bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neural tube defects in the Sikhs
Authors: Baird P. A. 
Published: June 2005

AbstractBackground information on the incidence of neural tube defects (NTD) in Sikhs in India and elsewhere is given. The incidence of NTD in the Sikh population of British Columbia is estimated for 4 years and found to be 2.86 per 1,000 births. The overall rate for NTD in all B.C. births for these same years is 1.26 per 1,000 births. This difference is statistically significant. Analysis of cases showed that a greater proportion of Sikh cases are stillborn, and these account for much of the excess over expected. It appears that the incidence of NTD in Sikhs is increased compared to the general population incidence of these birth defects in B.C.
Familial supernumerary microchromosome mosaicism: Phenotypic effects and an attempt at characterization
Authors: Chudley Albert E. , Zheng Huui‐Zu , Pabello Paulino D. , Shia George , Wang Hsi‐Chang , Opitz John M. 
Published: June 2005

AbstractA healthy normally intelligent man and his two daughters who had mild developmental delay and different malformations were determined to have an acrocentric supernumerary microchromosome (MC). The father and both daughters were noted to be mosaic for the MC, perhaps suggesting mitotic instability of the MC cell line with loss over time. The MC was negative staining on G‐banding and showed absence of centromeric heterochromatin on C‐banding. A centromere was identified with silver staining; no NORs were identified. The MC approximated the size of the short arm of the Y chromosome and showed cytologic behavior similar to that of a Y chromosome. H‐Y antigen and Y‐DNA gene probe studies failed to confirm a Yp origin.
Conductive deafness, symphalangism, and facial abnormalities: The WL syndrome in a Japanese family
Authors: Higashi Koichiro , Inoue Shuichi 
Published: June 2005

AbstractWe report on a family in which four relatives were affected with an autosomal dominant syndrome of unusual facial appearance, nasal abnormality, conductive deafness, pectus carinatum, and symphalangism. This appears to be only the second report of the WL symphalangism syndrome of Herrmann and the first studied in a Japanese family.
Assessment of variance components models on pedigrees using cholesterol, low‐density, and high‐density lipoprotein measurements
Authors: Beaty T. H. , Self S. G. , Chase G. A. , Kwiterovich P. O. , Opitz John M. 
Published: June 2005

AbstractPlasma total cholesterol, low‐density lipoprotein (LDL), and high‐density lipoprotein (HDL) measurements on 402 individuals in 62 randomly selected families from the Columbia Medical Plan population were used to select the “best” model among a series of multifactorial models using the maximum likelihood method described by Lange et al [1976]. These models included both genetic and non‐genetic components of variance. The most parsimonious model for each trait was selected and examined using a goodness‐of‐fit statistic designed by Hopper and Mathews [1982] to test the assumptions of this technique.A simple additive genetic model was the most plausible for all three measurements, suggesting a strong role for genetic factors in determining lipid and lipoprotein levels in these data. Goodness‐of‐fit statistics for these models were examined and showed little evidence of deviation from the assumption of multivariate normality within pedigrees. This approach of selecting the most parsimonious model among a series of competing models and then assesing its goodness‐of‐fit has many applications in studying familial aggregation of quantitative traits.
A large kindred with X‐linked mental retardation, marker X and macroorchidism
Authors: Lubs Herbert , Travers Helen , Lujan Enrique , Carroll Andrew , Opitz John M. 
Published: June 2005

AbstractThirty‐eight members of a black kindred with mental retardation and the Marker X were studied. Ten of 14 affected males, 6 of 6 affected females, 18 carriers or possible carriers, and 7 normal males were examined. Eight of 9 affected males who could be measured had macroorchidism, but their ears and mandibles were not prominent. No distinct facies were evident, although minor anomalies, such as a slight pectus, were present in some. Clinical diagnosis in the absence of a strongly positive family history may be even more difficult among prepubertal black children than in whites. The risk of retardation among children of carriers was estimated at 20–40%.
An anthropometric study of males with the Fragile‐X syndrome
Authors: Meryash David L. , Cronk Christine E. , Sachs Benjamin , Gerald Park S. , Opitz John M. 
Published: June 2005

