (compared with the usual 37°C) the receptor activity in cells of the “complete AI” patient decreased much more (60%) than that of any of 7 control cell lines (± 20%); the activity in cells of the “incomplete AI” patient, in contrast, decreased to a variable, questionably abnormal extent. When preincubated, assayed, and chased at 37°C with excess radioinert DHT, the androgen‐receptor complexes in both patients dissociated with a rate constant (k−1) about 18 × 10−3 min−1 compared with a normal of 5.9 ± 0.32 × 10−3 min−1 (± SEM; n = 15). We have thus defined novel qualitative defects of the androgen receptor activity in two patients who have different clinical degrees of congenital AI despite normal levels of androgen binding. These defects will be useful as markers for genetic studies and as molecular models for steroid‐resistant cancer in man.
Prometaphase chromosomes in five patients with the Brachmann‐de Lange syndrome
Authors: Breslau Elizabeth J. , Disteche Christine , Hall Judith G. , Thuline Horace , Cooper Pat , Opitz John M. 
Published: June 2005

AbstractWe analyzed the prometaphase chromosomes of 5 patients (including one pair of sibs) with the Brachmann‐de Lange syndrome (BDLS), and did not find a significant chromosome abnormality in any of them. It appears that two distinct entities can be distinguished on clinical and chromosomal bases: the BDLS and the dup(3q) syndrome. We still recommend chromosome studies in any patients with BDLS and BDLS‐like manifestations.
An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, cataract, and other manifestations
Authors: Alves A. F. P. , dos Santos P. A. B. , Castelo‐Branco‐neto E. , Freire‐Maia N. , Opitz John M. 
Published: June 2005

AbstractWe describe a 20‐year‐old woman with generalized trichodysplasia, dry skin with scaling, hyperchromic spots on limbs, hyperkeratosis (particularly intense on soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc. The condition is probably due to an autosomal recessive gene. The patient is the only affected member in a sibship of four whose parents are second cousins.
Some epidemiological aspects of pyloric stenosis in British Columbia
Authors: Walpole Ian R. , Opitz John M. 
Published: June 2005

AbstractThe records of an ongoing Health Surveillance Registry that utilizes multiple sources of ascertainment were used to study the incidence rate of infantile hypertrophic pyloric stenosis (IHPS) in liveborn children in British Columbia during the period 1966–1977 inclusive. The incidence was 4.6 males/1,000 livebirths and 1.2 females/1,000 livebirths, giving a male to female ratio of 3.1 to 1. No significant overall incidence variations with time could be shown during the study period. There was suggestive evidence of independent sex‐incidence variation in different geographical regions, which clearly warrants further investigation.
Symphalangism with multiple anomalies of the hands and feet: A new genetic trait
Authors: Learman Yaffa , Katznelson Mariassa Bat‐Miriam , Bonné‐Tamir BatSheva , Engel Joel , Hertz Marjorie , Goodman Richard M. , Opitz John M. 
Published: June 2005

AbstractWe report a new autosomal dominant condition involving hands and feet of an Arabic father and 5 of his 11 children. This trait is characterized by symphalangism, syndactyly, brachydactyly type D, clinodactyly, and hypoplasia of the thenar and hypothenar eminences. Affected persons had symphalangism and syndactyly plus some or all or part of the other anomalies. Symphalangism, the main defect in this syndrome, showed variable expressivity. A distinct dermatoglyphic pattern was observed in all affected relatives. Linkage studies were done; however, no linkage was demonstrated.
The bingo model of survivorship: 1. Probabilistic aspects
Authors: Murphy Edmond A. , Trojak Joseph E. , Hou William , Rohde C. A. , Opitz John M. 
Published: June 2005

AbstractA “bingo” model is one in which the pattern of survival of a system is determined by whichever of several components, each with its own particular distribution for survival, fails first. The model is motivated by the study of lifespan in animals. A number of properties of such systems are discussed in general. They include the use of a special criterion of skewness that probably corresponds more closely than traditional measures to what the eye observes in casually inspecting data. This criterion is the ratio, r(h), of the probability density at a point an arbitrary distance, h, above the mode to that an equal distance below the mode. If this ratio is positive for all positive arguments, the distribution is considered positively asymmetrical and conversely.Details of the bingo model are worked out for several types of base distributions: the rectangular, the triangular, the logistic, and by numerical methods, the normal, lognormal, and gamma.
Analysis of banding patterns in a case of ring chromosome 21
Authors: Richer Claude‐Lise , Fitch Naomi , Sitahal Sharon , Murer‐Orlando Manuela , Jean Pierre , Opitz John M. 
Published: June 2005

AbstractAn infant with psychomotor retardation, hypertonia, microphthalmia, buphthalmos, cleft palate, nail dysplasia, and hypospadias had the karyotype 46,XY, r(21)/45,XY,‐21. Cytogenetic analysis of prophase and prometaphase chromosomes showed the breakpoints of chromosome 21 were at p12 and q22.2.
Malformation syndrome of duplication 12q24.1→qter
Authors: Melnyk Andrew R. , Weiss Lester , Van Dyke Daniel L. , Jarvi Paul , Opitz John M. 
Published: June 2005

AbstractWhile duplication and deletion of the short arm of chromosome 12 cause well‐recognized syndromes, duplication of the long arm of chromosome 12 is rarely observed. We are reporting a duplication of chromosome 12 distal to band q24.1 in a five‐month‐old child. His chromosome constitution is 46,XY,‐4, + der(4),t(4:12)(p16;q24.1)mat. The balanced translocation is also carried by his maternal grandmother and two of the mother's brothers.The malformation syndrome consisted of unusual facial appearance and anomalies of the musculoskeletal, cardiovascular, genitourinary, and central nervous systems.Four previously reported patients had similar break points on chromosome 12 with similar malformations; therefore, phenotype‐karyotype correlation suggests a definitive malformation syndrome associated with duplication of chromosome region 12q24.1→qter.
A cost‐benefit analysis of prenatal detection of down syndrome and neural tube defects in older mothers
Authors: Sadovnick A. D. , Baird P. A. , Opitz John M. 
Published: June 2005

