bluuebunny/crossref_metadata_2025_split huggingface dataset:
Nonsyndromal anencephaly: Possible autosomal recessive variant
Authors: Farag Talaat I. , Teebi Ahmad S. , Al‐Awadi Sadika A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe recurrence of anencephaly in families has been explained on a multifactorial basis. We present two unrelated families with three sibships of several nonsyndromal anencephalics including two pairs of concordantly affected like‐sex twins. A rare autosomal recessive variant is proposed and inheritance is discussed in view of parental consanguinity among the two affected sibships in one family.
Interstitial deletion of the short arm of chromosome 3 (3p14)
Authors: Short M. Priscilla , Shah Kumudini D. , Djamdjian Siranoush , Dische M. Renata , Gilbert Fred , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractDeletions of 3p usually involve the terminal portion (3p25). An interstitial deletion of a proximal 3p segment (3p14) was detected at amniocentesis. The clinical and cytogenetic characteristics of this case and of three previously published cases are reviewed. Cardiovascular and gastrointestinal malformations have not been reported before in association with this particular chromosome abnormality.
Implications of malformations not due to amniotic bands in the amniotic band sequence
Authors: Hunter Alasdair G. W. , Carpenter Blair F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIt is widely accepted that the primary event in the amniotic band sequence (ABS) is early rupture of the amnion, and that the development of the fetus is then disrupted by entanglement and abrasion. The mechanism of the initial rupture is unknown. An argument raised in favor of this theory has been the apparent absence of non‐band‐derived malformations in the ABS. Here we report on four infants with ABS and additional malformations that are not readily explainable on the basis of band disruptions. These infants, together with some additional observations in the literature, and a growing number of reports of familial ABS, raise the question as to whether the formation of bands and other „non‐disruption”︁ abnormalities may have a common primary etiology in some cases. The primary mechanism could operate through disturbing the vascular system, and the factors involved might be both extrinsic or intrinsic, and some instances might date to an abnormality of the germ disk.
Non‐reciprocal translocation (5;15), isodicentric (15) and Prader‐Willi syndrome
Authors: Murdock Rosamond L. , Wurster‐Hill Doris H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA non‐reciprocal translocation (5;15) and an isodicentric (15) resulting in trisomy 15pter→15ql?3 and monosomy 5qter [46,XY,−5,−15,+der(5)t(5;l5)(5pter→5q35::15q13→15qter),+idic(15)(pter→ql?3::ql?3→ pter)] was found in a 28‐year‐old profoundly retarded male resident of a state institution. Early developmental history and childhood and adult physical findings resembled those of Prader‐Willi syndrome (PWS) patients. The parents' unbanded chromosomes were normal. Blood groups of parents and propositus were uninformative with regard to identifying gene deletions or duplications.
Isolated and syndromic cryptophthalmos
Authors: Thomas I. T. , Frias J. L. , Felix V. , de Leon L. Sanchez , Hernandez R. A. , Jones M. C. , Reynolds James F. 
Published: June 2005

AbstractThe association between cryptophthalmos and multiple congenital malformations has been well documented over the last century. Numerous authors have described case as the cryptophthalmos syndrome, but recently reports of cases without cryptophthalmos have led several authors to use the eponymic designation Fraser syndrome.We have seen seven cases of cryptophthalmos syndrome, including three sib pairs. All presented with cryptophthalmos and bilateral renal agenesis in addition to other characteristic associated malformations. A literature review showed 124 cases in which 27 demonstrated isolated cryptophthalmos, while 97 showed a pattern of multiple congenital malformations. We selected four major and eight minor criteria which enabled us to classify 86 of those cases as having cryptophthalmos syndrome with 11 remaining unclassified.Cryptophthalmos demonstrates equal sex distribution, occurrence in sibs, consanguinity in families with more than one affected child, and lack of vertical transmission—strongly suggesting autosomal recessive inheritance. Isolated cryptophthalmos or cryptophthalmos sequence was sporadic in 16 cases and familial in 11. The familial cases occurred in three families and demonstrated vertical transmission.The pathogenesis of this syndrome is unknown. There are similarities to animal models of maternal vitamin A deprivation and defects in programmed cell death. Cryptophthalmos syndrome should be considered in the differential diagnosis of cases with multiple congenital malformations, especially when they are associated with renal agenesis, even in the absence of cryptophthalmos.
