bluuebunny/crossref_metadata_2025_split huggingface dataset:
Attitudes regarding utilization of artificial insemination by donor in Huntington disease
Authors: McCormack Michael K. , Leiblum Sandra , Lazzarini Alice , Karp Laurence E. , Optiz John 
Published: June 2005

AbstractWe report on a study of attitudes toward artificial insemination by donor (AID) of persons at risk for Huntington disease (HD). The subjects of the study were 91 at risk persons and 68 matched controls. Both groups were divided by sex and age (45 yr ⩽ vs ≥ 46 yr). Demographic data included age, occupation, marital status, religion, education, ethnic background, and family size. We recorded (1) attitudes toward reproduction, (2) nature of contact with affected family member(s), (3) effects of HD on family planning, (4) attitudes toward AID, and (5) concern about donor selection criteria. Results suggest that (1) men and women differ in several ways with regard to their views about AID, and (2) that more vigorous educational programs might increase utilization of AID for the prevention of not only HD, but other human genetic diseases as well.
Deletion mapping of polymorphic loci by apparent parental exclusion
Authors: Daiger Stephen P. , Chakravarti Aravinda , Opitz John M. 
Published: June 2005

AbstractDeletion of a chromosome region containing a polymorphic marker may result in apparent parental exclusion at that locus. We present a general method for calculating the probability that deletion at a specific locus would have such an effect. For many autosomal loci this probability is substantial, justifying attempts at deletion mapping in most cases. This method may be especially valuable in assigning DNA restriction fragment polymorphisms to chromosome regions.
Inheritance of immunoglobulin E: Genetic model fitting
Authors: Hasstedt Sandra J. , Meyers Deborah A. , Marsh David G. , Opitz John M. 
Published: June 2005

AbstractTotal serum immunoglobulin E (IgE) concentration was measured on 316 members of five pedigrees selected through breast cancer probands. Sex‐ and age‐adjusted natural logarithm‐transformed IgE level was not found to differ between individuals with breast cancer or with cancer of any site and other relatives. Likelihoods of the polygenic and of one‐locus, two‐allele major gene and mixed models were computed. The analysis provided evidence for the presence of a polygenic component in the determination of IgE; it did not show evidence of a major gene effect.
Duplication (17p) in a child with an isodicentric (17p) chromosome
Authors: Mascarello J. T. , Jones M. C. , Hoyme H. E. , Freebury M. M. , Opitz John M. 
Published: June 2005

AbstractWe present a child with multiple structural defects due to duplication of the short arm and a small portion of the long arm of chromosome 17. Three children with similar cytogenetic abnormalities have been reported previously. The karyotype contained an isodicentric chromosome derived from chromosome 17. A clue to the mechanism that produced the isochromosome was retained in the genome in the form of a part of the chromosome 17 long arm which was attached to the short arm of a chromosome 10.
Deficiency of lysosomal hydrolases in apparently healthy individuals
Authors: Zlotogora Joel , Bach Gideon 
Published: June 2005

AbstractThe deficiency of a lysosomal hydrolase usually results in the storage of its substrate(s) leading to various clinical abnormalities, typical for each deficiency. However, in certain lysosomal hydrolases, an apparent deficiency was noted which does not result in the classical clinical picture. This condition was described for aryl sulfatase A, β‐hexosaminidase, α‐galactosidase, and galactocerebrosi‐dase, where apparently healthy individuals showed in vitro very low hydrolase activity, usually indistinguishable from the affected patients. The deficiency was usually observed with both the synthetic and natural substrates. In the case of aryl sulfatase A deficiency, no clinical abnormalities were noted in these individuals, and cultured cells obtained from them were able to catabolize normally the natural substrate. Such cases are therefore referred as pseudodeficient. In other cases, such as in β‐hexosaminidase‐A deficiency, mild manifestations of the corresponding disorder were reported with subsequent intralysosomal storage of GM2 gan‐glioside. Our analysis indicates that most of these cases represent a compound heterozygote for the deficient allele and another allele coding for an in vitro low enzyme activity (pseudodeficiency). A complete biochemical explanation for this phenomena is not yet established. The importance of understanding this condition(s) for proper genetic counseling is discussed.
Differential diagnosis of Nager acrofacial dysostosis syndrome: Report of four patients with Nager syndrome and discussion of other related syndromes
Authors: Halal Fahed , Herrmann Jürgen , Pallister Philip D. , Opitz John M. , Desgranges Marie‐Françoise , Grenier Gilles , Fraser F. Clarke 
Published: June 2005

