bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cystinuria genotypes predicted from excretion patterns
Authors: Kelly Sally , Scriver Charles E. 
Published: June 2005

AbstractGenotypes of 17 patients with cystinuria were predicted from data based on excretion rates of the families' obligate carriers. The methodology differed from that used by other investigators as it did not employ intestinal biopsy studies or loading dose measurements. The Type I form was more common than either Type II or Type III and frequently occurred in combination to give compound heterozygous genotypes with the Type III form.
Normal intelligence in two children with carpenter syndrome
Authors: Frias J. L. , Felman A. H. , Rosenbloom A. L. , Finkelstein S. N. , Hoyt W. F. , Hall B. D. , Opitz John M. 
Published: June 2005

AbstractPrevious reports have noted a constant association between the Carpenter syndrome (acrocephalopolysyndactyly, type II) and mental retardation. We report two patients with this condition with normal intelligence. These observations indicate that mental deficiency is not necessarily a component of the Carpenter syndrome and that early surgical correction of the craniosynostoses may improve the chances of normal mentality.
Cerebral gigantism and primary hypothyroidism: Pleiotropy or incidental concurrence
Authors: Sotos Juan F. , Romshe Carolyn A. , Cutler Edward A. , Opitz John M. 
Published: June 2005

AbstractAn 8.5‐month‐old baby girl had cerebral gigantism and primary hypothyroidism with generalized large muscles (the Kocher‐Debré‐Semelaigne syndrome). The significance of this association remains to be determined.
The Rieger syndrome
Authors: Jorgenson Ronald J. , Levin L. Stefan , Cross Harold E. , Yoder Freda , Kelly Thaddeus E. , Fraser Clarke 
Published: June 2005

AbstractFourteen patients with hypodontia and the ocular features of the Rieger syndrome were examined for the presence of systemic anomalies. A periumbilical defect that consisted of failure of the periumbilical skin to involute was seen in ten of the thirteen evaluated for the defect. Three others had scars over the umbilical area and had a history of surgery for herniation. In addition, four males in one family and one male from another family had hypospadias. None of several other anomalies reported to be components of the Rieger syndrome by other authors was detected in the fourteen patients. The mode of inheritance in the familial cases studied was compatible with autosomal dominance.The results of this study indicate that the Rieger syndrome is an autosomal dominant syndrome whose cardinal features are hypodontia, goniodysgenesis, and failure of the periumbilical skin to involute properly.
Size and pericentric inversion heteromorphisms of secondary constriction regions (h) of chromosomes 1, 9, and 16 as detected by CBG technique in Caucasians: Classification, frequencies, and incidence
Authors: Verma Ram S. , Dosik Harvey , Lubs Herbert A. , Francke Uta 
Published: June 2005

AbstractEighty normal Caucasians were studied by CBG technique for estimation of size and inversion heteromorphisms of chromosomes 1, 9, and 16. Size heteromorphisms were classified into one of five sizes using 16p as a reference standard: very small, small, intermediate, large, and very large. Inversion heteromorphisms were also classified into 5 categories – eg, no inversion; partial inversion – minor; half inversion; partial inversion – major; and complete inversion. The frequencies of size heteromorphisms for chromosomes 1, 9, and 16 were 11.3%, 47.5%, and 7.5%, respectively. Thirty‐four chromosomes were found to have inversions. Of these, 16 were in chromosome 1, and 18 were in chromosome 9. No inversions were found in chromosome 16. An increase in the size of the h region was more frequently associated with inversion, suggesting that there is a possible relationship between size and inversion. For example, there were 118 chromosomes that were classified as “intermediate” by size; 23 (19.5%) had inversions. In contrast, there were 225 that were “small” in size, and only 10 (4.4%) had inversions. There was no significant difference between males and females for size and position heteromorphisms.
Kaufman oculocerebrofacial syndrome: Case report
Authors: Jurenka Stanislava B. , Evans Jane , Optiz John M. 
Published: June 2005

AbstractThe oculocerebrofacial syndrome was described from siblings of both sexes in 1971 by Kaufman. A 12‐year‐old child with a set of corresponding malformations is described. This would suggest that the original report did not describe a “private” syndrome.
Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease
Authors: Elejalde B. Rafael , Holguin Jorge , Valencia Aurora , Gilbert Enid F. , Molina Jaime , Marin Gabriel , Arango Luis A. , Witkop Carl J. 
Published: June 2005

