bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic aspects of immotile cilia syndrome
Authors: Sturgess J. M. , Thompson M. W. , Czegledy‐Nagy E. , Turner J. A. P. , Opitz John M. 
Published: June 2005

AbstractThe genetics of the immotile cilia syndrome has been analyzed in a series of 46 affected individuals from 38 families. Both sexes were equally affected: there were 20 males and 26 females in this series. All patients had upper and lower respiratory disease with chronic sinusitis, otitis, and chronic cough from early childhood. Bronchiectasis was common in older children and adults. Situs inversus occurred randomly, affecting 11 males and 15 females. Biopsies of nasal and bronchial mucosa from these subjects have been investigated by electron microscopy and identified as having specific ultrastructural defects of respiratory tract cilia including deficiencies in outer dynein arms (19), inner dynein arms (3), both inner and outer dynein arms (15), radial spoke defect (5); and microtubular transposition anomaly (4). Segregation analysis of proband sibships was consistent with autosomal recessive inheritance. However, the different ultrastructural defects that underly the immotile cilia syndrome involve presumably different genetic determinants, and the different types have not been analyzed separately. Examination of paternal age and birth order gave no evidence of new autosomal dominant mutation in the series.
Chromosomal mosaicism of trisomy 7 restricted to chorionic villi
Authors: Bartels Iris , Rauskolb Rüdiger , Hansmann Ingo , Neri Giovanni 
Published: June 2005

AbstractChromosomal mosaicism confined to the placenta is a serious problem in first‐trimester fetal diagnosis. We report a case of mosaicism of trisomy 7. The aneuploid cell line could not be confirmed in fetal tissue.
Duchenne muscular dystrophy in a girl with an (X;15) translocation
Authors: Ribeiro Maria cecília Menks , Melaragno Maria Isabel , Schmidt Beny , Brunoni Decio , Gabbai Alberto Alain , Hackel Christine , Reynolds James F. 
Published: June 2005

AbstractThis is a report of a girl with Duchenne muscular dystrophy (DMD) associated with an 46,X,t (X;15) (p2l; q 26) chromosome constitution. Although in the eight published cases of girls with DMD and a t(X;aut) different autosomes were involved in the translocation, the breakpoint was always at Xp2l.The present case supports the hypothesis that the DMD gene must be located at Xp21. In this study, involvement of the father's chromosomes in the translocation was detected.
Duchenne muscular dystrophy in a girl with a 45, X/46, XX/47, XXX chromosome constitution
Authors: Bortolini Eliete Rabbi , da Silva Déa Martins , Chequer Rosemary Santos , Vianna‐Morgante Angela M. , Zatz Mayana , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 4‐year‐old girl with Duchenne muscular dystrophy (DMD). One of her sisters had grossly elevated serum creatine‐kinase and pyruvate‐kinase levels, and one of her maternal great uncles was presumptively affected by DMD. Cytogenetic analysis showed a 45,X/46,XX/47,XXX chromosome constitution. The maternally inherited DMD gene is presumed to be present on the single X of the 45,X cell line.
Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6
Authors: Levin Henry , Ritch Robert , Barathur Raj , Dunn Michael W. , Teekhasaenee Chaiwat , Margolis Sheila , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA premature infant with unilateral aniridia and congenital ectropion uveae, contralateral Rieger anomaly, bilateral congenital glaucoma, and hydrocephalus was found to have ring chromosome 6. The findings are consistent with multiple manifestations of a neural crest–derived maldevelopment of the anterior segment and central nervous system. Comparison with the 14 previously reported cases of ring chromosome 6 illustrates the phenotypic variability of this syndrome.
Trisomy 21: Rate in second‐degree relatives
Authors: Eunpu Deborah L. , McDonald Donna M. , Zackal Elaine H. , Reynolds James F. 
Published: June 2005