AbstractWe report four patients with Nager acrofacial dysostosis (AFD) syndrome and review all previous cases. This leads to an extended characterization of the Nager syndrome—eg, description of lower limb defects—and also to a discussion of the differential diagnosis which includes AFD postaxial defect syndrome, Fontaine syndrome, distal 2q duplication syndrome, hemifacial microsomia/Goldenhar radial defect syndrome, and some others.
Odontoonychodermal dysplasia: A previously apparently undescribed ectodermal dysplasia
Authors: Fadhil Mahmoud , Ghabra Tarek A. , Deeb Mary , Der Kaloustian Vazken M. , Opitz John M. 
Published: June 2005

AbstractSeven affected individuals in a total of 24 belonging to three inbred Lebanese sibships are presented as having a previously apparently undescribed pure ectodermal dysplasia. For this condition, probably owing to the homozygous state of an autosomal recessive gene, we suggest the name trichoodontodermal dysplasia.
Variability in the Smith‐Lemli‐Opitz syndrome: Overlap with the meckel syndrome
Authors: Lowry R. B. , Opitz John M. 
Published: June 2005

AbstractThe syndromes of Smith‐Lemli‐Opitz (RSH) and of Meckel are usually clinically distinct but have many overlapping manifestations. In rare instances it may be difficult to distinguish them, especially if an autopsy is not done. Attention to detail is essential for accurate delineation. Two other syndromes, the C and Hydrolethalus, should be considered in the differential diagnosis.
Short rib‐polydactyly syndrome, Majewski type
Authors: Walley Virginia M. , Coates Charles F. , Gilbert Joseph J. , Valentine G. Howard , Davies Eleanor M. , Herrmann Jürgen 
Published: June 2005

AbstractWe describe a baby with external and internal anomalies of the Majewski form of the short rib‐polydactyly (SRP) syndromes. Previously unreported abnormal vertebral bodies, delayed ossification of the sternum and fibulae, and a diencephalic hamartoma are noted. These abnormalities and minimal histologic abnormality at the chondro‐osseous junction suggest that this syndrome may be heterogenous or more variable than previously known.
Fryns syndrome: A new variable multiple congenital anomaly (MCA) syndrome
Authors: Lubinsky Mark , Severn Charles , Rapoport Joseph M. , Opitz John M. 
Published: June 2005

AbstractWe report a brother and sister who died neonatally with a distinctive but variable multiple congenital anomaly (MCA) syndrome. Anomalies in both included similar facial changes, cleft palate, distal digital hypoplasia, lung hypoplasia, and urogenital abnormalities. They were discordant for cleft lip, diaphragmatic hernia, and Dandy‐Walker anomaly. These sibs resemble three recently reported stillborn children and support the existence of a “new” autosomal recessive MCA syndrome with variable expressivity.
Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: A new syndrome?
Authors: Fraser F. C. , Aymé S. , Halal F. , Sproule J. , Opitz John M. 
Published: June 2005

AbstractWe report two families in which propositi had severe bilateral sensorineural hearing loss, a preauricular pit or tag, and duplication of the ureters or bifid renal pelvices. Other relatives had one or more of these anomalies in a pattern suggesting autosomal dominant inheritance with reduced penetrance and variable expressivity. We suggest the term “branchio‐oto‐ureteral syndrome” to designate this condition.
The search for heterogeneity in insulin‐dependent diabetes mellitus: Evidence for familial and nonfamilial forms
Authors: Greenberg David A. , Anderson Carol E. , Qpitz John M. 
Published: June 2005

AbstractUsing five different published sets of data, we looked at the distribution of HLA‐DR genotypes among diabetic probands. It was possible to reject dominant inheritance at the HLA‐associated locus, but some of the data were compatible with recessive inheritance while some were not. An attempt to reconcile the conflicting data by proposing a three‐allele model apparently failed. It proved possible to resolve some of the conflicting data by proposing that simplex families represent primarily a recessive form of insulin dependent diabetes mellitus (IDDM) while multiplex families represent primarily two other subforms: one showing three‐allele inheritance and one not. We also propose that the HLA locus involved in IDDM mediates the effect of an environmental agent on a second disease locus.
Specific terminal DNA replication sequence of X chromosomes in different tissues of a live‐born triploid infant
Authors: Yu C. W. , Chen H. , Fowler M. , Opitz John M. 
Published: June 2005

