bluuebunny/crossref_metadata_2025_split huggingface dataset:
Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia
Authors: Horton William A. , Harris David J. , Collins Debra L. , Opitz John M. 
Published: June 2005

AbstractWe describe monozygotic twins with thanatophoric dysplasia who were discordant for the Kleeblattschädel anomaly, but were identical in all other respects, including the histologic appearance of the endochondral growth plate. The observation suggests that the skull anomaly represents a variable manifestation of thanatophoric dysplasia, and that its occurrence in an infant with this bone dysplasia should not alter the low recurrence risk generally given.
Autosomal dominant recurrent encephalopathy of childhood
Authors: Neuhäuser Gerhard , Eichner Jerrold M. , Opitz John M. , DeMyer W. , Guggenheim M.A. 
Published: June 2005

AbstractRecurrent encephalopathy affecting cerebellar and extrapyramidal structures was observed in five members of two families. The syndrome is characterized by sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech. Choreic and athetoid movements were present, and there was loss of deep tendon reflexes with presence of pathological reflexes. Onset of the disease was early in childhood. Attacks lasted for days to weeks; residual symptoms comprising speech impairment and incoordination were seen in some patients. Both sexes were affected. The pedigrees suggest autosomal dominant inheritance. Pathogenesis remains unexplained by the laboratory studies done; metabolic or immunological processes predisposed by genetic factors are suggested. Similar reports from the literature are discussed; no identical family could be found.
Cytogenetic differentiation of Fanconi anemia, “idiopathic” aplastic anemia, and Fanconi anemia heterozygotes
Authors: Cervenka Jaroslav , Hirsch Betsy A. , Opitz John M. 
Published: June 2005

AbstractWe have analyzed chromosome breaks in 8 patients with Fanconi anemia (FA), 42 with “idiopathic” aplastic anema (AA), 15 first‐degree relatives of FA patients, and 13 controls. Their lymphocytes were treated in culture with three concentrations of mitomycin‐C (MMC). A 60‐fold increase in breaks was observed in FA patients as compared to AA patients, regardless of severity of clinical signs. The MMC‐stress test was standardized to clearly differentiate FA from other pancytopenias in doubtful cases. Also, the effect of storage of MMC in solution was investigated. The data on SCEs of 12 subjects tested, 10 mo apart, showed an inverse relationship between length of storage of MMC and chromosome damage. The 10‐month‐old solution induced only one half as many SCEs as it induced at 4 months.Further, the usefulness and power of diepoxybutane (DEB) in detection of FA heterozygotes was investigated in 12 first‐degree relatives of patients with Fanconi anemia and 12 healthy controls. The mean number of chromosome breaks per mitosis by DEB stress in obligate heterozygotes was 0.08 in comparison to 0.06 in controls. Four of twelve control subjects showed proportions of breaks almost identical to or higher than those of FA heterozygotes, ie, 0.12, 0.10, 0.10, and 0.11 breaks per mitosis. The responses of healthy controls to DEB could be separated into two groups: one with mean chromosome breaks of 0.11 per mitosis, and a second with mean breaks of 0.04 per mitosis. Thus, it appears that heterozygote detection by DEB stress of cultured lymphocytes is not unequivocal.
Unusual combination of genetic defects in a Sicilian boy: Gγ Aγ δβ thalassemia, Gγ Aγ heterocellular HPFH, βº thalassemia, and albinism
Authors: Schilirò G. , Pavone L. , Romeo M. A. , Russo A. , Musumeci S. , Russo G. , Opitz John M. 
Published: June 2005

AbstractWe describe the clinical and hematological findings in a 5‐year‐old boy with Gγ Aγ δβ thalassemia, a Gγ Aγ heterocellular form of HPFH, βº thalassemia, and albinism. Clinically he manifested only the characteristics of β‐thalassemia trait and not the typical picture of doubly heterozygous β thal/δβ thal. The simultaneous presence of heterocellular HPFH improves γ chain synthesis, thus reducing the α chain excess. It is also possible that gene expression can be modified by the presence of other genetic anomalies.
The dynamics of quantifiable homeostasis I. The individual
Authors: Murphy Edmond A. , Trojak Joseph E. , Opitz John M. 
Published: June 2005