AbstractAnthropometric methods were used to examine 18 males 18 to 69 years old with the Fragile‐X syndrome. Thirteen of 15 subjects had macroorchidism. The average height of the individuals with the Fragile‐X was less than that of published standards. Seventeen of the 18 subjects had absolute or relative macrocephaly, and two‐thirds of the subjects were dolichocephalic. For the group as a whole, facial and ear lengths were increased, and facial breadth, hand length, and foot length were decreased. It is suggested that relationships between various measurements of an individual may be more important than any single measurements for conveying the characteristic appearance of an individual with the Fragile‐X syndrome.
Fragile‐X syndrome III: Dermatoglyphic studies in males
Authors: Simpson Nancy E. , Newman B. J. , Partington M. W. , Opitz John M. 
Published: June 2005

AbstractDermatoglyphics of 39 males with the fragile‐X syndrome were compared with those of 3 groups of control subjects; 497 school boys, 15 males with non‐specific mental retardation, and 15 with Down syndrome. Compared with the control males, there was an increased frequency of radial loops, whorls, and arches on the fingers and of third interdigital patterns and abnormal creases on the hands, and a decreased frequency of ulnar loops and fourth interdigital patterns in the patients with the fragile‐X syndrome. The mean a‐b ridge count was lower than in controls and there were more patients than controls with an a‐b ridge count < 70. All of these differences were significant at p < 0.01. There was no difference between patients and controls with respect to total ridge count on the fingers and the dermatoglyphics in other areas of the hands or feet.From this small study a preliminary index was developed that attempts to distinguish male patients with the fragile‐X syndrome from normal male controls and males with nonfragile‐X forms of mental retardation. The patterns on the left and right third fingers, the a‐b ridge count, and the palmar creases were used in the index. Sixty‐four % of patients with the fragile‐X syndrome would be selected out if ≥ + 0.5 was used as the criterion and 90% of these males would be expected to have the fragile‐X chromosome.
Folate metabolism in cells from fragile X syndrome patients and carriers
Authors: Wang Jin‐Chen C. , Erbe Richard W. , Opitz John M. 
Published: June 2005

AbstractThe in vitro folate sensitivity of the fragile site at Xq27 and the claims of a beneficial response of patients given folic acid prompted us to examine the folate metabolism in cells cultured from fragile X syndrome patients and carriers. Using Epstein‐Barr virus we established permanent lymphoblastoid lines from 4 fragile X syndrome males and 3 carriers from 7 families. All these lines expressed the fragile site when 0.1 μ M 5‐fluorodeoxyuridine(FUdR) was added to the cultures 24 hr prior to harvest; thus, the lines seemed suitable for seeking an intrinsic defect. Fragile X syndrome patient and carrier lines and normal control cell lines did not differ in regard to folate requirement for growth, the ability to use homocysteine in place of methionine, the ability to utilize reduced folates as the sole folate source, or methotrexate sensitivity. These results suggest that no intrinsic defect in folate metabolism is present in fragile X syndrome cells.
Dominant inheritance of bifid nose
Authors: Anyane‐Yeboa K. , Raifman M. A. , Berant M. , Frogel M. P. , Travers H. , Opitz John M. 
Published: June 2005

AbstractTo our knowledge, median cleft of nose without apparent hypertelorism (bifid nose) has been reported only twice [Esser, 1939; Boo‐chai, 1965]. We report five individuals in 3 generations of a family who had a bifid nose without apparent hypertelorism or mental retardation. In this family bifid nose was most likely an autosomal dominant trait.
Genetic analysis of sodium‐lithium countertransport in 10 hypertension‐prone kindreds
Authors: Dadone Mary M. , Hasstedt Sandra J. , Hunt Steven C. , Smith Jean B. , Ash K. Owen , Williams Roger R. , Opitz John M. 
Published: June 2005

