bluuebunny/crossref_metadata_2025_split huggingface dataset:
The HLAB* 18,BF* F1 in haplotype in type 1 diabetes
Authors: Walsh Linda J. , Cox Diane Wilson , Ehrlich Robert M. , Opitz John M. 
Published: June 2005

AbstractWe have investigated the properdin factor B (BF) locus as a possible marker for Type 1 diabetes. The frequencies of the four BF alleles were determined among 70 Type 1 diabetics with onset before age 18 years. The frequency of BF F1 among the diabetics was increased compared with 206 controls (15.7 vs 3.4%). The relative risk (RR) associated with BF F1 was 5.30. The suggestion that BF F1 is most strongly associated with onset of diabetes under 10 years of age was not supported. HLAB 18 was increased (RR = 4.91) and B 7 was decreased in frequency (RR = 0.41) among the 62 diabetics tested compared with 238 controls. An association was observed between HLAB 18 and BF F1 among the diabetics. A study of 12 families in which BF*F1 was segregating suggested that BF*F1 and HLAB*18 are components of a haplotype associated with Type 1 diabetes in this population and that both haplotypes of an affected parent may contribute to the development of Type 1 diabetes.
The conditions manifesting taurodontism
Authors: Jorgenson Ronald J. 
Published: June 2005

AbstractTaurodontism is a trait that has captured the interests of evolutionists and clinical geneticists. This paper reviews the reported cases of taurodontism as an isolated trait and as a component of malformation syndromes. Because of the nature of the syndromes with which it is associated and its frequency in the general population, it is concluded that taurodontism is the result of an ectodermal defect and may be useful as an indicator of development instability.
Duplication (5p13→pter): Prenatal diagnosis and review of the literature
Authors: Khodr Gabriel S. , Cadena Gary , Le Kim Loan , Kagan‐Hallet Kathleen S. 
Published: June 2005

AbstractWe describe a patient with a reciprocal translocation t(5,13) and her three offspring. The chromosome anomaly was ascertained after the birth of her first child, who had the cri‐du‐chat syndrome. Amniocentesis demonstrated the presence of a dup(5p). The anomalies affecting that fetus are described and compared with the reported phenotypes of dup(5p). The extent of clinical findings in the reported cases depends on the length of the duplicated portion. The larger the duplication (p11→pter), the more pronounced are the clinical signs. Physical signs are nearly absent when 5p14→ter is involved. Also, translocations affecting chromosome 5 have an increased abnormal outcome when compared to D/D Robertsonian translocations. This is the first instance of antenatal diagnosis of trisomy 5p.
A maximum likelihood test of the two locus model for coeliac disease
Authors: Greenberg David A. , Lange Kenneth L. , Opitz John M. 
Published: June 2005

AbstractA segregation analysis of two‐locus inheritance based on a maximum likelihood test is developed and applied to coeliac disease. The results clearly reject a dominant‐recessive mode of inheritance, but do not reject a double recessive model. In addition, analysis of the available affected sib pair HLA data are shown to be inconsistent with simple (single‐locus) dominant or recessive models with environ‐mentally‐caused reduced penetrance.
3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring
Authors: Abeliovich Dvorah , Yagupsky Pablo , Bashan Nava , Opitz John M. 
Published: June 2005

AbstractWe describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndrome and coloboma of the iris O.U.
Brief cytogenetic case report: A 4.5‐year‐old girl with deletion 4q syndrome — de novo, 46,XX, del(4) (pter→q31:)
Authors: Young Robert S. , Palmer Catherine G. , Bender Harvey A. , Weaver David D. , Hodes M. E. , Opitz John M. 
Published: June 2005

AbstractA 3.5‐year‐old white girl had growth and mental retardation of prenatal origin, unusual facial appearance, cleft palate, abnormal sternum, absence or hypoplasia of some digits, diaphragmatic hernia, ventricular septal defect, and rib and vertebral anomalies. Her karyotype was 46,XX,del(4)(pter→q31:).
Peyronie's disease: A newly recognized autosomal‐dominant trait
Authors: Bias Wilma B. , Nyberg Leroy M. , Hochberg Marc C. , Walsh Patrick C. , Opitz John M. 
Published: June 2005