AbstractIn this field of enquiry, “homeostasis” is understood in the sense of Bernard, Cannon, and Wiener, that is, with the system of continuous adjustments, in a trait not inherently stable, to meet the challenges of the environment. It is shown that the clinical fitness of a trait may depend on factors other than the mean or the variance. In particular the broad pattern of variation of the phenotype may be of importance and hence the characteristics of the homeostatic mechanisms for the control of traits subject to variation: notably the homing value (the “setting” of the homeostat), and the strength with which the organism responds to departures from this value. These parameters are related, but perhaps only remotely, to the traditional notion of the value of a phenotype. In general, where the environmental value is variable, there exist circumstances in which the optimal control would be neither extremely tight nor extremely loose. For instance, anticipatory action on the part of the body may be vitiated by too tight a control. Some illustrations are given of genetic disorders in which there is a fault in the strength of control. While neither the pattern of inheritance nor the impact on the species is explored in detail, the broad implications are indicated. Compromise adjustments are explored where two or more traits are regulated through the same homeostatic device.
Maternal cell contamination of amniotic fluid cell cultures: Results of a U.S. nationwide survey
Authors: Benn Peter A. , Hsu Lillian Y. F. , Karp Laurence E. 
Published: June 2005

AbstractA nationwide survey has been carried out to establish the incidence and factors determining maternal cell contamination (MCC) of amniotic fluid cultures. One hundred sixty‐two cytogeneticists and medical geneticists were invited to participate, and data were collected from 71 laboratories, representing 91,131 amniocenteses. The incidence of recognized cases of MCC was 0.148%, of which 0.123% were recognized as an admixture of male and female cells, the latter often being present in multiple cultures. A further 0.025% of cases were ascertained as a result of unexpected pregnancy outcome. In many of these cases where misdiagnosis occurred, a less than optimal number of cells or cultures were analyzed. Since MCC would generally not be recognized when the fetal sex is female, the true incidence of MCC would be approximately twice these values.MCC incidence was 2½ times lower when the first few milliliters of amniotic fluid were not used for cell culture and appeared to be more common when wider gauge needles were used for the amniocentesis. Twenty‐six percent of MCC cases represented referrals for reasons other than advanced maternal age. Approximately 35% of all cases with MCC were those in which the amniotic fluid was bloody. Cultures with MCC appeared to show no unusual growth properties.It is concluded that the most likely source of MCC is from the outgrowth of maternal tissue removed by the needle. Specific recommendations for dealing with MCC are that 1) the first one or two milliliters of amniotic fluid are not used for cell culture, 2) at least 20 cells from two independent cultures are counted wherever possible, 3) parental polymorphisms are studied in cases where a 46,XX and 46,XY admixture is found, and 4) cases referred fo biochemical studies on cultured cells also receive cytogenetic analysis to help rule out the possibility of MCC.
Familial idiopathic gonadotropin deficiency: A hypothalamic form of hypogonadism
Authors: Toledo S. P. A. , Luthold W. , Mattar E. , Opitz John M. 
Published: June 2005

AbstractTo date, familial idiopathic gonadotropin deficiency (FIGD) has not been delineated as either a hypothalamic or a pituitary form of hypogonadism. Leydig cell sensitivity to human chorionic gonadotropin (HCG) has also been suggested as subnormal in FIGD. Also, in a few previously reported families the Kallmann syndrome was not clearly ruled out.Data herewith reported on three sibs with FIGD supported the following conclusions: (1) FIGD is due to insufficient hypothalamic luteinizing hormone‐releasing hormone (LRH) secretion, (2) the sensitivity of Leydig cells to HCG is normal, (3) LRH treatment may be helpful in these patients, (4) an associated hypothalamic‐pituitary‐prolactin (PRL) dysfunction may also be present, and (5) FIGD and the Kallmann syndrome are different entities having a similar pathophysiology but different cause and overall clinical picture.
Plasma creatine kinase and myoglobin levels, before and after abortion, in human fetuses at risk for Duchenne muscular dystrophy
Authors: Edwards R. J. , Rodeck C. H. , Watts D. C. , Opitz John M. 
Published: June 2005