AbstractUsing the thymidine pulse method, DNA replication kinetics were studied on cells derived from cartilage, gonad, lymphocytes, and skin of a live‐born triploid (69,XXY) infant with typical clinical findings. Replication studies showed that 3% of the lymphocytes had one early and one late replicating X, and 97% of the lymphocytes, and cartilage, gonad, and skin cells had two early replicating X's. Asynchronous DNA replication between the two early replicating. X's was observed in all tissues (range 25–40%). The predominant terminal replication sequence of X chromosomes from chondrocytes, gonad, and skin fibroblast differed from that of the lymphocytes. Thus, a tissue‐specific DNA replication pattern of the early‐replicating X chromosome may be present. In every tissue, the last band to complete DNA replication was Xq21. Polymorphisms of metaphase chromosomes of parents and the patient were studied by Q‐banding. The possible origin of the extra haploid set of chromosomes is discussed.
Extensions to pedigree analysis. IV. Covariance components models for multivariate traits
Authors: Lange Kenneth , Boehnke Michael , Opitz John M. 
Published: June 2005

AbstractOften more than one quantitative trait is measured on each person in a set of pedigrees. The present paper suggests a class of covariance components models that will allow investigators to explore the genetic and environmental relationships between two quantitative traits. The theoretical framework for the models is given and criticized. We also discuss specific maximum likelihood methods for parameter estimation and hypothesis testing.
Nonimmune fetal hydrops and down syndrome
Authors: Fujimoto Atsuko , Broom Diane L. , Shinno Nancy W. , Wilson Miriam G. , Opitz John M. 
Published: June 2005

AbstractSix infants with nonimmune fetal hydrops (NIFH) were found to have trisomy 21 (Down syndrome). A cardiac malformation was present in three of these infants. The manifestations of Down syndrome were obscured by the generalized edema at birth. The association of Down syndrome and NIFH emphasizes the need for chromosome analysis in the workup of infants or fetuses with NIFH.
The syndrome of Yunis and Varón—report of a further case
Authors: Hughes H. E. , Partington M. W. 
Published: June 2005

AbstractWe describe a boy with short stature, mental retardation, microcephaly, micrognathia, sparse hair, hypoplastic fingers and thumbs, distal aphalangia of the toes, and a hypoplastic clavicle. The pattern of anomalies corresponds closely to that found in five other children by Yunis and Varón.
Craniotelencephalic dysplasia in sisters: Further delineation of a possible syndrome
Authors: Hughes H. E. , Harwood‐Nash D. C. , Becker L. E. , Opitz John M. 
Published: June 2005

AbstractWe describe two sisters with a complex of anomalies involving the cranium and brain. The changes in the former are consistent with those previously described as craniotelencephalic dysplasia and those in the latter indicate primary developmental abnormalities of the central nervous system including septo‐optic dysplasia, absent olfactory nerves, agenesis of the corpus callosum, and lissencephaly. Per se, these cerebral malformations are causally heterogeneous, but their occurrence in association with craniotelencephalic dysplasia suggests that this combination is a distinct, probably autosomal recessive, syndrome.
An X;9 translocation, primary amenorrhea, and hypothalamic dysfunction
Authors: Gardner H. A. , McConnon J. K. , Mackenzie M. A. , Opitz John M. 
Published: June 2005

AbstractA white girl presented at age 16 yr with delayed puberty and primary amenorrhea. She had 46 chromosomes with a de novo reciprocal X;9 translocation. The normal X chromosome was found to be heterochromatic, thus preserving the function of the translocation portion of the 9. Her total estrogen and serum estradiol levels were low and her serum follicle‐stimulating hormone (FSH) and luteinizing hormone (LH) levels were at the lower end of the normal adult range. She had a reasonably good FSH and LH response to GnRH, but an inadequate response to 100 mg of clomiphene daily for 1 wk. This would suggest that the abnormality of function is probably hypothalamic, a hitherto unreported association.De novo translocations between X chromosomes and autosomes are rare and none identical to this case has been described. The breakpoint of the X chromosome was at p22, well outside the “critical region” for female reproductive function. It seems probable that her chromosome abnormality is responsible for her clinical state.
Familial agnathia‐holoprosencephaly
Authors: Pauli Richard M. , Pettersen James C. , Arya Sunita , Gilbert Enid F. , Opitz John M. 
Published: June 2005

