bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial correlations from genes and shared environment for urine, plasma, and intraerythrocytic sodium
Authors: Hunt Steven C. , Dadone Mary M. , Williams Roger R. , Wu Lily L. , Smith Jean B. , Kuida Hiroshi , Ash K. Owen , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSpouse–spouse, sib–sib, and parent–offspring correlations were calculated for urinary, plasma, and intracellular sodium levels on over 1,900 persons aged 3–86 years in 98 Utah kindreds. For 36 hours prior to their clinic visit, 31% of the sample was salt‐loaded with salt tablets, while the rest followed their normal diet. For those on their normal diet, urine creatinine‐, age‐, and sex‐adjusted urinary sodium excretion from a timed 12‐hour overnight sample showed similar and significant correlations between spouses (r = .29), sibs less than 20 years old (r = .38), and parent–offspring pairs for offspring less than 20 years old (r = .29). This contrasted with the lower correlations between sibs 20 years of age and older (r = .10) and parent–offspring pairs for offspring 20 years of age and older (r = .13), presumed to live in different households. Adult plasma sodium sib–sib (r = .13) and parent–offspring (r = .15) correlations were similar to the urinary sodium correlations, while the spouse–spouse (r = .48), the sib–sib (r = .64), and the parent–offspring (r = .63) correlations for those presumed to live in the same household nearly doubled. Intracellular sodium correlations for the adult sibs (r = .32) and offspring (r = .36) were over twice as large as for urinary or plasma sodium, although the spouse–spouse correlation (r = .37) remained large also. Using the salt‐loaded families, only the sib–sib and parent–offspring correlations for those sibs and offspring who were less than 20 years of age for plasma sodium and the spouse–spouse correlation for intracellular sodium changed (decreased). These results indicate that there is a large environmental component not only for urinary sodium excretion but also for plasma sodium concentration, and that plasma sodium may also reflect changes in dietary sodium intake. Intracellular sodium concentration, on the other hand, seems to have a larger genetic component, although because the spouse–spouse correlations were large and decreased upon salt‐loading, there also appears to be an environmental component that can modify the genetically determined sodium handling in an individual.
Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister‐Killian syndrome): Report of 11 cases
Authors: Reynolds James F. , Daniel Art , Kelly Thaddeus E. , Gollin Susanne M. , Stephan Mark J. , Carey John , Adkins William N. , Webb Mary Jane , Char Florence , Jimenez Jorge F. , Opitz John M. , Neri Giovanni 
Published: June 2005

AbstractWe report on 11 cases of isochromosome 12p mosaicism (or Pallister mosaic aneuploidy syndrome) in which the isochromosome is usually absent in cultured lymphocytes but present in fibroblasts. The patients range in age from a 22‐week‐gestation fetus to a 45‐year‐old man. They have a distinct pattern of anomalies which enables one to make a diagnosis based on clinical manifestations alone. Craniofacial manifestations include “coarse” face with prominent forehead, spars‐ity of scalp hair, hypertelorism, epicanthal folds, flat bridge of nose, and highly arched palate. Affected newborn infants are profoundly hypotonic with sparsity of scalp hair especially bitemporally and a prominent forehead. Most have accessory nipples. Birth weight and growth parameters are usually normal; however, some newborn infants are unusually large. In infancy, the facial appearance becomes “coarse,” hypotonia persists, and seizures may occur. As adults, growth may be normal, scalp hair is thicker and the mandible becomes prominent. Most have a generalized pigmentary dysplasia which may be evident with a Wood's lamp only. All cases have been sporadic and there is no consistent pattern of advanced parental age.
Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks
Authors: Gollop Thomaz Rafael , Eigier Alberto , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on the prenatal ultrasound diagnosis of diastrophic dysplasia at 16 wk of gestation. The ultrasound examination showed abnormally short limbs and lateral projection on the thumbs. Radiological and histological studies confirmed the presence of diastrophic dysplasia in the aborted fetus.