AbstractPlasma levels of creatine kinase (CK) were measured in 14 abortuses, nine of which were at risk for Duchenne muscular dystrophy (DMD). The plasma CK level was found to be increased in all abortuses, compared with the value obtained by fetoscopy before the termination. The causes of the increase in CK level were found to be 1) method of termination, 2) physical state of the abortus at delivery, 3) delay between delivery of the abortus and taking the blood sample, and 4) site of blood sampling. It is concluded that even under optimum conditions of termination the plasma creatine kinase level of the abortus is significantly raised above the true level; hence, this measurement is not reliable as a guide to the genetic status of the fetus.Cardiac leakage was the main source of the raised plasma CK level in the abortus and this was corroborated by measurement of myoglobin levels.
Effects of genetic counseling on Duchenne muscular dystrophy families in Brazil
Authors: Zatz Mayana , Opitz John M. 
Published: June 2005

AbstractWe report the preliminary results of a follow‐up study of 574 females at‐risk for Duchenne dystrophy, recontacted 3 to 13 yr after genetic counseling (GC). Among them, 290 are younger than 18 yr or still unmarried.The effectiveness of GC (reproductive performance) in the remaining group is analyzed in terms of procreation, rate of sterilization, and mean number of children. The observed data suggest that females at‐risk involved in GC had about 169 children less than their normal, nonaffected brothers. In terms of prevention this would correspond roughly to 42 Duchenne affected boys and 42 carrier girls.
The dynamics of quantifiable homeostasis. II. Characterization of linear processes
Authors: Renie W. Andrew , Murphy Edmond A. 
Published: June 2005

AbstractThis paper deals with the representation of physiological homeostatic processes by mathematical models that lead to lag‐differential equations. It deals exclusively with feedback processes that are linear. It is surmised that in the response to standard perturbations from equilibrium, in many systems the strength at which the restorative force works (denoted by the constant b) is a genetic characteristic, while the average or homing value may or may not be. The class of equations with linear feedback is solved. The solution provides predictions against which experimental data may be tested. Three types of displacement from the homing value are recognized: drifts, catastrophes, and saccades. Several methods of evaluating the mathematical functions are described. They are forward recursion, backward recursion, numerical integration, steady‐state solutions, and inversion of the Heaviside expansion of the Laplace transform. Conditions for homeostatic processes that result in damped nonoscillating responses, damped oscillating responses, stable oscillations, and uncontrolled oscillations are derived. The concept of an associated penalty that depends on the degree of displacement from the homing value is discussed. Penalties are evaluated by numerical integration for linear, quadratic, and cubic costs. Costs for polynomial functions may be found by linear weighting. The optimum strength of response (ie, the one that produces the minimum cost) is calculated for each of these cost functions.
Familial t(4;13) with abnormal offspring in three generations
Authors: Najafzadeh Touran M. , Littman Vicki A. , Dumars Kenneth W. , Opitz John M. 
Published: June 2005

AbstractA newborn infant girl died at I day and was found to have severe intrauterine growth retardation, microcephaly, cleft lip and palate, single umbilical artery, absent thumbs, bicuspid pulmonic valve, pulmonary hypoplasia, malrotation of large and small bowel, and a 46,XX,13q+ chromosome constitution derived from a paternal t(4;13)(q25;q32) with resulting del(13q) and dup(4q). The paternal grandmother and greatgrandmother also carried the balanced translocation. Each had had a child with multiple congenital anomalies including “duplex” thumbs. However, a chromosome analysis was not performed on these abnormal infants. Our patient's clinical and cytogenetic manifestations are discussed in relation to the Niebuhr map of chromosome 13.
Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes
Authors: Niikawa Norio , Kohsaka Shinobu , Mizumoto Masahiko , Hamada Isamu , Kajii Tadashi , Opitz John M. 
Published: June 2005

AbstractWe report on a family in which a male infant had the asplenia syndrome, a younger brother had the polysplenia syndrome, and their father had situs inversus totalis. The occurrence of the asplenia and the polysplenia syndromes in a sibship of the present family and in two other previously reported sibships indicates that the two syndromes are causally and pathogenetically related to each other. If it is assumed that the father had an incomplete form of the polyasplenia complex, then the condition in this family either is an autosomal dominant trait or is multifactorially determined.
Autosomal or X‐linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy
Authors: Dahlberg Philip J. , Borer William Z. , Newcomer Kermit L. , Yutuc Wilfrido R. 
Published: June 2005