Duchen: An interactive computer program for calculating heterozygosity (carrier) risks in X‐linked recessive lethal diseases, and its application in duchenne muscular dystrophy
Authors: Andrews David F. , Brasher Penelope M. A. , Manchester Kathryn E. , Percy Maire E. , Rusk Ann C. M. , Soltan Hubert C. , Trueman David W. , Reynolds James F. 
Published: June 2005

AbstractThe program DUCHEN calculates the probability that a woman is a carrier of an X‐linked, lethal recessive disease on the basis of information in the woman's family and any available biochemical data. It is easily used by persons without computer knowledge or experience. The present version can accommodate families consisting of up to 100 people in seven generations. Risks may be estimated on the basis of pedigree information only, or with the inclusion of one or more types of biochemical test results. Biochemical data are incorporated with pedigree information into final risks using the powerful statistical technique of logistic discrimination, a procedure particularly suited for the separation of non‐normal populations on the basis of overlapping quantitative characteristics. Mutation rates are specified separately for males and females. DUCHEN is available in FORTRAN 77, IBM BASIC, and Applesoft BASIC, and may be used on a variety of mainframe or microcomputers.The model was used to calculate risks for 375 girls and women in 46 families with Duchenne muscular dystrophy (DMD); serum creatine kinase tests had been carried out on 167 of these subjects who were of reproductive age. Carrier probabilities equal to or lower than the population risk (0.0004) were obtained for 21% of the aunts and 43% of the cousins of affected boys from families with an isolated case of DMD and for 14% of the cousins of affected boys from families with a known DMD history. DUCHEN should assist counsellors in determining which members of large families should be further examined using either standard biochemical carrier detection methods or DNA marker studies. Moreover, if the results of the latter are not decisive, then carrier probabilities provided by DUCHEN may be combined with information from DNA marker studies to yield more precise final risks.
Perception of consanguineous marriages and their genetic effects among a sample of couples from beirut
Authors: Khlat Myriam , Halabi Suzan , Khudr Adele , Der Kaloustian Vazken M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe interviewed 100 women who had married a relative and 100 other women of the same age, religious affiliation, and socioeconomic status, but who were not related to their husbands. Both women were selected from a hospital setting in Beirut, and were questioned about their outlook on consanguineous marriages, their awareness of the genetic consequences of consanguinity, and their relationships with in‐laws. In general, the women in consanguineous marriages were more favorably inclined than the matched women to marriages between relatives; however, about half of each group would advise their son/daughter to marry his/her cousin. Awareness of the genetic consequences of consanguinity was wide‐spread among the respondents, although the women who had married a relative were reluctant to express it. These women also reported better relationships with in‐laws, which may be considered as a social benefit derived from consanguineous marriages. Based on the above findings, recommendations are made regarding the content of a public health educational program.
New evidence for genetic heterogeneity of the Freeman‐Sheldon syndrome
Authors: Sánchez José María , Kaminker Catalina Patricia , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two sibs (a boy and a girl) with the Freeman‐Sheldon (FS) syndrome (also called cranio‐carpo‐tarsal “dysplasia” or whistling face syndrome), born to normal parents. This unusual finding may represent genetic heterogeneity, germinal mutation of an autosomal dominant gene, and an epistatic recessive gene that supressed the expression of the abnormal gene in the father, his parents being first cousins. The last 2 mechanisms seem less probable.
Couple agreement before and after genetic counseling
Authors: Sorenson James R. , Wertz Dorothy C. , Reynolds James F. 