AbstractWe describe a syndrome identified in three consanguineous families who had two and probably four common ancestors five generations ago. The syndrome is characterized by profound dysfunction of the central nervous system, silver‐leaden colored hair, abnormal melanosomes and melanocytes, and abnormal inclusion bodies in fibroblasts, bone marrow histiocytes and lymphocytes which appear to represent abnormal lysosomal bodies.Because of the biochemical relationships between melanin‐melanosomes and neuromelanin, we think that all the manifestations of the condition are related to and represent pleiotropic effects of a newly identified gene in man in its homozygous state.Biochemical reactions of the cells of these patients indicate presence of tyrosinase in the melanosomes and show that the substance accumulated in cultured fibroblasts and in the bone marrow histiocytes is a PAS and Oil‐red‐O positive material but is Oil‐red‐O negative after extraction; it has the typical reactions of melanin with the Masson and Fontana stain, but cannot be considered typical melanin, since without stain it is colorless. The ultrastructural studies showed round granules with variable matrix, similar in fibroblast and bone marrow, and with variable intensity of reaction to osmium.This mutation principally affects the neuroectoderm, but also the mesoderm.
Cytogenetic studies of a male with sporadic intestinal lymphangiectasia: 45,X/46,XY mosaicism with pseudo‐ and hyperdiploid subpopulations in cultured tissues
Authors: White Beverly J. , Crandall Clare , Flier Jeffrey S. , Raveché Elizabeth S. , Tjio Joe‐Hin , Summitt Robert L. 
Published: June 2005

Abstract45,X/46,XY mosaicism was found in peripheral blood, bone marrow, and tissue cultures of an adult male with intestinal lymphangiectasia (IL). Turner phenotype was not present; his meiotic metaphase analysis was normal, and his dermatoglyphics resembled those of his family.Ten separate tissue culture lines from three biopsies of skin and thyroid gland contained 45,X cells (14.8 to 78.3%). Autosomal aneuploidy, resulting in pseudo‐ or hyperdiploidy, was also present in 4.3 to 41.6% of the cells. A hyperdiploid clone with a 47,X,+10,+18 karyotype was found in 22.6% of cells in one line. A second hyperdiploid clone with a 48,X,+2,+18,+18 karyotype occurred in 7.6% of cells from another line containing a total of 41.6% pseudo‐ and hyperdiploid cells. Such clonal abnormalities were not typical of tissue cultures from other patients done in our laboratory.Growth of our patient's tissue cultures was subnormal, and none proliferated beyond the fourth subculture. The significance of this observation remains to be determined. Our results do not allow us to conclude whether our patient's mosaicism of somatic tissues arose during embryogenesis, or whether it originated post‐natally. The secondary immunodeficiency which occurs in IL may explain persistence of cells with unusual combinations of autosomal aneuploidy in our patient's tissues.
Christ‐Siemens‐Touraine syndrome—a clinical and genetic analysis of a large Brazilian kindred: I. Affected females
Authors: Pinheiro M. , Freire‐Maia N. 
Published: June 2005

AbstractA total of 27 women of a Brazilian kindred are described as having one or more signs of the Christ‐Siemens‐Touraine syndrome. The history and physical examination were supplemented by four sweat tests and dermatoglyphic analysis. It is suggested that this syndrome has two forms – a major form (in males) and a minor one (in females). Two signs verified in some of our patients (mosaic patchy distribution of body hair and radial deviation of distal phalanges of index fingers) seem to be here described for the first time. A review of the literature shows a corrected sex ration between 1M:1.21F and 1M:2.38F among affecteds. Since the manifestation rate of the gene among carriers was estimated at about 0.70, the actual sex ratio is expected to be not lower than 1M:1.40F. Contrary to a general opinion, affected females outnumber affected males.
Christ‐Siemens‐Touraine syndrom—a clinical and genetic analysis of a large Brazilian kindred: III. Carrier detection
Authors: Pinheiro M. , Freire‐Maia N. 
Published: June 2005

AbstractDetection of carriers of the Christ‐Siemens‐Touraine syndrome on the basis of data of physical examination has been possible in about 60–70% of the cases reported in 44 papers, including a large Brazilian kindred studied by the authors. Partial data, however, showed detection values ranging from 42% to 84%.
4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations
Authors: Crane James , Sujansky Eva , Smith Ann 
Published: June 2005