ReCAP: The registry of cytogenetic abnormalities and phenylketonuria
Authors: Friedman J. M. , Smith Janet P. , Lerner Barbara N. , Helgeson Jean S. , Howard‐Peebles Patricia N. , Mize Charles E. , Mize Susan G. , Singleton William L. , Smith M. Eileen , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe Registry of Cytogenetic Abnormalities and Phenylketonuria (ReCAP) is a multicenter collaborative registry of information on patients with constitutional cytogenetic abnormalities or hyperphenylalaninemia (HPA). Data are entered by microcomputer at four contributing centers. Records are then electronically trans‐mitted to the coordinating center, where the composite cytogenetic and hyperphen‐ylalaninemia databases are maintained on a mainframe computer. A set of programs, known as the ReCAP ISCN Translator, is used to create additional database records describing in detail the chromosome abnormalities present in each patient. The ReCAP computer system permits rapid and flexible retrieval of cases on the basis of any combination of laboratory, clinical, psychometric, or genetic characteristics contained within the databases. Special procedures protect patient confidentiality and assure that ReCAP data are of consistently high quality. Qualified investigators may use ReCAP as a resource for a variety of scientific studies.
Possible prenatal hydantoin effect in a child born to a nonepileptic mother
Authors: Chodirker Bernard N. , Chudley Albert E. , Reed Martin H. , Persaud T. V. N. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a child who was born with marked digital hypoplasia of his right hand. Although the mother was not an epileptic, the child was exposed in utero to diphenyIhydantoin.
Phenotypic variation in male‐transmitted fragile X: Genetic inferences
Authors: Loesch Danuta Z. , Hay David A. , Sutherland Grant R. , Halliday J. , Judge C. , Webb G. C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThree families with confirmed and one family with suspected male transmission of the fragile X are presented, with psychological and physical assessment of all available members. The psychological tests used were the Peabody Picture Vocabulary test and Block Design which measured verbal and non‐verbal abilities, respectively. Physical status was assessed by recording dysmorphic features and by anthropometric measurements.This study demonstrated that there are appreciable differences in mental and physical status within sibships of daughters of male carriers, as well as recognizable physical alterations and intellectual impairment in the transmitting males.These fmdings contradict the concept that there are two distinct categories of fragile X carriers: phenotypically normal as opposed to affected. They suggest instead that the defect may be graded and emphasize the importance of intellectual deficits and physical alterations in defining the fragile X phenotype, both in low‐penetrant males and female heterozygotes.
Herrmann‐Opitz syndrome: Report of an affected fetus
Authors: Anyane‐Yeboa K. , Kasznica J. , Malin J. , Maidman J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIn 1969, Herrmann and Opitz described a syndrome of acrocephaly, oligosyndactyly, hypertelorism, and mental retardation. We report on a second case, a fetus with cleft palate, urethral astresia, oligohydramnios, and intrauterine death.
Tetrasomy 9p caused by idic (9) (pter→q13→pter)
Authors: Cavalcanti Denise Pontes , Ferrari Iris , de Almeida José Carlos Cabral , de Pina Neto João Monteiro , de Oliveira José A. , Reynolds James F. 
Published: June 2005

AbstractCytogenetic investigation on a malformed male infant showed an extra chromosome similar to chromosome 9 in all metaphases studied. GTG, CBG, and G‐11 staining suggested that the extra chromosome was an abnormal 9, permitting the identification of the chromosome constitution as 47,XY, +idic (9) (pter→q13→pter).
Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews
Authors: Maloth Yehuda , Chazan Sara , Cnaan Avital , Gelernter Ilana , Klibansky Chaya , Reynolds James F. 
Published: June 2005

AbstractIn this study we estimate the frequency of carriers of chronic (type I) Gaucher disease among Ashkenazi Jews by examining the glucocerebrosidase activity in leukocytes in a population of 635 blood donors (441 Ashkenazi) and 57 obligatory heterozygotes. Estimation using the defect in the enzyme glucocerebrosidase (beta‐glucosidase) in leukocytes is complicated by the existence of considerable overlap between enzyme activity in normals and in heterozygotes. The assay was carried out with a natural substrate labeled with 14C. Discriminant analysis was used to establish an optimal cutoff point between the obligatory heterozygotes and normal (non‐Ashkenazi) subjects for the purpose of estimating frequency of carriers. Applied to the Ashkenazi group, the cutoff point identified 3.17% as heterozygotes. Corrected for errors in classification, the carrier rate was estimated as 4.67%. This figure is in good agreement with a carrier rate of 4% estimated from the number of known cases of clinical Gaucher disease ascertained in Israel.