Published: June 2005

AbstractBefore receiving genetic counseling, 699 couples completed questionnaires that were identical for both spouses. Of 385 couples where both spouses indicated a major reason for seeking counseling, 45% identified the same major reason while 55% identifed different reasons. In 74% of 542 fertile couples, both spouses had identical short‐term reproductive plans: 60% desired the same ideal number of children; and 44% perceived the same level of risk of having an affected child. Agreement on the seriousness of eleven potential problems occasioned by an affected child ranged from 55% to 67%.Couples were asked to return questionnaires within 7 to 10 days after counseling. At this time 76% of spouses agreed about short‐term reproductive plans; 66% agreed about longer‐term reproductive plans; and 60% agreed about ideal number of children. There were statistically significant increases in agreement about risk interpretation and about six of eleven potential problems in raising an affected child. The data suggest that a substantial number of couples come to genetic counseling with varying concerns and reproductive plans. There is, in general, as much disagreement on these issues between spouses after as before counseling. Implications for counseling are discussed.
Actin and myosin multigene families. Their expression during the formation and maturation of striated muscle
Authors: Buckingham Margaret , Alonso Serge , Barton Paul , Cohen Arlette , Daubas Philippe , Garner Ian , Robert Benoît , Weydert André , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe initial formation of skeletal muscle fibers is accompanied by the expression of muscle‐type actin and myosin genes. During subsequent maturation of muscle fibers in vivo, developmental changes in the fetal/adult isoforms of these proteins occur. Skeletal muscle‐specific transcripts coding for different myosin heavy chains accumulate sequentially both in vivo and in vitro. A genetic analysis demonstrates that these genes are clustered, implicating cis‐acting regulatory factors. In contrast, actin and myosin light chain genes are dispersed in the mouse genome. These gene families show a different developmental “strategy”: Genes expressed in adult cardiac tissue are coexpressed with the corresponding skeletal muscle sequence during fetal development. This phenomenon also occurs in adult tissue. Under conditions of cardiac overload, adult rat hearts accumulate skeletal actin mRNA and cardiac actin transcripts. In some mouse lines, a mutant cardiac actin gene locus is present. The presence of a second active upstream promoter at this locus depresses transcription of the bona fide gene, resulting in low levels of mature cardiac actin mRNA. In this situation skeletal actin gene transcripts accumulate. Genes expressed in the same fetal or adult muscle phenotype are not linked, suggesting that their coexpression is regulated by transacting factors. The promoter regions of such genes in the mouse have no common characteristics of primary structure with the exception of an ElA‐type enhancer core sequence, which has a conserved 5′ flanking element, seen for actin and myosin light chain genes. Reintroduction of these promoter regions into muscle cells provides a functional test for such potential regulatory sequences.
Chromosome anomalies as predictors of recurrence risk for spontaneous abortion
Authors: Morton N. E. , Chiu D. , Holland C. , Jacobs P. A. , Pettay D. 
Published: June 2005

AbstractReproductive histories and chromosomes of spontaneous abortions were studied by segregation analysis in 1890 sibships ascertained through a cytogenetically studied abortion. Normal karyotypes are associated with recurrent abortion. Among abnormal karyotypes, trisomy has an elevated recurrence risk even after adjustment through a liability indicator for maternal age. Possible mechanisms and conflicting evidence in the literature on trisomy are discussed. None of these differences in recurrence risk is large enough to play a significant numerical role in genetic counseling.
Psychological aspects of genetic counseling: IV. The subjective assessment of probability
Authors: Kessler Seymour , Levine Eleanor K. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSubjects asked to compare mathematically equal statements (or frames) of probability invariably perceived a difference in magnitude between percentages and equivalent proportions. Presented as unrelated to genetic risk, percentages tended to be chosen as having greater magnitude than their equivalent proportions. In justifying their choices subjects used a process of reasoning in which numbers were mentally compared, contrasted, or otherwise manipulated (numerical strategy). When framed as genetic risks, two types of reasoning were used to assess probabilities, the numerical strategy and one involving mental images of persons or parts of persons (person strategy). Subjects who used numerical reasoning tended to perceive percentages as having a greater risk magnitude than equivalent proportions whereas when person reasoning was used proportions with denominators of 10 or less tended to be perceived as having a greater risk magnitude than equivalent percentages. The implications of the findings for genetic counseling are discussed.