AbstractThe risk of recurrence for trisomy 21 offspring in couples with one affected child is accepted to be 1%. The rate of trisomy 21 in second‐ and third‐degree relatives is not established. Tamaren et al [Am J Med Genet 15:393–403, 1983] reported a Down syndrome rate of 0.67% among aunts and uncles (second‐degree relatives) of a Down syndrome proband. This eightfold rate increase over that for a control group can also be applied to nieces and nephews who are also second‐degree relatives. One routinely discusses amniocentesis for lower risk levels; thus, should one offer amniocentesis to every sib of a trisomy 21 proband?We obtained extensive family histories on 141 trisomy 21 kinships to ascertain the rate of trisomy 21 in second‐degree relatives. The rate for sibs agreed with the accepted 1% rate. Among aunts and uncles we found no trisomy 21 individuals. We conclude that the rate of trisomy 21 in second‐degree relatives does not appear to be sufficiently increased to warrant routine discussion of amniocentesis with sibs of trisomy 21 individuals.
Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46, XX, del(2) (q31q33)
Authors: Benson Kaaron , Gordon Margaret , Wassman E. Robert , Tsi Chung , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a malformed newborn girl with an interstitial deletion of the long arm of chromosome 2 (karyotype: 46, XX, del (2) (q31q33)). This is the first report of this particular chromosome abnormality that includes autopsy findings. Comparison with previous cases in the literature suggests that this particular deletion uniformly results in developmental delays, craniofacial changes, and occasionally results in microcephaly, low‐set ears, and hand and foot abnormalities.
Animal Model: Causes of windowing‐induced dysmorphogenesis (neural tube defects and early amnion deficit spectrum) in chicken embryos
Authors: Fineman Robert M. , Schoenwolf Gary C. , Huff Monte , Davis Peter L. , Prieur David J. 
Published: June 2005

AbstractPrevious reports suggest that windowing the shells of chicken eggs during the first day of incubation frequently results in dysmorphogenesis of the central nervous system. We report here data that further delineate the neural tube defects associated with this animal model. In addition, we describe another birth defect syndrome associated with windowing: the early amnion deficit spectrum (EADS). Several components of the egg are altered structurally by windowing: the shell, outer and inner shell membranes, yolk, and air space at the blunt end of the egg. A new air space is formed over the embryo as the original one at the blunt end is obliterated. A series of studies (pH, oxygen and carbon dioxide tensions, relative humidity, temperature, and deformation of the yolk documented with magnetic resonance imaging) examining individual steps of the windowing procedure and additional techniques that simulate windowing suggest that mechanical stress causes isolated neural tube defects and dehydration causes amnion defects. These amnion defects are associated with other embryonic abnormalities suggestive of deformations consistent with EADS.
Risks to sibs of probands with neural tube defects: Data for clinic populations in British Columbia
Authors: Keena B. , Sadovnick A. D. , Baird P. A. , Hall J. G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe purpose of this study is to determine whether couples receiving genetic counselling because of a child with a neural tube defect (NTD) are a selected group and therefore not representative of the general population with respect to sib risks for NTDs.British Columbia (B.C.) provides an excellent opportunity to look at this for several reasons. Firstly, genetic counselling services are centralized. Secondly, there is virtually complete ascertainment of all infants with NTDs in the province. Thirdly, sib risks for NTDs in the general population have been derived previously [McBride, 1979] and, therefore, are available for comparison with the risks for sibships in the clinic populations.In the present study, data were available on 398 sibships in which the index case had anencephaly and/or spina bifida. In all instances, sib risks for the clinic populations did not differ significantly from those for the general population. In addition, congenital malformations other than NTDs did not occur among sibs of index cases more often than expected, based on provincial incidence data.
The statistics of quantifiable homeostasis I. Simple linear homeostasis
Authors: Murphy Edmond A. , Opitz John M. 
Published: June 2005