AbstractTwo brothers were found to have an unusual congenital syndrome of lymphedema, pulmonary lymphagiectasia, hypoparathyroidism, hereditary nephropathy, prolapsing mitral valve, and other somatic abnormalities.
Hematological abnormalities in newborn infants with down syndrome
Authors: Miller Marvin , Cosgriff Janice M. , Opitz John M. 
Published: June 2005

AbstractThe hematological status of 81 infants with Down syndrome was reviewed retrospectively. Twenty babies had no hematological evaluation, 33 had a normal hematological status, and 28 had at least one abnormality, either of hematocrit, white cell count, or platelet count. Among these were 18 babies with increased hematocrit, one with decreased hematocrit, four with decreased platelet count, one with increased white cell count, three with increased hematocrit and decreased platelet count, and one with increased platelet count and increased white cell count. Some of these babies were evaluated for neoplasia or sepsis; however, in all the abnormal blood findings disappeared by 3 weeks without evidence of malignancy or infection. We conclude that hematological abnormaltites with a benign natural history are common in Down syndrome infants.
Tricho‐dento‐osseous syndrome: Heterogeneity or clinical variability
Authors: Shapiro Steven D. , Quattromani Frank L. , Jorgenson Ronald J. , Young Robert S. , Opitz John M. 
Published: June 2005

AbstractTricho‐dento‐osseous (TDO) syndrome is an autosomal dominant disorder characterized by abnormalities of hair, teeth, and bone. We report on a family that seems to illustrate further clinical heterogeneity in the TDO syndrome. Although variable expression of a single TDO gene cannot be ruled out, the manifestations observed in this and other reported families appear to fall into distinct subtypes. This suggests the possibility that the clinical subtypes represent distinct genetic entities.
Duplication of the distal segment of 14q
Authors: Atkin Joan F. , Patil Shivanand , Opitz John M. 
Published: June 2005

AbstractWe describe a child with duplication of the distal segment of 14q. Her father carries a balanced translocation between chromosomes 14 and 15. A detailed table compares her clinical findings with those of the seven previously published cases and an additional three new cases in an effort to define a recognizable syndrome. Serum α‐1 antitrypsin levels and PI typing did not help to localize the α‐1 antitrypsin gene locus.
Discovery of a connective tissue dysplasia in the Martin‐Bell syndrome
Authors: Opitz John M. , Westphal Joan M. , Daniel Art , Optiz John M. 
Published: June 2005

AbstractThe fact that a connective tissue dysplasia is a component of the Martin‐Bell syndrome was a fortuitous discovery. A 26‐month‐old developmentally delayed boy had many signs of a connective tissue dysplasia for which he was referred to a University center where he was found to be fragile (X)‐positive without confirmation of a connective tissue problem. Sensitized by these events and observations, we were able to predict at a glance in an unrelated family the fragile (X)‐positive status of 2 subsequently referred brothers with mental retardation and prominent manifestations of connective tissue dysplasia. Thus, the Martin‐Bell syndrome is an incompletely recessive, pleiotropic trait involving CNS, testes and connective tissues. The characteristic facial appearance of affected males largely represents interaction of mental retardation, congenital CNS based muscle hypotonia and connective tissue dysplasia. At the 1983 NIH workshop on XLMR there was a general consensus that a connective tissue dysplasia is a component of the Martin‐Bell syndrome, a fact since confirmed by others on the basis of objective measurements of finger joint hypermobility and frequent presence of mitral valve prolapse.
Consideration of connective tissue dysfunction in the fragile X syndrome
Authors: Hagerman Randi J. , Van Housen Karen , Smith Ann C. M. , McGavran Loris , Opitz John M. 
Published: June 2005

AbstractEleven cytogenetically documented patients with the fragile X syndrome were evaluated for hyperextensibility of the finger joints and the presence of other manifestations of connective tissue dysfunction. All of the patients had hyperextensibility of several finger joints and many had features such as flat feet, highly arched palate and the ability to voluntarily dislocate finger joints. These traits, particularly hyperextensibility of the joints, are a useful aid in the clinical diagnosis of the fragile X syndrome.
A form of X‐linked mental retardation with marfanoid habitus
Authors: Lujan J. Enrique , Carlin Mary Esther , Lubs Herbert A. , Opitz John M. 
Published: June 2005