AbstractThe rate of sodium‐lithium countertransport (SLC flux) across red cell membranes has been reported to be elevated in hypertensive persons and their relatives as compared to normotensive individuals without family histories of hypertension. We have investigated the inheritance of this trait in 434 persons from 10 kindreds. Relatives show positive correlation of SLC flux values, but there is no spouse‐spouse correlation. Pedigree analysis favors a model of polygenic inheritance over models of major‐gene inheritance. Major‐gene index statistics and offspring‐between‐parent statistics provide similar results. The proportion of total pheno‐typic variance that is attributable to polygenic differences between persons is estimated at 71%. The SLC flux values of hypertensive persons in this study population are lower than those reported from Boston, but are similar to those reported from Europe. We found a broad overlap of SLC flux values for hypertensive and normotensive persons. We conclude that SLC flux probably is not useful as a preclinical marker for essential hypertension.
Curry‐Hall syndrome
Authors: Shapiro S. D. , Jorgenson R. J. , Salinas C. F. , Opitz John M. 
Published: June 2005

AbstractCurry and Hall [1979] described a large Spanish‐Mexican family with a pleiotropic autosomal dominant disorder of polydactyly, conical teeth, nail dysplasia, and short limbs. We describe a patient with similar manifestations, but from a different geographic and ethnic background. We propose that the disorder be called the Curry‐Hall syndrome.
Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome
Authors: Chen H. , Immken L. , Lachman R. , Yang S. , Rimoin D. L. , Rightmire D. , Eteson D. , Stewart F. , Beemer F. A. , Opitz J. M. , Gilbert E. F. , Langer L. O. , Shapiro L. R. , Duncan P. A. 
Published: June 2005

AbstractThree unrelated stillborn infants (cases 1–3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin‐to‐sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops, characteristic abnormal facial appearance with hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, apparently low‐set malformed ears, short neck with a cystic hygroma at the back of the neck and head, and pulmonary and cardiac hypoplasia.Radiographic studies, in addition, showed scalp edema, microbrachycephaly, flattened mandibular angle, lack of normal curvature at the cervico‐thoracic junction, marked bony fusion of posterior spinous processes of older fetuses (cases 1, 2), thin crowded ribs, markedly hypoplastic scapulae, hypoplastic iliac wings, ischia and pubic bones, undermodeling of tubular bones, and radio‐ulnar synostosis.Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining ofthe resting cartilages (cases 1, 2).To the best of our knowledge, this pattern of anomalies constitutes a previously undescribed syndrome. Prenatal diagnosis of this entity is possible by ultrasonographic studies on the basis of nonimmune fetal hydrops, a cystic hygroma at the back of the head and neck, diminished fetal activity, short and fixed limbs, and/or maternal hydramnios. Three additional cases (cases 4–6) are also presented to show a possible heterogeneity of this syndrome.
Lethal multiple pterygium syndrome
Authors: Van Regemorter N. , Wilkin P. , Englert Y. , El Khazen N. , Alexander S. , Rodesch F. , Milaire J. 
Published: June 2005

AbstractWe report on two fetuses with a lethal form of multiple‐pterygium syndrome born to first cousins. The two pregnancies aborted spontaneously in the 2nd trimester, the fetuses, 10–11 weeks of embryonic age, showing multiple pterygia and multiple cartilaginous fusions. One had cleft lip and palate. In both cases the microscopic anatomy of the placenta showed villi with scalloped border and intravillous trophoblastic invaginations.
Prenatal diagnosis of thanatophoric dysplasia at 24 weeks
Authors: Camera Gianni , Dodero Danilo , De Pascale Sergio 
Published: June 2005

AbstractWe report making the prenatal diagnosis of thanatophoric dysplasia at 24 weeks gestation. The ultrasound examination showed short limbs. By in utero radiological study, we could see the typical changes of this skeletal dysplasia. Radiological and histological studies confirmed the aborted fetus to be affected with thanatophoric dysplasia.
Duplication of part of chromosome 1q: Clinical report and review of literature
Authors: Michels Virginia V. , Berseth Carol Lynn , O'Brien John F. , Dewald Gordon , Opitz John M. 
Published: June 2005