The use of measured genotype information in the analysis of quantitative phenotypes in man. II. The role of the apolipoprotein E polymorphism in determining levels, variability, and covariability of cholesterol, betalipoprotein, and triglycerides in a sample of unrelated individuals
Authors: Boerwinkle Eric , Visvikis Sophia , Welsh Dorothy , Steinmetz Josiane , Hanash Samir M. , Sing Charles F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractRecent advances in molecular biology provide measures of genotypes at loci involved in lipid metabolism. Genotypes for apolipoprotein E (apo E) and quantitative levels of total plasma cholesterol, betalipoprotein, and triglycerides were measured in a sample of 223 unrelated individuals from Nancy, France. The frequencies of the ε2, ε3, and ε4 alleles are 0.13, 0.74, and 0.13, respectively, in this sample. Significant differences among apo E genotypes were detected for these lipoprotein phenotypes. The average effect of the ε2 allele was to reduce total plasma cholesterol and betalipoprotein levels by 0.52 mmol/L and 0.98, respectively, while the ε4 allele raised these levels by 0.26 mmol/L and 0.61, respectively. Apo E genotype specific correlations suggest that this locus also has an effect on the coordinated metabolism between cholesterol and triglycerides. We infer that approximately 17% of the genetic variability in total plasma cholesterol may be attributable to this apo E polymorphism. No other single locus has been identified with such a large contribution to cardiovascular disease risk factors in the general population.
Microcephaly: Genetic counselling and antenatal diagnosis after the birth of an affected child
Authors: Tolmie J. L. , McNay Margaret , Stephenson J. B. P. , Doyle D. , Connor J. M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe the clinical and genetic details of a series of microcephalic patients who were referred to the Genetic Counselling Service for the West of Scotland. There were 29 isolated cases of microcephaly and 9 families with recurrent microcephaly. The sib recurrence risk was 19%, which reflects the high incidence of autosomal recessive microcephaly in this series. There was evidence for several varieties of recessive microcephaly. The most frequent, affecting 5 sib pairs, was associated with spastic quadriplegia, seizures, and profound mental handicap.In 15 families with one microcephalic child, prenatal diagnosis by serial ultrasound scans was undertaken in 21 subsequent pregnancies. Four recurrences of microcephaly were detected in the third trimester and one recurrence was missed because no scans were performed after 24 wk gestation when the ultrasound measurements indicated satisfactory head growth. The main reason for late diagnosis of affected fetuses was that head growth did not slow appreciably until the last trimester. The high recurrence risk in this prospective series emphasizes the contribution of autosomal recessive inheritance of microcephaly amongst patients of our Genetic Counselling Service.
Linkage analysis in spinopontine atrophy: Correlation or HLA linkage with phenotypic findings in hereditary ataxia
Authors: Bale Allen E. , Bale Sherri J. , Schlesinger Sandra L. , McFarland Henry F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractBecause linkage has been reported between HLA and the locus for hereditary ataxia in some families, we studied a 3‐generation kindred in which several individuals had dominantly inherited spinopontine atrophy. Affected family members had upper and lower limb ataxia, hypoactive reflexes, loss of proprioception, dysarthria, dysphagia, and pronounced extraocular movement abnormalities. Linkage analysis, based on 25 markers in 28 people, gave strongly negative results with both HLA (z < −2.0 for θ < 0.15) and GLO1 (z < −2.0, θ ⩽ 0.01). The highest LOD score was for linkage to GPT on chromosome 16 (z = 0.42, θ = 0.0), To assess the relationship between HLA linkage and phenotype, 4 published kindreds with adequate clinical and neuropathological descriptions were used for comparison to the present family. Persons in the 3 families showing evidence for HLA linkage had clinical and pathologic changes consistent with olivopontocerebellar atrophy, type 1. The conditions in the 2 “nonlinked” families were phenotypically distinct from the HLA‐linked condition with respect to extraocular movement findings and peripheral sensory nervous system signs. They differed markedly from each other in neuropathologic changes.