AbstractInfants of older mothers have an increased risk of Down syndrome. As public awareness of this disorder increases, so does the number of women requesting prenatal diagnosis for advanced maternal age. A cost‐benefit analysis was done to determine the maternal age for which screening for Down syndrome is costbeneficial. The analysis took into account the cases of neural tube defects which would be detected “incidentally” on amniocentesis, as all amniotic fluid samples have alpha fetoprotein levels measured. British Columbia (B.C.) provides a unique opportunity for such a study: single‐year maternal age risk figures for Down syndrome based on virtually complete ascertainment are available; the Department of Medical Genetics Prenatal Diagnosis Clinic is the main referral centre for the province; B.C. has a universal medicare system which facilitates the calculation of medical costs and gives all women financially equal access to prenatal diagnosis. The study concludes that prenatal screening for Down syndrome is cost beneficial for women 34 years old or older at conception. A discount rate of 14% was chosen for this analysis and the effect of such a rate on the results is discussed.
Pseudomosaicism in prenatal diagnosis: Two simultaneous, independent reciprocal translocations
Authors: Cohen Maimon M. , Balkin Nancy E. 
Published: June 2005

AbstractCytogenetic evaluation of cultured amniotic fluid cells showed mosaicism of three karyotypes: 46, XY; 46, XY [t(13;17)(q13;q25)]; and 46, XY [t(11;12)(p11;q13)]. Reanalysis of cells from the four original culture flasks harvested individually revealed that both translocations derived from the same flask. Repeat amniocentesis, as well as peripheral blood obtained postnatally from a phenotypically normal male infant, demonstrated only normal chromosomes (46,XY). This observation represents a case of pseudomosaicism containing two different reciprocal translocations.
GENTIC: A computerized medical genetic case record system
Authors: Aymé Ségolène , Aurran Yvette , Gouvernet J. , Mattei J.‐F. , Giraud F. , Opitz John M. 
Published: June 2005

AbstractGENTIC is a computerized system for the storage, recall, and analysis of data collected by the Medical Genetics Center in Marseille, France. It is based on a standard case report file that includes a full clinical description of all patients, results of cytogenetic investigations, and details of the genetic counseling provided. GENTIC has been used since 1975, and data on more than 5,000 families are accessible for study. This system has improved the quality of consultations, follow‐up, and research. It provides data for epidemiological studies and for syndrome identification. This system is maintained at an annual cost of $3,000, salary costs not included, after an initial investment of $40,000.
Autosomal mosaicism in amniotic fluid cells from a twin pregnancy
Authors: Greenberg Frank , Elsas Nancy T. , Reidy John A. , Chen Andrew T. L. , Stone Lawrence B. , Opitz John M. , Daniel Art , Hecht Frederick 
Published: June 2005

AbstractAmniocentesis was performed on a 39‐year‐old gravida 4 woman because of maternal age. Ultrasonography demonstrated a twin pregnancy, and two amniotic fluid specimens were obtained under direct ultrasound guidance. All cells analyzed from the first specimen were 46,XX. In the second specimen, one colony in each of two flasks had trisomy 9; the remaining 3 colonies analyzed were 46, XX. The total cell count in the second specimen was 14 (24%) of 58 cells which were trisomic for chromosome 9. The parents elected to continue the pregnancy, which resulted in two live‐born infants, a male and a female, both chromosomally normal. The most likely explanation for the amniotic fluid finding is that fluid from one sac was sampled twice and that trisomic cells from the amnion were obtained during the second tap.
Monozygotic twins discordant for trisomy 21
Authors: Rogers John G. , Voullaire Lucille , Gold Hugo , Opitz John M. 
Published: June 2005

AbstractMonochorionic twins were phenotypically discordant for Down syndrome. Chromosome analysis of lymphocytes showed both to be mosaics. Fibroblast chromosome analysis showed that one twin was 46,XY and the other 47,XY, +21. Blood mosaicism appears to have resulted from placental anastomoses. The twins are presumed to be monozygotic on the basis of placentation, identical blood groups, HLA haplotypes, and serum proteins. We offer some speculation on the manner of occurrence of this rare event.
Aplasia cutis congenita in two sibs discordant for pylori atresia
Authors: Carmi R. , Sofer S. , Karplus M. , Ben‐Yakar Y. , Mahler D. , Zirkin H. , Bar‐Ziv J. , Opitz John M. 
Published: June 2005

AbstractWe report two sibs who were the products of a consanguineous mating, and who had an extensive form of aplasia cutis congenita (ACC). In one of them the generalized skin disorder was manifested by slipping off of the epidermis and mucous membranes with the slightest trauma. This sib also had pyloric atresia and other congenital malformations. Two hypotheses are presented to explain the discordance between the siblings for the abnormalities other than the ACC. One hypothesis assumes varying degrees of severity of the same autosomal recessive disease. The second suggests linkage between the gene for ACC and the gene for an epidermolysis bullosa (EB)‐like disorder and pyloric atresia. A recombination event involving the EB‐pyloric atresia gene in one carrier parent would then lead to an offspring with only ACC. Prenatal diagnosis is suggested by monitoring α‐fetoprotein levels in amniotic fluid.