bluuebunny/crossref_metadata_2025_split huggingface dataset:
The familial component in longevity—A study of offspring of nonagenarians: III. Intrafamilial studies
Authors: Abbott Margaret H. , Abbey Helen , Bolling David R. , Murphy Edmond A. , Opitz John M. 
Published: June 2005

AbstractThe effect of parental longevity on the length of survival of offspring has been examined according to selected demographic and environmental characteristics. The present study is based on 7,103 progeny, 20 years old or older. They were the sons and daughters of 1,766 men or women, 90 or more years old, who were alive in 1922–1930 at the time of ascertainment. The age at death of the other parent of the offspring is the basis of classification used in this analysis. A positive relationship was found between age at death of the non‐proband parent and the age at death of the offspring. This relationship existed regardless of similarities or differences in the characteristics analyzed.
X‐linked mental retardation: Transmission of the trait by an apparently unaffected male
Authors: Wolff Gerhard , Hameister Horst , Ropers Hans‐Hilger , Opitz John M. 
Published: June 2005

AbstractA pedigree is presented in which an apparently unaffected man transmitted the gene for X‐linked mental retardation to at least four of his 12 daughters. None of his 12 sons was mentally retarded. These findings may be explained by a somatic mutation and germinal mosaicism in the father or by a half chromatid mutation in maternal gametes.
Autosomal dominant Fanconi syndrome with early renal failure
Authors: Friedman Aaron L. , Trygstad Carl W. , Chesney Russell W. , Opitz John M. 
Published: June 2005

AbstractThe “idiopathic” Fanconi syndrome occurs mostly sporadically, occasionally as an autosomal recessive trait. However, few instances of autosomal dominant inheritance have been reported. We described a father and son with the Fanconi syndrome, ie, with renal glycosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and bone disease. No other causes of the Fanconi syndrome were found.Both father and son developed end stage renal disease. Aminoaciduria in excess of that seen in renal insufficiency is shown by comparison with published data for amino acid excretion in uremia. Renal transplantation in the father has improved kidney function with no evidence of Fanconi syndrome. This family is unique in that there are no other reports of autosomal dominant Fanconi syndrome with progression to early renal failure.
Genetics of acheiropodia (“the handless and footless families of Brazil”): X. Roentgenologic study
Authors: Freire‐maia Ademar , Laredo‐filho José , Freire‐maia Newton , Hall Judith G. 
Published: June 2005

AbstractThe main radiologic findings from four unrelated cases and two sibs with acheiropodia are presented and discussed. On the basis of such analysis, a clinical and radiologic description of the anomaly is given. The presence of one or more fingers and of a small bone (Bohomoletz bone) in the upper stumps is discussed. These unusual findings in bone structure were assumed to be due to a variability in the expression of the acheiropodia gene. Radiologic studies of some of the acheiropods' normal parents failed to reveal even mild manifestations of the gene in the heterozygous state. No recognizable pattern was found in the dermal ridges on the end of the acheiropods' upper or lower stumps.
The Johanson‐Blizzard syndrome: Case report and autopsy findings
Authors: Daentl Donna L. , Frías Jaime L. , Gilbert Enid F. , Opitz John M. , Kaye Celia 
Published: June 2005

AbstractWe report the case of a boy with the Johanson‐Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo‐cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.
Increased aneuploidy in Alzheimer disease
Authors: Ward Brian E. , Cook Robert H. , Robinson Arthur , Austin James H. , Summitt Robert L. 
Published: June 2005

AbstractThe purpose of this study was to determine if cytogenetic changes are present in Alzheimer disease, one of the presenile dementias. The chromosomes of three groups of people were studied: 1) sporadic cases fo Alzheimer disease (eight cases), 2) familial cases of Alzheimer disease with affected individuals in at least two generations of their families (five cases), and 3) currently unaffected siblings of the affected individuals in these families (nine cases). One hundred cells per individual were examined using GTG banding to allow chromosome identification.A statistically significant increase in aneuploidy was found in five of eight patients in group 1 (P<0.05) and in each of five patients in group 2 (P<0.001) when compared with the rate of aneuploidy in age‐and sex‐matched controls. In addition, two individuals in group 3 exhibited a significant increase in aneuploidy over the control group, raising the possibility that finding increased aneuploidy may allow one to anticipate the clinical expression of the disease state.
Chylous ascites in sibs from a consanguineous marriage
Authors: Flores Samuel , Leungas Javier , Arredondo‐Vega F. , Guízar‐Vázquez J. , Optiz John M. 
Published: June 2005