Deletion of 2p: A cytogenetic and clinical update
Authors: Neidich Julie , Zackai Elaine , Aronson Margaret , Emanuel Beverly S. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe locus for acid phosphatase (ACP1) had been alternately assigned to two conflicting regions on the short arm of chromosome 2. We present a clinical and cytogenetic report of one patient who has an interstitial deletion of 2, del(2) (p23p25.1), and a cytogenetic study of another cell line with an interstitial deletion of 2p (p23.1p25.1). Because both patients are heterozygotes for ACP1, the assignment of ACP1 to 2p25.1→‐pter is supported.
The risk of having a second retarded child
Authors: Costeff Hanan , Weller Leonard , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have studied segregation ratios in 282 Israeli families with normal, nonconsanguineous parents and retarded offspring without specific etiologic diagnosis. Severity of retardation and nature of medical history significantly affected recurrence risk, while sex of propositus and sibs and presence or absence of epilepsy, cerebral palsy, microcephaly, and short stature did not. Segregation rations were 0.095 in cases of severe retardation with normal medical history, 0.216 for mild retardation with normal medical history, 0.230 in cases of all retardation with maternal reproductive inefficiency, and 0.110 for all retardation with other reported prenatal, perinatal, or infantile complications. Estimated recurrence risks in most simplex families dropped sharply with each additional normal child. The recurrence risks are higher than some previously published estimates. Different ascertainment criteria may be responsible for this variation. The criteria used here were compatible with a 3.2% population prevalence of mental retardation with a 0.223 segregation ratio in multiplex sibships. It is recommended that future studies of recurrence risks include similar data permitting evaluation of sensitivity of ascertainment criteria.
Recurrence risk in the Angelman (“happy puppet”) syndrome
Authors: Willems Patrick J. , Dijkstra Irene , Brouwer Oebele F. , Smit G. Peter A. , Reynolds James F. 
Published: June 2005

AbstractWe report on two sibs with Angelman “happy puppet” syndrome. Out of 48 families reported in the literature, this is only the fourth family with affected sibs. A review of the literature shows a low but not negligible recurrence risk. Different explanations for this are discussed.
Interstitial deletion of the long arm of chromosome 3: Case report, review, and definition of a phenotype
Authors: Alvarado Monica , Bocian Maureen , Walker Ann P. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractInterstitial deletions of 3q have, to our knowledge, been reported in only four patients. We present an additional patient with interstitial deletion of 3q, with breakpoints at 3q23 and 3q25. The patient was small for gestational age and had a multiple congenital anomalies (MCA) syndrome including microcephaly; unusual facial appearance with bilateral microphthalmia, blepharophimosis, and ptosis; ventricular septal defect; and bilateral clubfeet. Comparison between the clinical and cytogenetic findings of the present case and those of previously reported cases suggests that a recognizable phenotype may be associated with deletions of 3q2.
Persistent genetic isolation in outport Newfoundland
Authors: Bear J. C. , Nemec T. F. , Kennedy J. C. , Marshall W. H. , Power A. A. , Kolonel V. M. , Burke G. B. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe historical development of genetic isolation has been evaluated for three outport Newfoundland study areas. An attempt was made to ascertain all livebirths in each study area, and determine the parentage of each. Data from records of baptism and marriage were used for this, supplemented with other historical and ethnographic information. Parent–offspring migration was used as a measure of genetic exchange between subpopulations within study areas, and gene flow into the study areas. Currently, 1–8% of parents originate outside the study areas; these rates are low compared to earlier periods, and compared to present‐day rates for European isolate populations. Average kinship was estimated, to measure genetic relatedness within and between subpopulations of each area and the potential for random inbreeding; these values, which are minimum estimates, are now at historically high levels. Increased migration into the study areas, which would decrease average kinship, is not likely. Thus, any regionally or locally elevated frequencies of deleterious alleles will persist, and must be taken into account in providing genetic counseling and evaluating the utility of local screening programs.
