bluuebunny/crossref_metadata_2025_split huggingface dataset:
In vitro sulfate turnover in osteogenesis imperfecta congenita and tarda
Authors: Delvin Edgard E. , Glorieux Francis H. , Lopez Elida 
Published: June 2005

AbstractSulfate (35SO4−2) uptake was studied in confluent skin fibroblasts from three patients with osteogenesis imperfecta “congenita,” six patients with osteogenesis imperfecta “tarda,” three clinically unaffected relatives of an osteogenesis imperfecta tarda patient, and four controls. Only two of the osteogenesis imperfecta congenita cell strains showed an increased uptake of sulfate, all other cell strains being comparable to the control group. The degradation rate of glycosaminoglycans in mutants as seen by the chase experiments was comparable to that found in the normal control cell strains. Glucose oxidation was normal in the osteogenesis imperfecta cell strains having an abnormal sulfate uptake. This rules out the possibility of an hypermetabolic state of these cells. These findings do not warrant the use of 35SO4−2 incorporation in cultured cells as a tool for prenatal diagnosis of osteogenesis imperfecta.
Anatomical studies of a boy trisomic for the distal portion of 13q
Authors: Pettersen James C. 
Published: June 2005

AbstractA boy trisomic for the distal portion of 13q was dissected in detail and compared to 8 cases of complete trisomy 13 previously studied in our laboratory. The comparison shows that the partial trisomy 13q case did not correspond well to a muscle phenotype based on 6 variations common in trisomy 13, but rather to a larger muscle phenotype that included variations less frequently observed in complete trisomy 13. Additional cases of partial trisomy 13 must be studied before these findings can be related to specific portions of chromosome 13.
Complete androgen insensitivity with a normal amount of 5α‐dihydrotestosterone‐binding activity in labium majus skin fibroblasts
Authors: Kaufman Morris , Pinsky Leonard , Baird Patricia A. , McGillivray Barbara C. 
Published: June 2005

AbstractWe have studied labium majus skin fibroblast strains from six unrelated, previously unreported, patients with complete androgen insensitivity (CAI). Four have markedly reduced specific 5α‐dihydrotestosterone‐binding (DHT‐binding) activity (receptor‐negative). The other two (receptor‐positive) have normal activities in whole‐cell homogenates, the 100,000g supernatant of cell sonicates prepared in 0.4 M KCl, purified whole nuclei, and the nuclear fraction that resists extraction with 0.4 M KCl. In one of the two, the DHT‐binding macromolecules in the cytosol and 0.4 M KCl‐extractable nuclear fraction have normal molecular sieving profiles and binding activities. One of the receptor‐positive patients has maternally related affected relatives in three successive generations. Appreciable unexplained interexperimental variation of the DHT‐binding activities in genital skin fibroblast strains demands that multiple assays be performed on a strain before its receptor status is classified quantitatively. In our experience to date with genital skin fibroblasts, four of 13 propositi with CAI have been receptor‐positive.
Autosomal recessive craniometaphyseal dysplasia
Authors: Penchaszadeh Victor B. , Gutierrez Estatio R. , Figueroa P. Ernesto 
Published: June 2005

AbstractThe autosomal recessive form of craniometaphyseal dysplasia was ascertained in two sibships with two affected individuals each. All four parents were normal and in one case they were consanguineous; both families were living in Caracas but had their origins in Tenerife Island (Canary Islands), although no genealogic link between them could be established. The age of the patients ranged from 6 to 14 years and the main clinical alterations were a thick bony wedge over the bridge of the nose, dystopia canthorum, ocular hypertelorism, enlarged malar prominences and mandible, wide alveolar ridges, dental abnormalities, and genu valgum; narrowing of the nasal passages led to mouth breathing. A slight, mixed hypoacusia was present in two patients; no other signs of cranial nerve involvement were detected. The cardinal radiographic features were hyperostosis and sclerosis of the calvarium, the base of the skull, and the facial bones and mandible; increased bone deposition on the walls of the paranasal sinuses; under‐pneumatization of mastoid cells; cortical hyperostosis of the diaphyses of the short and long tubular bones, and gradual, club‐shaped widening of the metaphyses, which had thin cortex and undermineralized medullary bone. The clinical and radiologic alterations had an increasing gradient of severity with age. The phenotype of recessive craniometaphyseal dysplasia is not clearly differentiated from the dominant form but easily so from two other recessive conditions with which it was formerly confused: Pyle disease and craniodiaphyseal dysplasia.
Frontometaphyseal dysplasia—evidence for X‐linked inheritance
Authors: Gorlin Robert J. , Winter Robert B. 
Published: June 2005