AbstractThirty reports of partial 4p trisomy have been published. The manifestations and cytogenetic findings in four additional cases from two families are described in the present paper. Segregation analysis has been performed on the 21 families reported to date. The risk of having unbalanced offspring was the same in carrier mothers and carrier fathers. The risk of trisomic offspring was 14%. Among phenotypically normal progeny, normal karyotypes and balanced translocation states occurred with about equal frequency.
Inborn errors of lysosomal catabolism—principles of heterozygote detection
Authors: Jolly R. D. , Desnick R. J. 
Published: June 2005

AbstractCarriers of an inborn error of lysosomal catabolism can be recognized, as they have enzyme levels approximately half those of normal individuals. Of the various tissues readily available for assay, plasma and leuk ocytes and, in some situations, tears are preferred. Although mixed leuk ocytes have proved satisfactory in Tay‐Sachs screening programs, purified preparations of granulocytes or lymphocytes will allow better discrimination in most situations. Enzymes are assayed relative to some other reference parameter which must be a constant or highly correlated with test enzyme activity. In the two mass screening programs in operation, β‐hexosaminidase A and α‐mannosidase have both been assayed relative to total β‐hexosaminidase activity. Carrier detection is particularly important in X‐linked diseases. The techniques used mostly involve hair roots or fibroblasts and depend on random inactivation of the X chromosome. In the mucolipid oses II and III, in which there are a number of deficient enzymes in cells, carriers may be identified on the basis of the ratio of β‐hexosaminidase I1 and I2 to total hexosaminidase.
Pentasomy X with multiple dislocations
Authors: Dryer Randall F. , Patil Shivanand R. , Zellweger Hans U. , Simpson Jane M. , Hanson James W. , Aschenbrenner Carol , Weinstein Stuart L. 
Published: June 2005

AbstractWe describe a pentasomy X (49,XXXXX) patient whose multiple dislocations led to a consideration of the Larsen syndrome. Review of the 11 reported cases of pentasomy X showed that elbow dislocations are known to occur in this syndrome. Our patient is the first to present hypoplasia of the glenoid process with consequent shoulder dislocation. Clinical and radiologic findings of previously reported cases of pentasomy X are reviewed.
Partial trisomy 20 confirmed by gene dosage studies
Authors: Rudd Noreen L. , Bain Harry W. , Giblett Eloise , Chen Shin‐Han , Worton Ronald G. 
Published: June 2005

AbstractWe describe a female infant with multiple congenital anomalies and mental retardation, pre‐ and postnatal growth failure, microcephaly, unusual facial appearance, and minor skeletal anomalies, all very suggestive of the partial trisomy 20(p) syndorme. Although she was born to karyotypically normal parents, she had an extra small metacentric chromosome. Analysis of metaphase and prometaphase chromosomes by GTG banding and Giemsa 11 staining showed that the extra chromosome was a number 20 with a deletion of the distal end of the long arm. Gene dose studies of adenosine deaminase (ADA) and inosine triphosphatase (ITP) supported the cytogenetic interpretation.
Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false‐positive serological test for syphilis
Authors: Weinberg J. B. , Hasstedt S. J. , Skolnick M. H. , Kimberling W. J. , Baty B. 
Published: June 2005

AbstractElliptocytosis, multiple lipomatosis, and biological false‐positive serological test for syphilis (BFPSTS) were found in a single individual. One hundred eighty relatives were tested for the three diseases: 74 were typed for seven blood group antigens, and 58 were typed for four electrophoretic enzyme markers. Likelihood analysis of the pedigree data confirmed independent dominant inheritance for elliptocytosis and lipomatosis. BFPSTS appears dominant, but the analysis was inconclusive. No linkages were found between any disease gene and any marker gene. Two female pedigree members with BFPSTS developed systemic lupus erythematosus, a finding in agreement with the previously described association. The analysis did not lead to any conclusions about the causal relationship between the two traits.
Investigation of acephalus
Authors: Deacon J. S. , Machin G. A. , Martin J. M. E. , Nicholson S. , Nwankwo D. C. , Wintemute R. 
Published: June 2005