AbstractWe report a male infant with a 47,XY,+der(22),t(1;22)(q32;q11)pat karyotype. Thus, he has duplication of chromosomes 1(q32→qter) and 22(pter→q11). Six patients with dup 1(q32→qter) and eight with dup 1(q42→qter) have been described. These two groups of patients share several manifestations, including postnatal growth retardation; relative macrocephaly with widely separated sutures or large fontanelles; prominent forehead; highly arched palate; micrognathia; downward slant of the palpebral fissures; broad, flat nasal bridge; and apparently low‐set, malformed ears. Although many of these abnormalities are nonspecific, partial duplication of 1q should be considered in infants with relative macrocephaly, large fontanelles, and downward slant of the palpebral fissures. Our patient had duplication of the part of chromosome 22 that may be associated with the clinically variable cat‐eye syndrome. Patients with dup 22(pter→q11) may also have downward slant of the palpebral fissures, micrognathia, and apparently low‐set, malformed ears. The structural gene locus for β‐glucosidase has been mapped to chromosome 1. β‐Glucosidase activity in fibroblasts from our patient was normal, and his parents' activities were not significantly different from those of control individuals. Therefore, either the locus for this enzyme is not present on 1(q32→qter) or the enzyme does not consistently show a substantial gene‐dose effect.
Multiple synostosis syndrome: Study of a large Brazilian kindred
Authors: da‐Silva Elias O. , Filho Sílvio M. , de Albuquerque Sílvio C. 
Published: June 2005

AbstractWe report a large Brazilian kindred with 28 cases of the autosomal dominant multiple synostosis syndrome. The main anomalies were symphalangism and carpal and tarsal synostoses. Other common findings included synostosis involving other bones, absence of phalanges and nails, short metacarpals, pes planovalgus with prominent lateral border, hypoplastic alae of nose, short upper lip, and dermatoglyphic abnormalities. This may be a variant of the WL syndrome.
Genetic heterogeneity in spondyloepiphyseal dysplasia congenita
Authors: Harrod Mary Jo E. , Friedman Jan M. , Currarino Guido , Pauli Richard M. , Langer Leonard O. , Opitz John M. 
Published: June 2005

AbstractTwo unrelated infants seen for evaluation of short stature at 14 and 27 months, respectively, had clinical and radiographic findings consistent with the diagnosis of spondyloepiphyseal dysplasia congenita (SED congenita). No other anomalies were noted. Both sets of parents were normal, both family histories were unremarkable, and neither couple was consanguineous. Both families were counseled that SED congenita is an autosomal dominant disorder and that sporadic cases proably result from new mutations; a low recurrence risk was given. Both families subsequently produced a second affected child. Our experiences suggest that genocopies of autosomal dominant SED congenita exist that are clinically and radiographically indistinguishable, at least within the first 3 years. Autosomal recessive inheritance seems most likely, although alternative explanations are possible. Genetic heterogeneity should be considered when providing genetic counseling for sporadic SED congenita in young children.
The Jansen type of metaphyseal chondrodysplasia: Confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult
Authors: Charrow Joel , Poznanski Andrew K. , Opitz John M. 
Published: June 2005

AbstractWe describe a mother and infant girl with the Jansen type of metaphyseal chondrodysplasia. The transmission of the syndrome from mother to daughter in this family establishes this as a dominant condition. Characteristic radiographic manifestations of the disorder were obvious at birth. The mother and infant illustrate the two extremes of age where the radiographic manifestations are less characteristic than in middle childhood, since the marked metaphyseal calcifications are absent.
A possible explanation for the low incidence of gonosomal aneuploidy among the offspring of triplo‐X individuals
Authors: Neri Giovanni , Opitz John M. 
Published: June 2005

AbstractA review of the reproductive performance of 47,XXX individuals showed that the incidence of gonosomal aneuploidy among the offspring is low. To explain this unexpected phenomenon it is hypothesized that fertile triplo‐X individuals have chromosomally normal oogonia due to mitotic nondisjunction in a cell from which the primordial germ line took origin. Mosaic 46,XX/47,XXX individuals have a somewhat higher risk of bearing aneuploid offspring, possibly due to a constitutional tendency toward gonosomal nondisjunction.
Inbreeding effect on morbidity: I. Three Analyses (one with cousin and sib controls) of two surveys among Brazilian whites and Negroes
Authors: Ruas P. M. , Freire‐Maia N. 
Published: June 2005