AbstractFewer than two dozen cases of frontometaphyseal dysplasia have been reported, some doubly or erroneously. In most reports, no information is available on possible variable manifestations in female relatives. Statements that the disorder is inherited as a dominant trait, and as an X‐linked recessive have caused us to consider genetic heterogeneity. A recent large kindred prompted us to survey all published examples. We asked authors to reexamine the families they studied for any expression in relatives. In some cases, no further information could be elicited, but some additional information was gathered and pedigrees modified. This evidence was sufficient to indicate X‐linked inheritance, with severe manifestations in males and extremely variable manifestations in females.
Malformation syndrome associated with small extra chromosome
Authors: Carmi Rivka , Abeliovich Dvorah , Bar‐Ziv Jacob , Karplus Michael , Cohen Maimon M. , Opitz John M. 
Published: June 2005

AbstractWe report an infant with a previously apparently unreported lethal malformation syndrome concentrated primarily on the left half of the body, but including midline defects such as meningomyelocele, cleft lip and cleft palate, and imperforate anus. The infant also had a small extra metacentric chromosome in 60% of lymphocytes. It is postulated that the small extra chromosome (whose origin remains unknown) caused the infant's condition, and that its asymmetry is compatible with an uneven distribution of the normal and aneuploid cell lines in the two halves of the body during critical phases of prenatal development.
Genetic counseling for adoptees at risk for specific inherited disorders
Authors: Omenn Gilbert S. , Hall Judith G. , Hansen Kenneth D. 
Published: June 2005

AbstractWe present 5 cases in which family history showed that a child given up for adoption some years earlier was at 50% risk for inheritance of Huntington disease, myotonic dystrophy, Fabry disease, von Willebrand disease, and Waardenburg syndrome, respectively. In all cases, the biological mothers (the probands) requested that the genetic counseling provided for them and their children be shared with the adoptive family. The decision whether or not to seek out the adoptee was based upon explicit assessment of the potential benefits and potential difficulties involved in contacting the adoptive family and attempting to provide genetic counseling. We have formulated some recommendations for dealing with other families with similar separation of relatives by adoption on the basis of these experiences.
Beta‐galactosidase deficiency: Studies of two patients with prolonged survival
Authors: Taylor Harold A. , Stevenson Roger E. , Parks Stephen E. , Kelly T. E. 
Published: June 2005

AbstractTwo adults with β‐galactosidase deficiency were studied. Differences in a number of β‐galactosidase parameters (pH optima, heat denaturation, NaCl kinetics) were noted between the patients. Differences were also noted in β‐galactosidase electrophoretic mobilities and urinary oligosaccharides; however, there was no complementation in cell fusion studies. It is suggested that these two patients have different primary mutations at the β‐galactosidase locus which are probably structural in nature.
Congenital macular colobomas and short‐limb skeletal dysplasia
Authors: Smith Richard D. , Fineman Robert M. , Sillence David O. , Lester Patric D. , Nixon G. William , Rimoin David L. , Lachman Ralph S. , Opitz John M. 
Published: June 2005

AbstractWe report a previously undescribed association of severe short‐limbed dwarfism and macular colobomas with histological changes of cartilage resembling to some extent those of diastrophic dysplasia.Chance occurrence of two rare disorders due to different causes is considered unlikely and the patient is presumed to have a syndrome of, as yet, unknown cause.
Possible X‐linked anencephaly and spina bifida—report of a kindred
Authors: Toriello Helga V. , Warren Stephen T. , Lindstrom Janice A. , Opitz John M. 
Published: June 2005

AbstractCausal heterogeneity of anencephaly and spina bifida has been demonstrated; in rare families the neural tube defect may be caused by a single gene. We report a family in which four cases of anencephaly or spina bifida may represent X‐linked inheritance.
A new genetic concept: Uniparental disomy and its potential effect, isodisomy
Authors: Engel Eric 
Published: June 2005