AbstractTwo stillborn sisters had characteristics of both agnathia and holoprosencephaly. Familial occurrence implies that agnathia‐holoprosencephaly may be determined by a single recessive gene, something to be taken into account when counseling such families. Evidence from human experience and various animal models suggests that agnathia‐holoprosencephaly represents a causally heterogeneous single developmental field defect. Anatomical studies of these two stillborn sisters support the view that they shared a developmental field defect which affected structures in the face, cranial cavity, and upper neck. The pathogenesis of these variably expressed defects probably relates to defects in neural crest cells of cranial origin and/or to underlying mesodermal support elements of these cells.
The diagnosis and frequency of X‐linked conditions in a cohort of moderately retarded males with affected brothers
Authors: Fishburn Jane , Turner Gillian , Daniel Art , Brookwell Ross , Opitz John M. 
Published: June 2005

AbstractAn epidemiological study was carried out on the group of moderately retarded brothers (IQ, 30–55) identified by Turner and Turner [1974]. Of the original 58 sets of brothers, 54 sets (now 17 to 32 years old) were traced; another four sets (missed in the earlier survey) were added. Forty‐five of the 58 pairs were diagnosed as having nonspecific X‐linked mental retardation (MR) giving an overall frequency of 5.57 moderately retarded males/10,000 male births. In 12 of the 45 families, affected males had the fragile(X) and macroorchidism; six had macroorchidism alone, giving a frequency of 2.8 moderately retarded males with X‐linked MR and macroorchidism ± the fragile(X) per 10,000 males. Corresponding heterozygote frequencies are 7.34 and 3.65/10,000 females respectively. A new subgrouping of nonspecific X‐linked mental retardation is described in six families: X‐linked MR, macroorchidism without the fragile(X). Three other X‐linked conditions were identified: in one family, the Coffin‐Lowry syndrome, in another, Duchenne muscular dystrophy, and in two families X‐linked MR and muscle atrophy. Half (56%) of the obligatory carriers of fra(X)‐MR in this study were dull to mildly retarded. The mildly retarded heterozygotes had a significantly higher percentage of fra(X) expressing lymphocytes as compared to the intellectually normal heterozygotes. When the three types of nonspecific X‐linked MR for which population frequencies were calculated were considered together, half of the obligatory carriers (46%) were dull or mildly retarded, thus confirming that this condition is a significant cause of mild intellectual handicap in females.
Autosomal dominant inheritance of the Aarskog syndrome
Authors: Grier Robert E. , Farrington Frank H. , Kendig Robert , Mamunes Peter , Opitz John M. 
Published: June 2005

AbstractIndividuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum. Pedigrees have consistently suggested X‐linked inheritance, although the possibility of autosomal dominant inheritance was not excluded. We present a father and two sons affected with the Aarskog syndrome. Thus, the Aarskog phenotype either is genetically heterogeneous or a sex‐influenced autosomal dominant trait as shown by the deficiency of affected females. An ascertainment bias for males could be owing to the shawl scrotum. We have reviewed the literature and tabulated findings in 82 previously reported cases.
Inheritance of Bartter syndrome
Authors: Pereira R. Rodrigues , van Wersch J. , Opitz John M. 
Published: June 2005

AbstractThe Bartter syndrome is regarded as an autosomal recessive trait because of sib occurrence, equal sex ratio, and normal parents. Recently, obligatory carriers were shown to have the same pattern of platelet aggregation inhibition as their affected children, possibly a reflection of altered prostaglandin action. We investigated eight patients, and their parents and sibs, and found that all persons included in the study had impaired thrombocyte aggregation. These aggregation studies support the hypothesis that the Bartter syndrome is an autosomal recessive trait.
Intracranial aneurysms: A report of a large pedigree
Authors: Halal Fahed , Mohr Gérard , Toussi Tahmouresse , Martinez S. Napoléon 
Published: June 2005