AbstractWe report a brother and a sister with congenital chylous ascites. Parents were first cousins, and autosomal recessive inheritance may be the cause of the condition in these sibs.
An examination of the spectrum of anatomic defects and variations found in eight cases of trisomy 13
Authors: Pettersen James C. , Koltis Gordon G. , White Michael J. , Optiz John M. 
Published: June 2005

AbstractWe report the anatomic variations found in four additional cases of trisomy 13. Data from these and four previous cases [Colacino and Pettersen, 1978] are utilized to define a muscle phenotype. Previously unreported defects include the bilateral presence of cervical ribs and the bilateral absence of 12th thoracic ribs in five of the eight cases. One unusual developmental defect of the great vessels is also described. The findings suggest that a definitive diagnosis of trisomy 13 can be made on the basis of six muscle variations.
Frequency and characteristics of birth defects admissions to a pediatric hospital in Venezuela
Authors: Penchaszadeh Victor B. , Hall Judith G. 
Published: June 2005

AbstractA survey of the 6,161 admissions to a pediatric hospital of Caracas during 1976 was conducted to determine the frequency and some characteristics of those admissions due to birth defects. The charts of all patients in whom a birth defect had been suspected or diagnosed during admission were reviewed and analyzed. These admissions numbered 629, that is 10.2% of the total, and were categorized as follows: 1) Birth defects of genetic origin: a) single gene – 3.2%; b) polygenic – multifactorial – 3.3%; c) chromosomal – 0.7%. 2) Birth defects due to an intrauterine insult – 0.1%. 3) Birth defects of unknown or heterogenous causes – 2.9%. The mean length of hospitalization was higher for birth defects patients than for all admissions: 15.6 and 11.6 days, respectively. There was no difference in mortality during admission between birth defects patients and all admissions, both being rather high, 8.2 and 8.3%, respectively.The lower prevalence of birth defects observed in this study as compared with North American surveys is due to several factors, among which the most relevant is the persistent burden of environmental infectious and nutritional diseases in the pediatric age population in Venezuela. Nevertheless, it is thought that the foreseeable improvement in medical care organization and socioeconomic conditions of the population will lead to a relative rise in the morbidity and mortality due to birth defects in the near future, as was the case in developed nations. Thus it is necessary to develop medical genetics services in major hospital centers in order to provide present and future demands of genetic care.
Sib risks of anencephaly and spina bifida in British Columbia
Authors: McBride Mary L. , Murphy Edmond A. 
Published: June 2005

AbstractThe prevalence at birth of anencephaly or spina bifida cystica among sibs of individuals born in British Columbia with these defects was studied using routinely collected records of morbidity and mortality within the province. The population prevalence of these neural‐tube defects in British Columbia is approximately 1.55 per thousand births, lower than in other areas where family studies have been carried out. A total of 1,028 affected individuals born in British Columbia during the period 1952–1970 was ascertained from health and vital documents collected on an ongoing basis by the Division of Vital Statistics of the British Columbia Ministry of Health. Information on the families of these cases was acquired using computer‐linked groupings of British Columbia marriage, birth, and stillbirth records.The risk of affected individuals among the sibs was 2.4%, about 15 times the population prevalence at birth. The prevalence among subsequent sibs of the first affected individual in a family was 2.1%. There was no difference in risk when various factors that influence the population incidence of these conditions were considered. The risk of recurrence of either of these anomalies after two previously affected sibs was 4.8%, or double the risk after one affected sib.From these results and those of a recent New York survey of sib risks of neural‐tube anomalies it would seem that the risk of anencephaly and spina bifida cystica to sibs of affected cases in North America is approximately half the risk in Great Britain, and it is this lower risk of 2% that should be used for genetic counseling in North America.
Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: A study of four individuals in two families
Authors: Liberfarb Ruth M. , Breg W. Roy , Atkins Leonard , Holmes Lewis B. 
Published: June 2005