AbstractThe statistical properties are explored of the least‐squares estimators of the parameters of a deterministic linear model for homeostasis with random, normally distributed technical errors. The parameters are: the amplitude of perturbation (A), the homing value (H), the restoration constant (B), and the lag time (L). The former two, although important in their own right, tell us nothing about the processes of biologic restitution and are thus considered “nuisance” parameters; the latter two are the “business” parameters, which tell us about the processes of biologic adjustment. The properties studied include bias and precision and their relationships to the number of data points and to the size of the technical error. Efforts have been concentrated on data points equally spaced over six lag times (which corresponds roughly to the period of observation used in loading studies, such as glucose tolerance tests). The distributions of these four estimators are studied in sets of 100 Monte Carlo simulations, each with 15, 30, and 100 data points, respectively. The estimators are virtually unbiased and all statisfactorily close to Gaussian. The residual mean‐square errors (the divisor being four less than the number of data points, since four parameters are estimated) seem to be unbiased estimators of the variances of the errors. Moreover, when suitably scaled, the residual sums of squares have distributions close to the chi‐square distribution for the appropriate degrees of freedom and with the corresponding means and variances. The correlations among the estimators are modest and, except where A is involved, small.
Metabolic myopathies
Authors: DiMauro Salvatore , Miranda Armand F. , Sakoda Saburo , Schon Eric A. , Servidei Serenella , Shanske Sara , Zeviani Massimo , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSix glycogen storage diseases (resulting from deficiencies of acid maltase, phosphorylase, phosphofructokinase, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase) and one mitochondrial myopathy (cytochrome c oxidase deficiency) are reviewed to illustrate: 1) clinical heterogeneity, 2) biochemical heterogeneity, 3) evidence for tissue‐specific and developmentally controlled isozymes, and 4) molecular genetic studies.
Small‐caliber skeletal muscle fibers do not suffer deleterious consequences of dystrophic gene expression
Authors: Karpati George , Carpenter Stirling , Opitz John M. 
Published: June 2005

AbstractIn Duchenne dystrophy and in the genetic dystrophies of CHF‐147 hamsters and MDX mice, the fundamental deleterious consequence of dystrophic gene expression is segmental necrosis of skeletal muscle fibers. The nature of the gene defects and the pathogenesis of muscle fiber damage are not known. However, clinical and experimental evidence indicates that muscle fibers whose girth is below a certain level (estimated at approximately 20–25 μm in diameter in dystrophic hamsters and MDX mice) are not susceptible to necrosis. This apparent “immunity” has been observed in muscle fibers that are naturally of small girth (such as those in extraocular muscles), and in fibers that were prevented from growing normally by experimental procedures (hamsters and mice) or by pathological processes (Duchenne patients). The cellular or molecular basis by which small‐caliber muscle fibers are resistant to the necrotizing effect of the dystrophic gene expression remains unknown. In small‐caliber muscle fibers, the normal contraction‐related mechanical strains per unit surface area are relatively less than in larger fibers; this could explain their relative resistance to necrosis in some dystrophies.
A severe form of congenital contractural arachnodactyly in two newborn infants
Authors: Currarino Guido , Friedman J. M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractCongenital contractural arachnodactyly (CCA) is an uncommon condition characterized by arachnodactyly, dolichostenomelia, kyphoscoliosis, “crumpled” auricles, and flexion contractures at knees, elbows, fingers, and sometimes other joints. The long‐term prognosis for affected individuals is usually relatively good. We report on two newborn infants with severe CCA, both of whom died in the first year of life. One child also had other anomalies not generally associated with this disorder. These observations are consistent with the possibility that CCA is an etiologically and clinically heterogeneous disorder.
Campomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia
Authors: Cumming William A. , Ohlsson Arne , Ali Ashraf , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAn aborted fetus, the offspring of consanguineous parents, had the unusual combination of campomelia, cervical lymphocele, polycystic kidneys, pancreas, and liver, short gut, and polysplenia. Births of earlier similarly affected fetuses suggest an autosomal recessive inheritance. Skeletal, lymphatic, and renal lesions were seen at 26 weeks' gestation by ultrasonography, but not at 16 weeks.
X‐linked mental retardation with marfanoid habitus
Authors: Fryns Jean‐Pierre , Buttiens Marc , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractHere we report on two pairs of mildly to moderately mentally retarded brothers with marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high‐arched palate, and hypernasal voice, as previously reported by Lujan et al (Am J Med Genet 17:311–322, 1984) in four mentally retarded males of a large kindred. The present data suggest the existence of a specific type of X‐linked mental retardation with marfanoid habitus.
A girl with G syndrome and agenesis of the corpus callosum
Authors: Neri G. , Genuardi M. , Natoli G. , Costa P. , Maggioni G. , Reynolds James F. 
Published: June 2005