A specific syndrome due to deletion of the distal long arm of chromosome 1
Authors: Meinecke Peter , Vögtel Dagmar , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have studied 2 patients with de novo deletion 1 (q42.3 → qter): a 5 1/2‐year‐old boy and an unrelated 1 9/12‐year‐old girl. The analysis of the phenotype which is now possible in a total of 23 cases shows that the deletion of the terminal 1q leads to a definable multiple congenital anomalies/mental retardation (MCA/MR) syndrome. The phe‐notype is so characteristic that, as a rule, the clinical data should suggest the correct cytogenetic diagnosis.
Occurrence of desmoids in patients with familial adenomatous polyposis of the colon
Authors: Klemmer Sarah , Pascoe Leigh , DeCosse J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractDesmoid tumors occur at a much higher frequency in association with familial adenomatous polyposis than with any other disease. However, published estimates of risk have varied widely. In this study we have examined the occurrence of desmoids in a population of polyposis patients in order to determine an accurate estimate of the risk of desmoid disease. The crude frequency of desmoids in our population was about 6%, but the risk was dependent on the age and sex of the individuals at risk. The lifetime risk of incurring a desmoid was 8% for males and 13% for females. The distribution of occurrence of desmoid disease with regard to age was unimodal in each sex in contrast to the multimodal distribution observed for desmoids in nonpolyposis patients. Females were more likely to be affected than males and at an earlier age. We also detected heterogeneity of risk between families segregating for the polyposis gene, with the desmoid disease tending to cluster in some of those families. Consequently crude estimates of risk should be used with caution.
Rapid cell culture procedure for tissue samples
Authors: Gray Brian A. , Gollin Susanne M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractCell culture is an integral part of genetic studies, including cytogenetic, metabolic, and DNA analyses. Standard culture procedures used today involve plating minced tissue explants in dishes and waiting 3 to 4 weeks for adequate growth. We describe a method that utilizes collagenase digestion of tissue biopsies, enabling cell harvest as soon as 3 days after culture initiation; this has been used successfully in our laboratory for cytogenetic and metabolic studies. Culture duration can be controlled by the cell plating density. Although collagenase digestion of tissues is commonly used in cytogenetics laboratories for tumor or chorionic villous dissociation, we have found that few labs have considered using this rapid and efficient procedure for routine tissue samples.
Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome
Authors: Donnenfeld Alan E. , Packer Roger J. , Zackai Elaine H. , Chee Claire M. , Sellinger Bea , Emanuel Beverly S. 
Published: June 2005

AbstractEighteen girls with Aicardi syndrome were identified through a survey of neurologists, geneticists, and ophthalmologists. All had infantile seizures, developmental delay, agenesis of the corpus callosum (complete: 72%, partial: 28%), and characteristic chorioretinal lacunar lesions. Costovertebral defects including hemivertebrae, scoliosis, and absent or malformed ribs were present in 39%, cortical heterotopias were present in 50%, and microphthalmia was identified in a third. Cytogenetic investigation was carried out in all families. An unbalanced X;3 translocation, 46,X,der(X)t(X;3) (p22.3;p23)mat, was discovered in a girl with chorioretinal lacunar lesions characteristic of Aicardi syndrome, developmental delay, and infantile seizures. However, this child had a normal appearing corpus callosum on CT and magnetic resonance imaging scans and therefore did not meet the criteria for inclusion in the study. Chromosomes of all other patients and parents were normal. Findings at birth, age of seizure onset, treatment, and prognosis are discussed. The pedigree data from these 18 families demonstrated an unaffected male:female sib ratio of 1:1.7 and a 14% spontaneous abortion rate. The findings of this study support the contention that Aicardi syndrome is an X‐linked dominant disorder with early embryonic lethality in hemizygous males and that all cases represent new mutations.