AbstractData from two surveys performed in Brazil and involving 5,719 persons have been subdivided into three subsamples (one with cousin and sib controls). The totals led to estimates of B (abnormal equivalents per gamete) around 0.5, of A (the damage in a noninbred population) around 0.01–0.02, and of B/A from 14 to 77. No statistically significant difference was found between whites and nonwhites (mulattoes and Negroes). Inbreeding seems to disclose a predominantly mutational load.
Stability over time of hematological variables in 197 children with sickle cell anemia
Authors: Odenheimer Daniel J. , Whitten Charles F. , Rucknagel Donald A. , Sarnaik Sharada A. , Sing Charles F. 
Published: June 2005

AbstractOne hundred ninety‐seven children with sickle cell anemia were followed for 4 years at the Wayne State Comprehensive Sickle Cell Center to evaluate the stability of the hematological variables (Hb, Hct, RBC count, MCV, %HbF and %HBA2) over time. The mean values of the hematological measurements taken during three separate 16‐month intervals were used to represent an individual's values. The correlations of the hematological variables between intervals ranged from a low of 0.46 for %HBA2 to a high of 0.91 for %HbF. Correlations that spanned two intervals (an average of 32 months) were of the same magnitude as those that spanned only one interval (an average of 16 months), suggesting that there was no decrease in the degree of stability of these variables as the time between measurements increased. The stability of the correlations between variables within intervals, and the stability of the coefficients of the first two principal components of the six hematological variables over time suggested that the relationships among variables were also stable.In a recent report [Odenheimer et al, 1983], we used the values of the six hematological variables collected at an individual's first visit to the sickle cell center to identify four hematologically distinct subgroups of children. In the current report, we found that as many as 83% of the individuals remained in the same subgroup in at least two of the three follow‐up intervals, suggesting that the factors that contributed to this classification were the result of stable, rather than transient phenomena.
The commemoration of the Meckel bicentennial: Bozeman 1982
Authors: Mullen Pierce C. 
Published: June 2005

AbstractUnder close scrutiny the perogative of self‐intelligibility thus attributed to present time is found to be based upon a set of strange postulates. In the first place, it supposes that, within a generation or two, human affairs have undergone a change which is not merely rapid, but total, so that no institution of long standing, no traditional form of conduct, could have escaped the revolutions of the laboratory and the factory. It overlooks the force of inertia peculiar to so many social creations.
Meckel syndrome in different populations
Authors: Lurie Iosif W. , Prytkov Alexander N. , Meldere Lyudmila V. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on 18 infants from 13 families where the infant was affected with the Meckel syndrome. The parents belong to various national groups—Russians, Byelorussians, Poles, Ukrainians, Letts, and Tatars. One child was from an incestuous union (half‐sister and half‐brother), in 4 families the parents were natives of the same or neighboring villages; other parents apparently were not related. Excluding 3 couples from Central Russia, the Ukraine, and Tatary, the other 10 families were the inhabitants of the Moscow region, Byelorussia, and Latvia. In 3 of these families at least one grandparent was of Tatar descent. At the same time the frequency of Tatars in these regions is less than 1%. Using the Newton binomial distribution it was shown that the hypothesis about equal frequency of the Meckel syndrome gene among Tatars and other national groups under study may be excluded completely, and therefore the alternative hypothesis about an unusually high frequency of this gene among Tatars must be accepted. Such analysis may be useful for comparative evaluation of gene frequencies in populations which cannot be studied directly.
Genetic counseling in Becker type X‐linked muscular dystrophy. I. Theoretical considerations
Authors: Grimm T. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe prior probability of any woman being a carrier for Becker muscular dystrophy (BMD) has been calculated. If μ is the mutation rate in female germ cells and n̈ the mutation rate in male germ cells, this probability is 34/3μ + 20/3v. For all X‐linked diseases with a fitness f the prior probability (H) is:
Familial t (4;21)(q2.4;q2.2) leading to unbalanced offspring with partial duplication of 4q and of 21q without manifestations of the down syndrome
Authors: Kitsiou‐Tzeli Sophia , Hallett Joseph J. , Atkins Leonard , Latt Samuel A. , Holmes Lewis B. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on an infant with a malformation syndrome who had a combination of partial duplication of 4q and 21q as the result of a maternal unbalanced translocation. She has duplication of the proximal portion of chromosome 21, without manifestation of the Down syndrome.