AbstractIn recent years, cytogenetic studies of spontaneous abortion products have disclosed a relatively high frequency of aneuploid embryos. These karyotypic anomalies chiefly stem from meiotic errors affecting the distribution of the chromosomes in one of the two gametes. This information not only implies the remarkable frequency of gonocyte aneuploidy but also reveals the prevalence of certain types of errors. It follows that gametal haploidy is often altered by the loss (nullisomy) or the addition (disomy) of certain members, in particular the X, the Y, and chromosomes 15, 16, 21, and 22.Therefore, it is to be expected that, in some exceptional zygotes, euploidy could result from the random union of a disomic gamete with a gamete nullisomic for the homologue. To this hypothetical phenomenon ‐ which is, however, statistically likely and foreseeable ‐ we have ascribed the name of uniparental disomy, owing to the fact that both members of such a pair arise from only one parent. Furthermore, such a mechanism implies the probability of introducing into the genome pairs of chromosomes with whole sequences of identical alleles, a consequence which we describe by the neologism of isodisomy. Such homozygosity for a series of colinear alleles implies, from the genetic stand‐point, risks and advantages akin to those of parental consanguinity.An analogous mechanism could also modulate and modify the consequences of trisomies in which entire segments of two of the three implicated chromosomes, including the supernumerary one, could as well be isoallelic (isodisomic trisomy or di‐isotrisomy). This article briefly states some other predictions stemming from the concept of uniparental disomy, whose confirmation should serve as a test of the proposed hypothesis.
The importance of A′‐d ridge count in dermatoglyphic diagnosis of the Ullrich‐Turner syndrome
Authors: Otto P. A. , Otto Priscila Guimarães , Opitz John M. 
Published: June 2005

AbstractThe dermatoglyphic characteristics of 52 women with the Ullrich‐Turner syndrome were studied and compared to those of a control group of 50 normal women. Through the use of discriminant analysis, it is shown that the use of the A'‐d ridge count alone has the same efficiency in separating Ullrich‐Turner syndrome patients from normal female subjects as discriminant functions here derived and other methods already published in the literature.
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part II: Neuropathological considerations
Authors: Clarren Sterling K. , Alvord Ellsworth C. , Hall Judith G. , Optiz John M. 
Published: June 2005

AbstractUnusual and virtually identical hypothalamic tumors were recently studied in three unrelated neonates with a similar complex malformation syndrome. Previous reports of either the hypothalamic tumors or the syndrome as a whole have not been found. Each tumor was apparent on the inferior surface of the cerebrum and extended from the optic chiasma to the interpeduncular fossa. The tumor replaced the hypothalamus and other nuclei which originate in the embryonic hypothalamic plate; it was principally composed of cells resembling primitive, undifferentiated germinal cells. The term “hamartoblastoma” is used to designate these tumors in order to emphasize the malformational and neoplastic aspects. In addition, short olfactory tracts suggest a relation to the arrhinencephaly field defect.
GENFILES: A computerized medical genetics information network. II. MEDGEN: The clinical genetics system
Authors: Mitchell Joyce A. , Loughman William D. , Epstein Charles J. 
Published: June 2005

AbstractMEDGEN, a clinical genetics information storage and retrieval system, facilitates the handling of medical records for the central genetics clinic and satellite clinics conducted by the University of California, San Francisco. The system is part of the GENFILES genetics network, which handles all of the genetics data generated by a comprehensive medical genetics center.The clinical data stored on each patient include 1) diagnoses, which utilize McKusick catalog numbers as well as our own diagnostic codes; 2) relevant medical, gestational, and pregnancy history; 3) clinical manifestations (functional and structural); 4) karyotype information through a crosslink to the cytogenetics file; 5) ethnic origin of the patients; 6) physical status and sex of the patient; 7) laboratory studies, including results of metabolic tests; and 8) any additional remarks deemed necessary for complete understanding. The date, staff member attending, and physical location of each visit also are recorded.
Virilism as a late manifestation in the Bardet‐Biedl syndrome
Authors: Haning Ray V. , Carlson Ian H. , Gilbert Enid F. , Shapiro Sander S. , Opitz John M. , Karp Laurence E. 
Published: June 2005