Osteoclast biology: Lessons from mammalian mutations
Authors: Marks Sandy C. 
Published: June 2005

AbstractMajor contributions to and confirmations of osteoclast biology have been made by experimental investigations of the osteopetrotic mutations in mammals. Congenital osteopetrosis is a bone disease characterized by a generalized increase in skeletal mass due to decreased osteoclast function. Abnormalities of skeletal growth and the failures of marrow cavity development and tooth eruption are secondary to reduced bone resorption of heterogeneous cause. Elucidation of pathogenetic pathways and unraveling of the cell biology of the osteoclast have proceeded hand‐in‐hand. This is illustrated by the variable differentiation and activation of osteoclasts among mutations and by demonstrations that the disease in certain animals and children can be cured by providing competent stem cells for osteoclasts via bone marrow transplantation. Congenital absence of carbonic anhydrase II (CA II) in children results in a syndrome that included osteopetrosis because osteoclasts are unable to function in the absence of CA II. The resistance of all mutations to the hypercalcemic effects of parathyroid hormone and recent reports of elevated blood levels of 1,25 dihydroxyvitamin D have broadened the scope of pathogenetic possibilities for osteopetrosis and regulatory possibilities for osteoclasts. Immunological effects including reductions in natural killer cell activity, superoxide and interleukin‐2 production make osteopetrotic mutants potential models for studying the role of the immune system in osteoclast biology. Furthermore, coexistence of osteopetrosis with rickets and osteoblast abnormalities and the failure of cell transplants to cure the disease in some mutations illustrate the utility of the osteopetroses for exploring the role of matrix as mentor in osteoclast biology. Thus, understanding congenital osteopetrosis and osteoclast biology are likely to continue together.
Structure of the elastin gene and alternative splicing of elastin mRNA: Implications for human disease
Authors: Indik Zena , Yeh Helena , Ornstein‐Goldstein Norma , Kucich Umberto , Abrams William , Rosenbloom Joan C. , Rosenbloom Joel 
Published: June 2005

AbstractThe protein elastin is largely responsible for the elastic properties of vertebrate lungs, large blood vessels, and skin. The structure of the human, bovine, and chick elastin gene and protein monomer, tropoelastin, has recently been elucidated by using techniques of molecular biology. Extensive homology of amino acid sequence exists among the mammalian species and there is in addition strong conservation of nucleotide sequences in the 3′ untranslated region of the gene. The translated exons are small and embedded in large expanses of introns. Sequences coding for the hydrophobic regions, responsible for the elastic properties of the molecule, and the alaninelysine rich regions, responsible for crosslink formation between molecules, reside in separate exons and alternate for the most part in the elastin gene. S1 analyses and sequence analysis of cDNA and genomic clones have indicated that there is substantial alternative splicing of the primary elastin transcript. Variations in the structure of mRNAs resulting from alternative splicing could explain the existence of the multiple forms of tropoelastin observed electrophoretically in several species. Different kinds of splicing patterns could occur in human populations and may contribute to aging and pathological situations in the cardiovascular and pulmonary systems.
Tissue and cell studies of the growth plate in the chondrodysplasias
Authors: Horton William A. , Campbell Diana , Machado Mirta A. , Aulthouse Amy L. , Ahmed Saira , Ellard Jeffrey T. 
Published: June 2005

AbstractAs the morphologic expression of the chondrocytic differentiation pathway responsible for bone development and growth, the growth plate has been investigated extensively in the chondrodysplasias. Unique morphologic abnormalities identified in many disorders have provided insight into pathogenetic mechanisms and have been useful diagnostically and nosologically. Biochemical studies have detected evidence of type II collagen defects in patients having disorders in the achondrogenesis type II‐spondyloepiphyseal dysplasias (SED) congenita family of chondrodysplasias. Most promising may be the cell culture systems now being developed for human chondrocytes. Preliminary results suggest that they will allow the cellular and molecular biology of the dysplastic growth plate to be directly analyzed.