AbstractWe report on the occurrence of intracranial aneurysms in several individuals of a large French‐Canadian family. Recurrence risk from 22 previously reported families (each with at least two affected first degree relatives) and the present family does not allow any firm conclusion about the mode of inheritance of the trait.
Paternity testing: I. Calculation of paternity indexes
Authors: Kaiser L. , Seber G. A. F. , Opitz John M. 
Published: June 2005

AbstractAn algorithm, readily adaptable to microcomputers, is given for computing paternity indexes. A closed‐form expression based only on gene frequencies and phenotype structures is derived for the paternity index for a given mother/child/alleged father trio and any blood group system. This above work is applied to the problem of estimating gene frequencies from sample data.
Prenatal diagnosis in two pregnancies of an achondroplastic woman
Authors: Elejalde B. Rafael , de Elejalde Maria Mercedes , Hamilton Phillip R. , Lombardi Joseph M. , Opitz John M. 
Published: June 2005

AbstractWe present the results of the ultrasonographic examination of two successive pregnancies of an achondroplastic woman. The limb bones were measured and shown to be normal in length. Other pertinent literature reports are discussed.
The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm
Authors: Van Dyke Daniel L. , Miller Michael J. , Weiss Lester , Opitz John M. 
Published: June 2005

AbstractTandem repeats of chromosome material can arise as inverted or as direct duplications. Such duplications of the X chromosome are instructive regarding X‐linked genetic determinants of phenotype. We describe a 40‐year‐old woman with a direct duplication Xq13.3 to Xq27.2, short stature, gonadal dysgenesis, and secondary amenorrhea. Comparison of her phenotype with that of two other women with a direct duplication of part of Xq confirms the existence of statural determinants within the region X13 to Xq21, determinants of ovarian function within X22 to X27, and the X inactivation center within or proximal to band Xq13.3.In humans, direct duplications are more frequent than inverted, but both forms are rare. The mean age of parents is normal in subjects with direct duplications, but is advanced in subjects with inverted duplications. An inverted duplication can arise from a three‐break rearrangement that includes a U‐type exchange; a similar origin (two breaks and a U‐type exchange) and a parental age association can be postulated for dicentric inverted duplications including dicentric isochromosome X.
A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism
Authors: Johnson Virginia P. , McMillin J. Michael , Aceto Thomas , Bruins George , John M.  
Published: June 2005

AbstractWe describe a large, three generation kindred in which 16 individuals were affected with alopecia, hyposmia or anosmia, conductive deafness associated with protruding ears, microtia, and/or atresia of the external auditory canal, hypogonadotropic hypogonadism due to LH/FSH deficiency, and a greater than normal tendency to dental caries. Variable manifestations include mild facial asymmetry, mental retardation, congenital heart defect, and cleft palate. This seems to be a previously undescribed pleiotropic autosomal dominant trait with variable expressivity.The manifestations can be explained on the basis of involvement of the ectoderm and neuroectoderm of the first and second branchial arches, of Rathke's pouch, and of the diencephalon.
Part I. Amyoplasia: A common, sporadic condition with congenital contractures
Authors: Hall J. G. , Reed S. D. , Driscoll E. P. , Opitz John M. 
Published: June 2005

AbstractA specific congenital contracture (arthrogryposis) syndrome has been recognized in 135 out of 350 patients with various kinds of congenital contractures. This sporadic syndrome, designated amyoplasia is characterized by absence of limb muscles that are replaced by fibrous and fatty tissue. At birth there is characteristic positioning of the limbs with internal rotation at shoulders, extension at elbows, and flexion of the hands at the wrists. Severe equinovarus deformities of the feet are usually present. Contractures at knees and hips occur in a variety of positions. Typically, the face is round with a frontal midline capillary hemangioma and slightly small jaw. Intelligence is normal.Approximately 63% of our patients had involvement of four limbs (almost always symmetrically), 24% mainly of lower limbs, and 13% mainly upper limbs. Typically, no other malformations are present. However, minor anomalies are seen often, and include hypoplastic digits and hypoplasia of scrotum or labia, the umbilical cord may be wrapped about a limb at birth. In utero fetal activity is decreased and breech delivery is increased in amyoplasia. All cases were sporadic; identical twins are discordantly affected.