AbstractA kindred has been studied in which mental retardation and marfanoid clinical features are present in several individuals. The pedigree is consistent with X‐linked recessive inheritance. Four affected males aged 12‐18 years and four obligate carriers have been identified. Clinical findings in the 4 affected males included a tall slender habitus (3) (the fourth was tall but muscular), a long‐narrow face (3), large head (4), highly arched palate (4), small mandible (4), abnormal speech (4), hypernasal voice (3), joint hyperextensibility (3), borderline to large testes (3), pectus excavatum (2), atrial septal defect (1), and a double row of teeth (1). Mental retardation (4) ranged from mild to severe; abnormal behavior included hyperactive and aggressive behavior (2), autistic‐like (1) and jovial behavior (1). One and possibly two, males had absence of the corpus callosum. Chromosome studies on all were normal; no marker X was observed. We believe this family probably represents a new form of X‐linked mental retardation.
Ring chromosome 14 and immunoglobulin locus
Authors: Krawczun M. , Melink G. , Cervenka J. , Opitz John M. 
Published: June 2005

AbstractA 2.5‐yr‐old girl was evaluated for seizurelike episodes and psychomotor and growth retardation. Cytogenetic study showed a ring 14 chromosome in most cells, with some cells having monosomy 14. Rarely, a cell showed a double ring chromosome 14. Both parents had normal chromosomes. Because serum immunoglobulins have been mapped to the distal portion of 14q, we attempted to correlate Ig levels with the deletion involved in the formation of this ring. No decrease in IgG, IgM, IgA, IgE, and IgD serum levels was observed.The normal serum Ig levels found in the proposita are compatible with the suggestion that the Ig loci are not located on the terminal portion of 14q but more proximally in band 14q32. However, because Gm and Am allotyping was not available mapping was not conclusive.
Recurrence rate for de novo 21q21q translocation Down syndrome: A study of 112 families
Authors: Steinberg Charlotte , Zackai Elaine H. , Eunpu Deborah L. , Mennuti Michael T. , Emanuel Beverly S. , Opitz John M. 
Published: June 2005

AbstractRecurrence of de novo GqGq Down syndrome (DS) in nine reported families and the low frequency of this chromosome abnormality in the population prompted this multicenter study to examine recurrence rate. Pedigrees and cytogenetic findings were analyzed from 112 families ascertained by a DS child with de novo GqGq translocation. Four of 112 sets of parents had abnormal cytogenetic findings. One mother and two fathers had a low proportion of mosaicism for trisomy 21 in peripheral lymphocytes. In one of these fathers, fibroblast studies confirmed the mosaicism (others not similarly studied). Two of these three families have one additional child each, both being normal. In the fourth family, the mother is heterozygous for a pericentric inversion of chromosome 21.Ninety of the 112 probands had a total of 130 full sibs and 34 half sibs. None of these 164 sibs was affected; the recurrence rate could still be as high as 2% (with 95% confidence based upon calculation of a one‐tailed confidence interval). Because of the latter, the nine reports of recurrence in the literature, and the abnormal cytogenetic findings in peripheral lymphocytes in 4/112 sets of parents (3.6%), we think that caution should be exercised when counseling that the recurrence risk of this event is remote.
A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia
Authors: Parke Julie T. , Riccardi Vincent M. , Lewis Richard Alan , Ferrell Robert E. , Opitz John M. 
Published: June 2005

AbstractWe describe two brothers with severe microcephaly, unusual retinal pigmentary anomalies, intellectual function in the average or low average range, and a strong family history of hyperreflexia. The brothers have a previously undescribed syndrome, while the hyperreflexia appears to represent a coincidental autosomal dominant Mendelian trait, perhaps linked to the Kell blood group system.
Isolated tibial hemimelia in sibs: An autosomal‐recessive disorder?
Authors: McKay Marian , Clarren Sterling K. , Zorn Richard , Opitz John M. 
Published: June 2005

AbstractIsolated tibial hemimelia is generally considered to occur sporadically. We report on isolated tibial hemimelia in two sibs born to phenotypically normal parents and review a similar case from the literature. These cases suggest autosomal‐recessive inheritance. Whether isolated tibial hemimelia represents a discrete syndrome or an expression of a disorder with wider phenotypic variability remains unclear.