AbstractWe have evaluated four individuals from two unrelated families with a similar multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial duplication of chromosome 1q and possible deletion 18p. In both families the mothers and several relatives were carriers of the balanced translocation rep t(1;18) (q42;p11).The features which the four have in common are relative macrocephaly, prominent forehead, micrognathia, and highly arched palate; three of the four individuals have short stature, scoliosis, kyphosis, hirsutism, camptodactyly, sacral dimple, repaired inguinal hernias, and eye abnormalities.Reproductive histories of five balanced translocation carriers in these families indicate that they have a high risk of spontaneous abortions and infants with multiple malformations.
Genetic counseling — the postcounseling period: I. Parents' perceptions of uncertainty
Authors: Lippman‐Hand A. , Fraser F. Clarke 
Published: June 2005

AbstractTo investigate how parents who have had genetic counseling perceive the problems created by being at risk, transcripts of open‐ended, semistructured follow‐up interviews with 53 counselees were analyzed qualitatively. Rate information, though recalled accurately by parents considering further childbearing, was discounted as impersonal, and subjects overwhelmingly perceived the chance of recurrence in binary form – it either will or will not happen. By processing rates this way, they simplified probabilistic information and shifted their focus to the implications of being at risk and the potential impact of that which might or might not occur. The many uncertainties they faced, the “consequences” of being at risk that parents felt had to be resolved during the decision‐making process, fell into 3 major categories: uncertainty that arose because of the ambiguous impact and meaning of having an affected child; uncertainty about how to make a choice and how others would view it, the burden of decision‐making; and uncertainty about their ability to fulfill their roles as parents. These issues were perceived as part of the problem to be resolved and were consolidated into “scenarios” in which the parents “tried out the worst.” This analysis of counselees' perceptions of the problems created by being at genetic risk suggests that parents may process the disparate facts of their situation in common ways that emphasize their uncertainty, and it indicates that how parents perceive factual information may be more important in orienting their deliberations than what these facts (diagnosis, prognosis, risks) actually are.
Genetic counseling — the postcounseling period: II. Making reproductive choices
Authors: Lippman‐Hand A. , Fraser F. Clarke 
Published: June 2005

AbstractQualitative analysis of transcripts of follow‐up interviews with 53 parents who had had genetic counseling was undertaken to characterize the process by which childbearing decisions were made and to determine how counselees resolved the problems created by being at risk. Although specific issues to be resolved varied with a parent's perception of his or her situation, all those who considered having subsequent children attempted to limit the uncertainties they faced and to neutralize those consequences perceived as most problematic. To do so, counselees uniformly inferred from factual information and experiences available to them how they could manage the possible consequences of taking a chance. Factors influencing a parent's ability to make a clear decision included the presence of a previous normal child, the diffusion of decision‐making responsibility to others, and recognition that one had already managed the worst. When these “facts” could not be processed to provide a sense of coping, parents either decided against reproduction and took appropriate action or made a “non‐decision” about reproduction by choosing to leave conception to chance. These various tactics allowed parents to create a “least‐lose” option in terms of their child‐bearing choices. This analysis of how parents make reproductive decisions, along with previous findings, suggests that being at risk both creates common problems and elicits common responses from counselees. Moreover, it highlights the importance of recognizing parents' perceptions of their situation to understand how their deliberations are structured and how factual information influences their ultimate choices.
Autosomal dominant atresia of the auditory canal and conductive deafness
Authors: Robinow Meinhard , Jahrsdoerfer Robert A. 
Published: June 2005