Y‐derived sequences detected in a 45,X male by in situ hybridization
Authors: Sheehy Robert R. , Brown Michael G. , Warren Richard J. , Schwartzman Mark , Magenis R. Ellen , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA two‐month‐old boy with normal genitalia and descended testes was referred for a suspected hematological disorder. Cytogenetic analysis showed a 45,X chromosome constitution. In situ hybridization with the Y‐derived probe 50f (provided by Professor Marc Fellous) was performed utilizing metaphase chromosomes to determine whether Y material could be detected. A significant amount of label (17 of 150 cells) was found on chromosome 5p suggesting a 5;Y translocation. This translocation was verified by high‐resolution G‐banded and G‐l1‐stained chromosomes.
Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature
Authors: Witt David R. , Hoyme H. Eugene , Zonana Jonathan , Manchester David K. , Fryns Jean Pierre , Stevenson J. Geoffrey , Curry Cynthia J. R. , Hall Judith G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe Noonan syndrome (NS) is a true multiple congenital anomalies (MCA) syndrome with numerous manifestations. An association with lymphedema has been noted, but its pathogenesis is not fully understood. Nine new cases and a review of the literature explore the role of lymphedema in NS, including its pathogenesis, presentations, and phenotypic effects. Consideration is given to developmental stage at time of onset, chronicity, resolution, and anatomic site. It appears likely that lymphedema is a much more frequent concomitant in NS than previously realized.The major source of lymphedema in NS appears to be a presently undefined dysplasia of lymphatic vessels of unknown cause. Further study of lymphedema may provide an understanding of its role in shaping the NS phenotype. Comparison with other MCA syndromes and animal models is made in this regard. Relevance to prenatal diagnosis and treatment is discussed.
Tibial hemimelia: Report on 37 new cases, clinical and genetic considerations
Authors: Richieri‐Costs A. , Ferrareto I. , Masiero D. , da Silva C. R. M. 
Published: June 2005

AbstractWe report on 37 patients belonging to different families, who have the tibial hemimelia‐split hand/foot syndrome. Genetic aspects and phenotypic manifestations are compared with previous reports of tibial hemimelia. An attempt to clinical and genetical approach is suggested.
Gaucher disease: Accurate identification of asymptomatic French‐Canadian carrier using nonlabeled authentic sphingolipid substrate N‐palmitoyl dihydroglucocerebroside
Authors: Choy Francis Y. M. , Bouillon Louis , Laurin Carroll A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractGaucher disease is an autosomal recessive sphingolipidosis associated with deficient glucocerebroside β‐glucosidase activity. It is a panethnic metabolic disorder, but the carrier frequency is particularly high among Ashkenazi Jews (estimated between 1:12–1:25). In order to establish a reliable and convenient biochemical assay method for differentiating asymptomatic Gaucher carriers from normal individuals, glucocerebroside β‐glucosidase activity was determined in peripheral blood lymphocytes and cultured skin fibroblasts of 11 Gaucher obligate heterozygotes using the authentic nonlabeled Sphingolipid substrate N‐palmitoyl dihydroglucocerebroside and the artificial fluorogenic substrate 4‐methylumbelliferyl‐β‐D‐glucopyranoside (4MUGP). The level of lymphocyte β‐glucosidase activity on the glucocerebroside substrate was observed to range from 42–65% of that of the control mean, and there was no overlap of enzyme activity between the Gaucher heterozygotes and controls. However, when the artificial fluorogenic substrate 4MUGP was used, the level of β‐glucosidase activity in 2 of the Gaucher obligate heterozygotes was noted to overlap with that of the control individuals. Contrary to findings in the lymphocytes, cultured skin fibroblasts appear to be a reliable enzyme source for Gaucher carrier detection even when the artificial fluorogenic 4MUGP substrate was used, as the level of β‐glucosidase activity in all of the Gaucher obligate heterozygotes tested was intermediate and distinctly separated from that of the control persons. Using the lymphocyte glucocerebroside β‐glucosidase assay and fibroblast 4MUGP β‐glucosidase assay methods, we identified the carrier status in 3 other relatives and ruled it out in 4 others. These data suggest that nonlabeled glucocerebroside is a reliable and highly specific substrate for either lymphocyte or fibroblast β‐glucosidase activity assay in identifying asymptomatic Gauchcr carriers. Use of the 4MUGP substrate for differentiating Gaucher heterozygotes from control persons, on the other hand, should be restricted to the fibroblast enzyme assay method, as considerable overlap of enzyme activity was noted in lymphocytes.