AbstractPeyronie's disease, a connective tissue disorder of unknown cause, is characterized by the formation of thickened fibrous plaques on the dorsum of the penis. It often occurs simultaneously with other fibrotic changes, most notably Dupuytren's contracture of the hands or feet. There are no previous reports suggesting inheritance of this syndrome; however, Willscher et al reported an association between Peyronie's disease and antigens of the HLA‐B7 cross‐reacting group.Family studies were undertaken when three patients reported similarly affected first‐degree relatives. One kindred showed father‐to‐son transmission of Peyronie's disease with Dupuytren's contracture in three generations. Pedigree analysis of the three families suggests that Peyronie's syndrome is a male‐limited, automosal‐dominant trait. Antigens of the HLA‐B7 cross‐reacting group occurred in all three kindreds; however, the data ruled out close linkage of the disease and HLA.
Lymphocyte capping in limb‐girdle muscular dystrophy: Patients and carriers in an amish isolate
Authors: Bader Patricia I. , Bender Cynthia J. , Creason Marilyn T. , Conn Patricia S. , Townsend Douglas W. 
Published: June 2005

AbstractWe observed a decreased proportion of capped lymphocytes using polyvalent immunoglobulin and concanavalin‐A as ligands in limb‐girdle muscular dystrophy patients, obligate carriers, and individuals who are at‐risk for being limb‐girdle muscular dystrophy carriers. Using the proportion of capped cells as a parameter, we found there was overlap between the carrier and control range. However, we were able to estimate the risk of being a carrier in the Amish who have an increased prevalence of the limb‐girdle muscular dystrophy gene.
An anthropometric study of girls with the Ullrich‐Turner syndrome
Authors: Ikeda Yukie , Higurashi Makoto , Egi Shinzo , Ohzeki Norihiko , Hoshina Hiroki 
Published: June 2005

AbstractAnthropometric measurements were made on 11 Japanese girls with Ullrich‐Turner syndrome (UTS) from 8 months to 14 years. Height, lower limb length, and upper limb length of the UTS patients was less than that of normal control girls. Conversely, chest circumference, transverse chest diameter, and chest depth of UTS girls was well developed and equal to that of the control girls. Measurement results of head (head circumference, head length, and head breadth) and face (bi‐zygomatic breadth, internal bi‐ocular breadth and morphological face height) of the UTS patients were similar to those of normal girls. Bi‐acromial breadth and bi‐iliac diameter in the UTS were normal.
Familial occurrence of hemifacial microsomia with radial limb defects
Authors: Moeschler John , Clarren Sterling K. , Opitz John M. 
Published: June 2005

AbstractUsually hemifacial microsomia is an isolated malformation complex; however, it may be associated with other malformations as in Goldenhar syndrome. This report describes three patients with hemifacial microsomia and radial limb deficiency. This may represent a specific autosomal‐dominant condition.
Genetic study of a family with two members with weber christian disease (panniculitis) and alpha 1 antitrypsin deficiency
Authors: Clark Peggy , Breit S. N. , Dawkins R. L. , Penny R. , Opitz John M. 
Published: June 2005

AbstractAlpha 1 antitrypsin phenotypes and serum levels are presented for a family in which two brothers have Weber Christian disease and α1 antitrypsin (PI) Z phenotypes. Clinical histories are described for these two men. A younger brother has the PI Z phenotype but does not have the disease, indicating that additional genetic and/or environmental factors contribute to the pathogenesis of Weber Christian disease. However, the two cases described provide additional evidence for a relationship between α 1 antitrypsin deficiency and the development of symptoms.
An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema
Authors: Schmitt Edward , Gillenwater Jay Y. , Kelly Thaddeus E. , Opitz John M. 
Published: June 2005

AbstractWe describe a family in which eight persons (three males, five females) in three generations had a syndrome of bilateral and strikingly symmetrical triphalangeal thumbs and radial hypoplasia. The affected males also had a first‐degree hypospadias and all affected family members had an anterior maxillary diastema. The syndrome was inherited in an autosomal dominant fashion.
H‐Y antigen expression in patients with X‐autosomal translocations and gonadal dysgenesis
Authors: Haseltine Florence P. , Lynch Vincent A. , Van Dyke Daniel L. , Breg W. Roy , Francke Uta , Opitz John M. 
Published: June 2005