AbstractThe second case of virilism as a late manifestation of Bardet‐Biedl syndrome (BBS) is described, with endocrine and histological evaluation. Both cases manifested ovulatory cycles and developed virilism in adulthood. Elevated plasma testosterone and 17‐OH‐progesterone were not suppressed by dexamethasone but were suppressed by medroxyprogesterone acetate. Peripheral and ovarian venous blood obtained at the time of surgery demonstrated a marked gradient for testosterone in both ovaries and for progesterone in the ovary bearing the corpus luteum. Histological evaluation of the ovaries demonstrated bilateral ovarian stromal hyperplasia with focal hyperthecosis. Bilateral ovariectomy resulted in complete correction of the endocrine abnormality, although the established hirsutism remains a mark of previous androgen excess.
Autosomal recessive microcephaly and micromelia in Cree Indians
Authors: Ives Elizabeth J. , Houston C. Stuart , Optiz John M. 
Published: June 2005

AbstractIn a highly consanguineous, predominantly Cree Indian community in northern Saskatchewan, Canada, 14 similarly malformed babies have been born to eight different mothers since 1953. Six of these infants are reported to assist delineation of the syndrome.The major manifestations of the condition are: Intrauterine growth retardation, perinatal death, marked microcephaly, and severe malformations of the limbs, especially the arms. Elbows are fused, forearms are greatly shortened and usually contain only a single bone, and the hands are very abnormal with only two to four malformed digits.Parental consanguinity, a sex ratio close to one, and a 25% segregation ratio all support autosomal recessive inheritance of this syndrome.
X‐linked mental retardation: Renpenning revisited
Authors: Fox Patricia , Fox Dale , Gerrard John W. , Optiz John M. 
Published: June 2005

AbstractNine men with X‐linked mental retardation (MR) belonging to the family originally described by Renpenning and his colleagues have been reexamined and restudied. None of these men have the fragile X chromosome, and none have macro‐orchidism; their testes range in size from small to average. All but one are severely retarded; one has an IQ of 70, the mean IQ of the remainder is 30 with a range of 18 to 45. They are short in stature, have small or normal‐size ears and lower jaws, and a moderate degree of microcephaly, the mean skull circumference being just below two standard deviations from the normal.
Lower limb anomalies in the thrombocytopenia absent‐radius (TAR) syndrome
Authors: Ray Robin , Zorn Elinor , Kelly Thaddeus , Hall Judith G. , Sommer Annemarie , Holmes Louis B. 
Published: June 2005

AbstractWe report a case of the TAR syndrome with severe abnormalities of the lower limbs. The syndrome of thrombocytopenia and radial deformities occasionally presents diagnostic difficulties when severe limb anomalies are present. Based on this case and 2 additional cases from the literature, reduction anomalies of the lower limbs should be considered part of the TAR syndrome.
The genetic dynamics of disease
Authors: Murphy Edmond A. , Opitz John M. 
Published: June 2005

AbstractThe notional principles of the genetics of disease are broadly discussed. Disease is an intrinsically vague term that represents the incongruity between the inner milieu of the organism and the environment. Its dynamics, then, cannot be reduced to naive statements about selection which may operate, and operate conflictingly, on several different levels of organization. Evolutionary selection results from the advantage of complexity, and the fundamental theorem of genetic dynamics — that mutational debts must eventually be paid in full — may be false or, at best, approximate. The traditional models (mendelian, galtonian, and threshold) are set in a context that identifies certain features of disease that hitherto have been totally ignored. Neither invention nor traditional analysis has been adequate. Models should be made individually adequate for the study of diseases; the diseases should not be trimmed to fit the models.
Familial cushing disease
Authors: Salti Ibrahim S. , Mufarrij Imad S. , Opitz John M. 
Published: June 2005

AbstractA 28‐year‐old woman and her niece presented with manifestations of the Cushing syndrome. Endocrine studies, including small‐ and large‐dose dexamethasone‐suppression tests confirmed the diagnosis of pituitary ACTH excess. The first patient had a sella of normal size and went into clinical and hormonal remission after external pituitary irradiation, and she has remained well on follow‐up for 9 years. The niece had an enlarged sella turcica on tomography and is receiving a course of external pituitary irradiation.
Prenatal diagnosis of exstrophy of the cloaca
Authors: Gosden Christine , Brock D. J. H. , Opitz John M. 
Published: June 2005