AbstractWe report on a female patient with G syndrome. The clinical expression is relatively severe and includes 2 manifestations not previously reported, ie, agenesis of the corpus callosum and umbilical hernia. These new findings support the notion that there is a developmental defect of the midline as the basis of the G syndrome.
Apparent G syndrome presenting as neck and upper limb dystonia and severe gastroesophageal reflux
Authors: Williams Charles A. , Frias Jaime L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have studied a 3‐month‐old boy with severe gastroesophageal reflux, feeding difficulties, neck and upper limb dystonia, abnormal ears, normal genitalia, and anatomically apparently normal larynx and trachea. Initially diagnosed as suffering from Sandifer “syndrome,” he was treated with a gastrostomy and Nissen fundoplication. However, his characteristic facial appearance subsequently led to the diagnosis of G syndrome.
Reproductive plans of genetic counseling clients not eligible for prenatal diagnosis
Authors: Sorenson James R. , Scotch Norman A. , Swazey Judith P. , Wertz Dorothy C. , Heeren Timothy C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA prospective study of the reproductive plans of 185 genetic counseling clients at risk for birth defects not diagnosable prenatally found, 6 months after counseling, 1) a small increase in the number of pregnancies initiated and planned, compared to pregnancies planned before counseling; 2) an increase in initiated and planned pregnancies among clients at both high as well as low risk; and 3) reproductive plans after counseling more closely correlated with clients' perceptions of the social, familial, and economic burdens of an affected child than with medically defined risk and specific clinical characteristics of the birth defects. In discussing the burden of a birth defect with clients, counselors are encouraged to discuss not only the medical burden, but the social, familial, and financial burdens as well.
Y‐specific DNA sequences in male patients with 46,XX and 47,XXX karyotypes
Authors: Müller Ulrich , Latt Samuel A. , Donlon Timothy , Opitz John M. 
Published: June 2005

AbstractY chromosomal DNA sequences were detected in three of four 46,XX males and in one 47.XXX male. One reiterated Y chromosomal sequence, Y‐190, was localized by in situ hybridization to the distal short arm of an X chromosome of the 47,XXX male. This result is compatible with the hypothesis that an aberrant X/Y interchange has occurred, most likely during paternal meiosis, and that this interchange accounts for Y chromosomal material and sex reversal in this 47,XXX individual.
Chorea‐acanthocytosis: A report of three new families and implications for genetic counselling
Authors: Vance Jeffery M. , Pericak‐Vance Margaret A. , Bowman Michael H. , Payne Cynthia S. , Fredane Louis , Siddique Teepu , Roses Allen D. , Massey E. Wayne , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractChorea‐acanthocytosis (CHA) is a rare inherited neurologic disorder with peripheral red cell acanthocytes and normal serum lipoprotein levels. To date, 8 families with the disorder have been reported outside of Japan. We describe 4 patients in 3 families with CHA and review the clinical presentations in previous reports. In addition, we report magnetic resonance imaging scans in these patients. The pattern of inheritance in these families is most likely autosomal recessive. Obligate heterozygotes do not have acanthocytes on wet preparation under phase microscope.Two of 3 propositi were initially diagnosed as having Huntington chorea. Chorea‐acanthocytosis is an important differential in the diagnosis of Huntington chorea and should be considered in families without a family history. The paucity of families with CHA reported to date may represent lack of recognition.
A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak‐Higashi syndrome
Authors: Penner Jocelyn D. , Prieur David J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe Chediak‐Higashi syndrome (CHS) is an autosomal recessive genetic disease of humans, and clinically similar diseases occur in cats, mink, cattle, mice, killer whales, blue foxes, and silver foxes. It is characterized by incomplete albinism, increased susceptibility to infection, and the most distinctive hallmark, the presence of enlarged cytoplasmic granules in many cell types. The acid phosphatase‐positive granules, lysosomes, of fibroblasts from control and CHS humans, cats, mink, cattle, and mice were examined, These studies represent the initial characterization of the lesions in fibroblasts of CHS cats, mink, and cattle. Fibroblasts from each species and genotype were stained histochemically for acid phosphatase, and morphometric analysis of the distribution of acid phosphatase‐positive granules was performed. The lysosomes in the CHS fibroblasts tended to be restricted to the perinuclear area of the cytoplasm, whereas the lysosomes in the normal fibroblasts were generally more widely distributed in the cytoplasm. The lysosomes in the CHS fibroblasts of all species examined were also more enlarged and heterogeneous than those in the control fibroblasts.
Further evidence for genetic heterogeneity of whistling face or Freeman‐Sheldon syndrome in a Chinese family
Authors: Wang Tso‐Ren , Lin Shio‐Jean , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on 2 brothers with severe manifestations of the whistling‐face/windmill‐vane‐hand syndrome (also called “craniocarpotarsal dystrophy”; Freeman‐Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrome and suggest existence of an autosomal or X‐linked recessive form of this syndrome.
Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency
Authors: Wenger David A. , DeGala Gregory , Williams Carolyn , Taylor Harold A. , Stevenson Roger E. , Pruitt James R. , Miller John , Garen Paul D. , Balentine J. Douglas 
Published: June 2005