AbstractCells from three patients with early gonadal failure and a balanced reciprocal translocation involving the long arm of the X chromosome and an autosome were studied. Fibroblasts from a patient with a similar balanced reciprocal translocation but normal reproductive capabilities were also studied. Two of the four patients were found to have serologically detectable H‐Y antigen on their cells. Since H‐Y antigen has been found on the cells of other patients with X chromosome abnormalities but without a Y chromosome, it is thought that the X chromosome plays a role in the regulation of H‐Y antigen expression. This study suggests that the long arm of the X chromosome may be involved but the location of a regulatory gene cannot be identified in these studies. These cases do not permit us to implicate H‐Y antigen as a cause of gonadal dysgenesis and early gonadal failure in females who have structurally abnormal X chromosomes.
Pyruvate‐kinase (PK) and creatine‐kinase (CK) in normal pregnancy and its implication in genetic counseling of duchenne muscular dystrophy (DMD)
Authors: Zatz Mayana , Karp L. E. , Rogatko A. , Opitz John M. 
Published: June 2005

AbstractThe activities of pyruvate‐kinase (PK) and creatine‐kinase (CK) were measured in 50 normal pregnant women in both serum and amniotic fluid. Serum PK activity was found to be significantly higher in pregnant than in nonpregnant women, while serum CK did not differ significantly between the two population samples. In amniotic fluid, very little or no PK or CK activity was found. However, the mean PK activity in amniotic fluid obtained from women carrying male fetuses was significantly higher than in those carrying female fetuses. At the present time, it is concluded that if a woman at risk for having a son with Duchenne dystrophy is seeking genetic counseling when already pregnant her serum PK or CK should be compared with that of normal female pregnant controls. It is also suggested that determination of pyruvate‐kinase in fetal blood might be used in addition to CK for prenatal diagnosis of Duchenne muscular dystrophy.
Familial omphalocele: Analysis of risk factors and case report
Authors: Diliberti John H. , Opitz John M. 
Published: June 2005

AbstractThis is a report of a family with recurrence of omphalocele and apparent autosomal dominant transmission of abdominal wall hernias. Reported cases of familial omphalocele are reviewed and analyzed for risk factors. Familial cases are rarely associated with structural anomalies outside the gastrointestinal tract but often demonstrate vertical transmission that suggests that in certain families omphalocele is due to an autosomal dominant mutation.
Improved detection of Duchenne muscular dystrophy heterozygotes using discriminant analysis of creatine kinase levels
Authors: Muir W. A. , Knoke J. , Martin A. , Vignos P. , McErlean A. , Opitz John M. 
Published: June 2005

AbstractWe have assessed the sensitivity and specificity of tests to detect carriers of Duchenne muscular dystrophy by use of three serum enzymes (creatine kinase, pyruvate kinase, and aldolase) and discriminant analysis in 21 obligate heterozygotes and 28 normal controls. We found no significant age effects on enzyme levels. Each enzyme level considered separately was significantly higher in heterozygotes. Use of logs improved discrimination, and log CK was sufficient by itself as a discriminant (that is, addition of other enzymes did not significantly improve discrimination). We present procedures to generate posteriori probabilities for genetic counselling that incorporate prior probabilities and enzyme levels. Our results show both improved sensitivity (90%) and specificity (86%).
A new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance
Authors: Hall Bryan D. , Delorimier Alfred , Foster L. H. , Opitz John M. 
Published: June 2005

AbstractTwo unrelated children (one male, the other female) had unusual craniofacial anomalies consisting of hemangiomatous branchial clefts, lip pseudoclefts, and identical unusual facial appearance. One also had unilateral microphthalmia and both had congenital nasolacrimal duct obstruction. Two similar, sporadic cases from the literature were also identified. These four cases form the basis of a new, distinctly recognizable pattern of malformation.
CNS malformations in the kraków region. I. Birth prevalence and seasonal incidence during 1979–1981
Authors: Pietrzyk Jacek J. , Grochowski Jan , Kańska Barbara , Opitz John M. 
Published: June 2005

AbstractThe birth prevalence of CNS malformations in the region of Krakow from 1979 to 1981 was determined to be 1.26/1000 from records of all live‐ and still‐birth deliveries. The frequency of anencephaly was 0.23/1,000; spina bifida and encephalocele, 0.70/1000; isolated hydrocephaly, 0.26/1,000; and other CNS anomalies, 0.06/1,000. The observed rates are below the median European level.Female preponderance was found among the probands with anencephaly, encephalomeningocele, and myelomeningocele.Cytogenetic examination of 35 newborns with CNS malformations documented normal karyotypes in all neonates.The analysis of seasonal distribution of proband's birthdate and of date of mother's last menstrual period showed no significant seasonal trend.
Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father
Authors: Pai G. S. , Rogers J. Felix , Sommer Annemarie , Opitz John M. 
Published: June 2005