AbstractWhile screening for neural tube defects, three cases of exstrophy of the cloaca were found through elevated second‐trimester maternal serum alphafetoprotein levels. Measurement of amniotic fluid alphafetoprotein and examination of the structure of rapidly adhering cells confirmed the abnormalities, and the pregnancies were terminated. Subsequent studies of cholinesterase isozymes by acrylamide electrophoresis showed an abnormal acetylcholinesterase band in each of the three amniotic fluids. During the same period, two more cases of exstrophy of the cloaca were identified in spontaneous abortions and another one in a stillbirth. It is suggested that the condition is more common than has been previously suspected and is often misclassified as omphalocele.
Prenatal diagnosis of Maroteaux‐Lamy syndrome
Authors: Dyke Daniel L. Van , Fluharty Arvan L. , Schafer Irwin A. , Shapiro Larry J. , Kihara Hayato , Weiss Lester , Opitz John M. 
Published: June 2005

AbstractMaroteaux‐Lamy syndrome exhibits deficient activity of the enzyme arylsulfatase‐B in cultured skin fibroblasts. Prenatal diagnosis was successfully attempted in two pregnancies of a consanguineous Chaldean couple whose first child is affected with Maroteaux‐Lamy syndrome. In both instances, deficient arylsulfatase‐B activity was observed in amniotic fluid cell cultures, and the diagnosis was confirmed by 35S‐sulfate studies and postmortem enzymology and electron microscopy. The prenatal diagnosis of Maroteaux‐Lamy syndrome remains problematic. Residual activity of arylsulfatase‐B in the affected homozygote can make interpretation difficult, and the behavior of many lysosomal enzymes varies greatly in response to tissue culture conditions and enzyme extraction processes.
Psychotherapeutic considerations in genetic counseling
Authors: Targum Steven D. , Opitz John M. 
Published: June 2005

AbstractIt is essential to consider the psychodynamic aspects of genetic counseling to attain the best outcome for the family. Narcissistic injury (reduced selfesteem), excessive defensiveness, and depressive reactions may impede an effective resolution of feelings and preclude the necessary adaptation to genetic diseases and the new realitities that have developed. Most parents of genetically affected children are capable of dealing with these conflicts. However, some individuals need help during the adaptation process by assisting them to grive for their disappointments and to help them develop new goals for themselves and for the baby that was born.This paper describes psychodynamic concepts that might be explored to facilitate conflict‐resolution resulting from the occurrence of genetic disease.
The centralized prenatal genetics screening program of New York City: II. Establishment of prenatal diagnosis laboratory
Authors: Hsu Lillian Y. F. , Benn Peter A. , Karp Lawrence E. 
Published: June 2005

AbstractPrenatal diagnosis of genetic disorders is now being made available to an increasing number of New York City women through the establishment of a large centralized laboratory. This laboratory contracts to provide genetic diagnostic services to municipal and private hospitals throughout the New York City area. It is the first project of such magnitude in the United States. Prior to the receipt of samples for diagnostic purposes, the laboratory was required to meet the highest technical standards, as established by a Cytogenetics Advisory Committee. A set of guidelines was drawn up detailing the procedure and protocols for all the analyses and the reporting of results, including a timetable according to which results were to be obtained. The Cytogenetics Advisory Committee continues to review cases on a regular schedule. One of the unique aspects of the laboratory has been the development of back‐up agreements with other area laboratories to assist in dealing with any problem that might disrupt the routine diagnostic service. The first year of operation of the laboratory has shown that financial, legal, and physical problems associated with designing and instituting a megacenter can be overcome. Similar programs should be encouraged.
Osteomesopyknosis: An autosomal dominant osteosclerosis
Authors: Stoll Claude G. , Collin Dominique , Dreyfus Jean , Opitz John M. 
Published: June 2005

AbstractRadiographs of a 27‐year‐old sterile woman showed increased bone density. The lesions were localized to the spine and pelvis. The condition is inherited as an autosomal dominant trait and has been designated osteomesopyknosis.