AbstractWe report twins, one of whom was diagnosed as grossly abnormal by ultrasound at 28 weeks' gestation. Postmortem angiographic investigation of this acardiac twin and of the inter‐fetal placental anastomoses are reported. The acardiac fetus had a 45,X chromosome constitution, while the other twin had apparently normal chromosomes (46,XX). The association of chromosome anomaly with holoacardius acephalus is discussed.
Sex chromosome aneuploidy and anthropometry: A new proportionality assessment using the phantom stratagem
Authors: Miller R. , Ross W. D. , Rapp A. , Roede M. , Opitz John M. 
Published: June 2005

AbstractReported anthropometric data on 121 subjects with 47, XYY, 47,XXY, 47,XXX, and 45,X aneuploidies were compared to those from 578 male and female control subjects by use of a single, unisex reference person (“phantom”). Subjects and controls were geometrically scaled to a standard stature of 170.18 cm, thus eliminating variance due to height. Deviations of anthropometric variables from specified phantom values were expressed as standard z‐scores. By comparing z‐scores of individual aneuploidy classes with those of their controls, further differences in proportionality came to light. The stratagem disclosed a systematic proportionality pattern between subjects and controls which appeared to be related to each specific sex chromosome aneuploidy. The phantom stratagem for proportional growth assessment appears to merit further use in genetic investigations where individual differences in size and shape confound the analysis of anthropometric data.
Huntington disease: Linkage analysis with age‐of‐onset corrections
Authors: Hodge Susan E. , Spence M. Anne , Crandall Barbara F. , Sparkes Robert S. , Sparkes Maryellen C. , Crist Michol , Tideman Susan 
Published: June 2005

AbstractEleven extended pedigrees segregating autosomal dominant Huntington disease (HD) were analyzed for linkage with 15 gene markers. A straight‐line age correction (STLN), fitted roughly to published age‐of‐onset data but excluding the oldest and youngest ages, was used. The results failed to confirm a positive lod score reported by Brackenridge et al [1978] between HD and haptoglobin (Hp); our lod scores, taken alone, would rule out this linkage. No lod score in our study exceeded 0.40. Three informative markers, adenosine deaminase (ADA), Hp, and MNSs, were used to compare results obtained by employing different age corrections during lod score calculation. In addition to STLN, a least‐squares line (LSQR) and a cumulative normal curve (CUMN) were used. CUMN was assumed to be the most accurate, since it fitted the data most closely. For comparison, two methods involving no age correction were also examined: one in which all unaffected persons were uniformly assigned a 50% penetrance (NONE) and one in which all younger at‐risk persons were removed from the analysis (REMV). NONE and REMV distorted lod scores, in some cases strikingly. More importantly, they also sometimes biased the estimate of the recombination fraction. In contrast, STLN and LSQR gave results generally very similar to those found using CUMN. Thus, it was concluded that the exact shape of the age correction used is not critical to linkage analyses, but that failure to use any correction may lead to unacceptable results.
Utility and limitations of chromosome banding in pre‐ and postnatal service cytogenetics
Authors: Fisher N. L. , Starr E. D. , Greene T. , Hoehn H. , Kaye Celia 
Published: June 2005

AbstractThis report analyzes detection rates of chromosome aberrations as a function of staining technique. Of 1,717 peripheral lymphocyte cultures processed by a midsize service cytogenetics laboratory, 23 chromosomal aberrations (1.3%) would not have been detected without the use of either R‐banding or G‐banding. These 23 cases comprise 21 of 64 non‐Robertsonian structural autosomal changes and two of 68 gonosomal aberrations. In contrast, in 1,634 amniotic fluid cell cultures only one balanced rearrangement (0.06% of all cases) would not have been detected without banding. Combined with incidence rates from newborn cytogentic screenings, these figures suggest that among 10,000 prenatal diagnoses for advanced maternal age, at most one chromosomally unbalanced fetus would be missed if banding were not routinely applied. Because of savings in time and possible automation, it is estimated that discretionary rather than routine use of chromosome banding in prenatal cytogenetics would allow for detection of at least twice as many age‐related aneuploidies. In view of sharply rising demand for prenatal cytogenetic services, a discretionary approach might therefore assure a more equitable distribution of limited cytogenetic resources.
Characteristics of births in each cycle of the bimodal monthly distribution in cystic fibrosis
Authors: Brackenridge C. J. , Miller James R. 
Published: June 2005