AbstractWe report two sisters with a deficiency of band 2q32 that resulted from meiotic crossover events in their father, who is a balanced, intrachromosomal insertional translocation heterozygote. This three‐break rearrangement involving a single chromosome is among the rarest class of human structural chromosome abnormalities. A review confirms the theoretically predicted high risk of unbalanced progeny for such translocation heterozygotes. Fertility of carriers seems to be unimpaired in either sex. Available information is insufficient to define the effect of insertional translocation on homologue pairing, crossover frequency, and other meiotic phenomena.
Down syndrome—a disruption of homeostasis
Authors: Shapiro Burton L. , Hermann J. , Opitz J. M. 
Published: June 2005

AbstractA major question in human genetics concerns the relationship between the extra chromosome material in the Down syndrome (DS) and its effects. It is suggested here that a generalized disruption of evolved genetic balance in cells of affected individuals leads to decreased developmental and physiological buffering against genetic and environmental forces. Examples of consequences in DS of this model of disruption of homeostasis are presented: (i) increased variance for metric traits, (ii) amplified instability of developmental pathways, (iii) reduced precision of physiological homeostatic controls, and (iv) generalized increased morbidity. Evolution has selected for interacting systems. When this evolved balance is disrupted, as in autosomal aneuploidy, the organism is generally disrupted. The model emphasizes the role of environment in producing much of the DS phenotype. Traits less buffered than others in the general population are the ones most disturbed in DS and account for much of the DS phenotype.
Prenatal diagnosis of perinatally lethal osteogenesis imperfecta
Authors: Elejalde B. Rafael , de Elejalde Maria Mercedes , Opitz John M. 
Published: June 2005

AbstractPrenatal diagnosis of osteogenesis imperfecta was achieved at 17 weeks of gestation using ultrasound through recognition of low echogenic properties of all the bones, abnormally shaped skull, bell‐shaped rib cage, distally thinned ribs, short and deformed long bones, wide metaphyses, and thin diaphyses. Severely limited abnormal movements, abnormal positioning of the lower limbs also were typical of the condition. The recognition of the signs reported in this paper will allow the identification of the condition in utero in the second trimester.
Cranial defects in the Goldenhar syndrome
Authors: Wilson Golder N. , Herrmann Jürgen , Opitz John M. 
Published: June 2005

AbstractFour patients are presented with the Goldenhar syndrome (GS) and cranial defects consisting of plagiocephaly, microcephaly, skull defects, or intracranial dermoid cysts. Twelve cases from the literature add hydrocephalus, encephalocele, and arhinencephaly to a growing list of brain anomalies in GS. As a group, these patients emphasize the variability of GS and the increased risk for developmental retardation with multiple, severe, or unusual manifestations. The temporal relation of proposed teratogenic events in GS provides an opportunity to reconstruct biological relationships within the 3–5‐week human embryo.
Hereditary lecithin‐cholesterol acyltransferase deficiency and bloom syndrome in the same individual
Authors: Shojania A. M. , McAlpine P. J. , Ray M. , Opitz John M. 
Published: June 2005

AbstractA couple who were first cousins had three children: an older son with Bloom syndrome (BLS) and homozygous lecithin‐cholesterol acyltransferase (LCAT) deficiency; the second child (a son) and the parents are LCAT deficiency heterozygotes; and the youngest child (a daughter), is homozygous for LCAT deficiency. The use of genetic markers gave no evidence of linkage of BLS and LCAT loci.
Chromosome heteromorphism analysis in cases of disputed paternity
Authors: Olson Susan B. , Magenis R. Ellen , Rowe Shirley I. , Lovrien Everett W. , Opitz John M. 
Published: June 2005