AbstractWe report autosomal dominant atresia and/or stenosis of the external auditory canal with or without conductive deafness. In the family described here the anomaly had occurred in 12 individuals in five generations. Penetrance was very high, expressivity quite variable. The clinical, audiometric, radiographic, and operative findings in three patients (grandfather, father, and son) are presented. This condition has been reported only once previously.
Prenatal diagnosis of congenital adrenal hyperplasia
Authors: Marcus E. S. , Holcombe J. H. , Tulchinsky D. , Rich R. R. , Riccardi V. M. 
Published: June 2005

AbstractThe accurate prenatal diagnosis of 21‐β‐hydroxylase deficiency, based on amniotic fluid levels of 17‐hydroxyprogesterone, is documented for a fetus 14½ weeks old. In addition, family HLA genotyping data are consistent with the purported linkage between the HLA locus and the locus for 21‐β‐hydroxylase.
Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family
Authors: De Pina Neto João Monteiro , Ferrari Iris 
Published: June 2005

AbstractA case of partial 3p trisomy is reported here. A review of published cases (8 ♂, 2 ♀, 7 families) shows a characteristic pattern of anomalies, constituting one more syndrome of multiple congenital anomaly and mental retardation (MCA/MR) characterized by microcephaly, brachycephaly, frontal bossing, temporal indentation, square face, hypertelorism or telecanthus, epicanthus, short nose with a large tip, prominent cheeks, long and protruding philtrum, large and downturned mouth, protruding mid‐upper lip, micro‐ or retrognathia, short neck, congenital heart defects, gastrointestinal malformation, penile hypoplasia, neuromotor or mental retardation, and predominance of whorls on digits.The proposita had a 46,XX,der(11),t(3;11)(p21;q25) karyotype. The mother was a carrier of a de novo 3;11 balanced translocation. Chromosome mosaicism was detected in a female sibling of the proposita: 46% of her cells were 46,XX and 54% had a 46,XX,t(3;20)(p21;q13) karyotype ‐ ie, a de novo 3;20 balanced translocation. We discuss the origin of this mosaicism and the possible meaning of the breaks involving the same region of chromosome 3 (region 3p21) in the members of the proposita's family.
Tryptophan and lysine metabolism in alpha‐aminoadipic aciduria
Authors: Fischer Milton H. , Brown Raymond R. 
Published: June 2005

AbstractTwo brothers previously diagnosed as having α‐aminoadipic aciduria (α‐AA) were subjected to a tryptophan loading test to determine if their condition resulted from a defect in the α‐aminoadipate aminotransferase (kynurenine amino‐transferase) system. Normal increases in kynurenic and xanthurenic acids eliminated this possibility. Further analyses of their urines revealed that both boys had measurable amounts of previously undetected α‐ketoadipic acid (α‐KA) before and after the loading test. A reexamination of specimens from a prelysine and postlysine loading test reconfirmed the existence of α‐KA in their urines at the time the original observation of α‐AA was made. The response to the lysine load was a predictable increase in both α‐AA and α‐KA. The boy who had been referred to this institution with a learning defect responded to the tryptophan load with a slight decrease in α‐AA and an unpredicted decrease in α‐KA and 3‐hydroxykynurenine. His mentally normal brother showed a significant decrease in α‐AA and major increases in all other measured metabolites including α‐KA. The latter results were compatible with a defect in the oxidative decarboxylation of α‐KA. A comparison of the urinary α‐AA and α‐KA concentrations in our subjects with comparable data in mentally normal and mentally retarded patients with this condition suggested that the retardation may result from other causes.
Deletion of a portion of the long arm of chromosome 6
Authors: Goldberg Rosalie , Fish Bernard , Ship Arthur , Shprintzen Robert J. 
Published: June 2005

AbstractWe describe a 3‐year‐old male with deletion of part of 6q. The karyotype was 46,XY,del(6q) in both lymphocytes and skin fibroblasts. The patient had: frontal bossing, epicanthal folds, broad nasal bridge, apparently low‐set and posteriorly angulated ears, micrognathia, cardiac defects, cleft palate, unusual digital anomalies, developmental retardation, and obstructive sleep apnea.
The van der Woude syndrome in a large kindred: Variability, penetrance, genetic risks
Authors: Janku Patricia , Robinow Meinhard , Kelly Thaddeus , Bralley Ralph , Baynes Alice , Edgerton Milton T. , Opitz John M. 
Published: June 2005