AbstractA 28‐month‐old black male died with severe complications of mental and motor deterioration, seizures, and aspiration. Autopsy demonstrated moderate liver enlargement, normal spleen and kidneys, small testes, and a grossly normal brain. Further examination showed irregular macrogyrae with evidence of a storage or sclerotic process. Thin layer chromatography of the lipids in formalin‐fixed tissue demonstrated elevated levels of ceramide trihexoside and possibly sulfatides in liver and a decrease in the ratio of galactosylceramide to sulfatide in brain. Examination of the gangliosides in formalin‐fixed brain indicated a slight increase in the percentage of GM1 ganglioside and a clear elevation in GM2 and GM3 gangliosides. Cultured skin fibroblasts had a normal activity for a large number of lysosmal enzymes including arysulfatase A and galactocerebrosidase. When the cells were loaded with [14C]sulfatide only about 12% of sulfatide was metabolized after 3 days. Extracts of the cells were subjected to SDS‐PAGE and immunoblotting with antisphingolipid activator protein‐1 (SPA)rabbit antiserum, and no cross‐reacting material was detected confirming the diagnosis of metachromatic leukodystrophy caused by SAP‐1deficiency. This patient was clinically more severe than the other patuent described previsously with this deficiency. Further studies are underway to define the nature of the mutation in this patient.
Growth factors, their receptors and development
Authors: Hollenberg M. D. 
Published: June 2005

AbstractThe hypothesis is put forward that the localized production of growth factors and the regulation both of their receptors and their receptor‐triggered transmembrane signaling reactions played an important role in organ development. The developing palate is used as an example to support this hypothesis. Data are summarized to demonstrate that during palatogenesis, there are variations in the amount of fetal epidermal growth factor‐urogastrone (EGF‐URO), in the amount of EGFURO receptor, and that there is a developmentally regulated variation in cellular responsiveness to EGF‐URO. Further, it is demonstrated that the growth factor EGF‐URO itself can regulate the production by palate tissue of a second growth factor, insulin‐like growth factor (IGF). The multiple actions of the many so‐called growth factors, quite apart from their ability to regulate cell growth are pointed out; and the implications of the many distinct actions of a single growth factor on a single cell type are discussed in the context of a developmental process like palate formation. A model is developed to illustrate the kinds of interactive processes that may occur in a tissue microenvironment during a developmental process, involving cell‐cell communication and an influence of the extracellular matrix.