AbstractBlood test results, using standard procedures, failed to exclude the alleged father as the biological father of a child in a case of disputed paternity. Using 21 different systems, the probability of exclusion for the man was 98.19%, and the probability of paternity was only 93.90% with a paternity index of 15.48. Chromosome heteromorphisms of all three individuals were studied. By comparison of fluorescent markers of chromosomes 13, 14, 15, 21, and 22, the child was shown to inherit one homologue of each of these chromosomes from the mother, but none were like the heteromorphisms of the alleged father. This excluded him as the biological father.
Trichoodontoonychial dysplasia—a new meso‐ectodermal dysplasia
Authors: Pinheiro Marta , Freire‐Maia Newton , Roth Alcyone J. , Opitz John M. 
Published: June 2005

AbstractWe describe a hitherto apparently undescribed ectodermal dysplasia in four siblings. The condition combines severe hypotrichosis, hypoplasia of enamel leading to secondary anodontia, dystrophic nails, supernumerary nipples, nevus pigmentosus, bone deficiency of the fronto‐parietal region, and other anomalies. This condition is probably due to an autosomal‐recessive gene.
Cebocephaly‐holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)]
Authors: Schwartz Stuart , Meekins Joann , Panny Susan R. , Sun Chen‐Chih J. , Cohen Maimon M. , Opitz John M. 
Published: June 2005

AbstractCytogenetic study of a day‐old infant showed a terminal del(7q): 46,XX,del(7)(pter→q32:). This infant had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q – syndrome, in which patients usually have growth and mental retardation with few facial abnormalities.
Self‐limited autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia in a Kirghizian family
Authors: Kozlova S. I. , Altshuler B. A. , Kravchenko V. L. , Opitz John M. 
Published: June 2005

AbstractWe report on a previously apparently undescribed Puretic syndrome‐like self‐limited autosomal recessive disorder with onset in infancy and running its course by 11 yr in five sibs in a Kirghizian family with recurrent skin ulceration, arthralgias, fever, fistulous osteolysis around joints, oligodontia, nail dystrophy and keratitis with visual impairment or blindess in three of the five affected sibs. Affected hands and feet acquire a pseudoacromegalic appearance; fingers become clawed; involvement of growth plates around knees may lead to asymmetrical shortness with secondary scoliosis.Slow but normal healing during and after the course of the disease leaves severe cicatrization and chronic arthroses. No other organ system is involved, intellect is normal, and health and reproductive capacity are otherwise unimpaired. We propose the name Kirghizian dermatoosteolysis for this condition.
Biochemical defect of non‐keratan‐sulfate‐excreting Morquio syndrome
Authors: Fujimoto Atsuko , Horwitz Allen L. , Opitz John M. 
Published: June 2005

AbstractTwo children of second‐cousin parents were found to have a very mild form of Morquio syndrome. The 14‐year‐old boy was 147 cm tall and had fine corneal deposits, a broad chest, dislocated hips, and flat feet. His 7‐year‐old sister had a broad chest but otherwise normal physical development. An abnormal lumbar spine was seen in radiographs of both children. Analysis of the urine from the affected children showed levels of acid mucopolysaccharides (AMPS) up to twice as high as that found in normal urine, but no evidence of keratosulfaturia. Most urinary AMPS was chondroitin‐6‐sulfate. Multiple assays of N‐acetylgalactos‐amine‐6‐sulfate (GalNAc‐6‐SO4) sulfatase in leukocytes and cultured skin fibroblasts showed deficiency of this enzyme in the range found in the classical form of Morquio (Morquio A) syndrome. This report identifies an enzymatic defect in one form of non‐keratan‐sulfate‐excreting Morquio (NKSE Morquio) syndrome and confirms the absence of keratosulfaturia in this mild form of Morquio disease.
Pedigree discriminant analysis: A method to identify monogenic segregation
Authors: Zlotnik L. H. , Elston R. C. , Namboodiri K. K. 
Published: June 2005

AbstractWe describe a method for obtaining a linear discriminant function to identify monogenic segregation in multivariate pedigree data. It differs from Fisher's linear discriminant function in that it does not assume that the genotype of each individual in the pedigree already known. The method consists of finding that linear function of the variables that maximizes the likelihood of a set of pedigree data, under the hypothesis of single gene segregation, subject to the constraint that the total sample variance of the function remains constant. To simplify the computation the variables are first transformed to their standardized principal components. Reanalysis of a set of pedigree data suggests that age and powers of age should be considered as extra variables from which the principal components are obtained, and virtually all of the variance should be accounted for by the principal components used to obtain the discriminant function.