AbstractThe bimodal monthly birth distribution of patients with cystic fibrosis (CF) in Victoria, Australia, is shown to be similar within and among sibships, so that intrafamilial concentration of births around March (mode 1) or September (mode 2) cannot explain the observed periodic pattern. Mode 2 children are subject to a higher stillbirth rate and have younger maternal ages than mode 1 children. A sample of persons dying with CF in England and Wales displaying a similar bimodal birth pattern is shown to have a reduced infant survival rate for males of mode 2. These findings suggest that two annual cycles are a more appropriate model than a six‐monthly cycle. An attempt is made to equate mode 1 in the northern hemisphere with mode 2 in the southern hemisphere by pointing out the high perinatal death rate in the former and the high still‐birth rate in the latter.
Invited editorial essay: The legal implications of refusing to provide prenatal diagnosis in low‐risk pregnancies or solely for sex selection
Authors: Wright Ellen E. , Shaw Margery 
Published: June 2005

AbstractAs more people learn about prenatal diagnosis, medical personnel are increasingly being asked to perform these procedures in both low‐risk pregnancies and for purposes of sex selection. Analysis of present legal rules illustrates that it is highly unlikely genetic counselors will be subjected to legal liability for refusing to provide prenatal diagnosis in these situations. This freedom from liability will probably continue into the foreseeable future, despite recent developments in the areas of informed consent and allocation of scarce medical resources that tend to limit the traditionally broad deference given to medical personnel.
Stimulation of amniotic fluid cell growth by cartilage growth factor
Authors: Golbus Mitchell S. , Djalali Mahmoud , Klagsbrun Michael , Kaback Michael M. , Levenson Richard M. , Epstein Charles J. 
Published: June 2005

AbstractCartilage growth factor (CGF) stimulates the growth of primary and secondary cultures of human amniotic fluid cells. Over a 14–16‐day period there is an approximately 70% enhancement in the number of cells in primary cultures and a 170% increase in secondary cultures. Neither the karyotype nor the specific activities of lysosomal enzymes are altered by the presence of CGF in the medium.
Autosomal‐dominant inheritance of distal arthrogryposis
Authors: McCormack Michael K. , Coppola‐McCormack Patricia J. , Lee Ming‐Liang , Hall Judith G. 
Published: June 2005

AbstractWe report on a 32‐year‐old Italian man, his 5‐year‐old daughter, and his 3 1/2‐year‐old son, all of whom had congenital joint contractures. Each has severe ulnar deviation of fingers and soft‐tissue contractures of both hands; and each had bilateral clubfeet at birth. The father is short in stature, as are the children, who also have delayed carpal ossification. The findings in this family suggest autosomal‐dominant inheritance of the condition. The clinical features are consistent with the condition currently referred to as “distal” arthrogryposis.
Assessment of prospective genetic counseling in the Ferrara area
Authors: Barrai I. , Vullo C. , Opitz John M. 
Published: June 2005

AbstractA group of 613 heterozygotes for beta thalassemia (267 married, 346 unmarried) who were screened mostly at elementary school age, were identified and interviewed at the average age of 23.7 years to assess their knowledge of the heterozygous state and its implications.It was found that 83% recalled some information about their heterozygous state; only 60% had some information about the meaning of being heterozygous, and only 26% said they knew of some relationship between Cooley's anemia and the heterozygous state for beta thalassemia.In the married group, the proportion of those having married another carrier was in agreement with random mating expectations. It was concluded that there is ample room for improvement in the procedures of delivery of prospective genetic counseling at the population level in this area.
Genetic analysis of von Willebrand's disease in two large pedigrees: A multivariate approach
Authors: Goldin Lynn R. , Elston Robert C. , Graham John B. , Miller Connie H. , Murphy Edmond A. 
Published: June 2005

AbstractClinical and laboratory data, including polymorphic marker traits for linkage analysis, were collected from two large multigenerational families segregating for von Willebrand disease. A new approach to the identification of gene carriers in these families, combining pedigree segregation analysis with multivariate discriminant analysis, is applied. Whereas individually the clinical symptoms and the factor VIII related activities could not distinguish between hypotheses, it was possible to find a discriminant function showing consistency of the data with a dominant gene hypothesis, but not with a recessive gene or an environmental hypothesis. This function is estimated to lead to 3.2% and 5.5% minimum misclassification of the genotypes, respectively, in the two families. The discriminant function could be used for other families, but is should be calibrated for the specific population in which it is used.Among the markers investigated, GPT is the most likely to be linked to von Willbrand's disease, with a maximum lod score of about unity at 15% recombination.