AbstractThe van der Woude syndrome was studied in a seven‐generation kindred. Lip pits were the most common manifestation of affected persons. They occurred in 88% of the affected and were the only manifestations in 64%; clefts of lip and palate occurred in 21%. Penetrance was 96.7%. careful examination showed minor manifestations of the syndrome in several individuals who had considered themselves unaffected. The distribution of manifestations and the risk to offspring differed appreciably from that reported in the literature. The implications of these findings for genetic counseling are discussed.
Borderline normal intelligence in the Smith‐Lemli‐Opitz (RSH) syndrome
Authors: Lowry R. Brian , Yong Siu‐Li , Opitz John M. 
Published: June 2005

AbstractWe report two sibs with the Smith‐Lemli‐Optiz (RSH) syndrome and intelligence in the borderline normal range. The proposita has all the features of the syndrome; however, her brother shows fewer signs, indicating that considerable variability of expression may exist for this autosomal recessive trait. Nearly all previous cases had severe to profound mental retardation. The incidence of the syndrome in British Columbia is approximately 1/40,000 live births, giving a heterozygote frequency of about 1/100.
Genetic counseling dilemmas: Down syndrome, paternal age, and recurrence risk after remarriage
Authors: Hook Ernest B. , Karp Laurence E. 
Published: June 2005

AbstractThe recent demonstration that about 20–30% of cases of Down syndrome are of paternal origin has again raised interest in the question of the possible contribution of paternal age independent of maternal age to a couple's risk of a Down syndrome live birth. In this paper the nature of the available evidence is critically reviewed, interpretations reconciling differences between studies that reached opposite conclusions are presented, and an approach to genetic counseling in the face of such apparent differences in the literature is discussed. It is not likely that data from ad hoc studies of parental origin of the extra chromosome will be sufficient to judge the existence or magnitude of paternal age‐specific risk, and reliance must be made on statistical studies that searched for paternal age effects while controlling for maternal age. The literature is consistent with an apparent doubling of risk for paternal age 55 and over, but no effect at younger paternal ages. With regard to remarriage, it is suggested that if members of a couple with a 47, +21 child remarry it be assumed that the excess risk “travels” to that new couple which includes the parent in whom non‐disjunction occurred in the previous marriage. If parental origin is not known, it is suggested that the risk be calculated on the assumption of a 20–30% likelihood that it was of paternal origin and a 70–80% likelihood that it was of maternal origin, and that the excess empiric risks be apportioned accordingly in the new marriages.
Trisomy 6q25→6qter in two sisters resulting from maternal 6;11 translocation
Authors: Clark Constance E. , Cowell Henry R. , Telfer Mary A. , Casey Pamela A. 
Published: June 2005

AbstractChromosome banding was used to define a partial duplication of the long arm of chromosome 6 (6q25→6qter) in two profoundly affected sisters and to identify their phenotypically normal mother and sister as balanced translocation carriers whose karyotypes were interpreted as 46,XX,t(6;11) (q25;q25). Prominent clinical features included profound mental retardation, hypertelorism, micrognathia, down‐turned mouth, dental anomalies, clubfeet, webbed neck, late progressive scoliosis, flexion contractures, and low total finger ridge count. By comparison with published reports, it has been possible to establish a trisomy 6q25→6qter syndrome.
Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly
Authors: Jennings Mark T. , Hall Judith G. , Kukolich Mary 
Published: June 2005

AbstractWe describe two brothers with endocardial fibroelastosis, unusual facial appearance, and cryptorchidism. The surviving brother has mental retardation, seizures and possible hypothalamic dysfunction. Both brothers have a head size greater than two standard deviations above normal; this appears to be related to superimposed presence of coincidental autosomal dominant macrocephaly in this family.