bluuebunny/crossref_metadata_2025_split huggingface dataset:
Incidence and timing of pregnancy losses: Relevance to evaluating safety of early prenatal diagnosis
Authors: Simpson Joe Leigh 
Published: June 2005

AbstractKnowing the frequency and timing of pregnancy loss during normal gestation is integral to evaluating the safety of prenatal diagnostic techniques. That preclinical loss rates are high in humans has long been suspected, but in the past decade new data concerning these losses have become available. Cohort studies indicate that many women who show positive β‐HCG assays never show clinical evidence of pregnancy. Cytogenetic abnormalities have also recently been documented in 20% of ostensibly normal in vitro fertilization embryos. All the above are consistent with the sentinal studies of Hertig and Rock, who showed high frequencies of morphological abnormalities in preimplantation embryos. The frequency of fetal losses after clinical recognition of pregnancy is 12–15%; however, more sensitive (ultrasonographic) methods of detecting fetal demise now indicate that most clinically recognized pregnancies occur prior to 8–9 weeks, being retained in utero 2–3 weeks prior to expulsion. Loss rates are influenced by maternal age, smoking, alcohol, and other confounding variables that if not taken into account could yield spurious results concerning safety of prenatal diagnostic techniques. After 8 weeks gestation the likelihood of losing a viable pregnancy is only 3% and after 16 weeks only 1%.
Current assessment of fetal losses as a direct consequence of chorionic villus sampling
Authors: Goldberg James D. , Porter Alison E. , Golbus Mitchell S. 
Published: June 2005

AbstractChorionic villus sampling has been developed as a method of first trimester prenatal diagnosis. In order to evaluate this new approach, accurate risk figures for the procedure must be obtained. This has been difficult for a number of reasons, including establishment of baseline fetal loss rates in the first trimester, procedural “learning curves,” and reporting biases. This review will discuss these problems and use data from the chorionic villus sampling program at the University of California, San Francisco, to illustrate difficulties in data interpretation.
Legal and ethical implications of fetal diagnosis and gene therapy
Authors: Annas George J. , Elias Sherman 
Published: June 2005

AbstractWith rapidly expanding capabilities in prenatal diagnosis and treatment resulting from new technologies, the medical profession is increasingly being confronted with legal uncertainties and ethical dilemmas. In this paper, we review current acceptable standards of care in the area of medical practice as related to genetic counseling and prenatal diagnosis. We emphasize that any attempts at therapeutic genetic intervention be carried out only 1) when there is reasonable scientific evidence that it will cure or prevent a disabling disease, and b) with the informed, voluntary, competent, and understanding consent of the individuals involved.
Carpenter syndrome: Marked variability of expression to include the summitt and Goodman syndromes
Authors: Gershoni‐Baruch Ruth 
Published: June 2005

AbstractHere we report on two sibs with Carpenter syndrome showing marked intrafamilial variability. One patient had craniosynostosis of the sagittal suture, normal intelligence, and no abnormalities of hands and feet. The second patient had polysyndactyly of hands and feet, normal intelligence, and no craniosynostosis. The diagnosis of Carpenter syndrome was made after the second affected child in the family was born. This report emphasizes previous suggestions that acrocephalopolysyndactyly, type II, has variable clinical expression. It is suggested that polysyndactyly of feet is not an absolute requisite for the diagnosis of Carpenter syndrome. This allows the inclusion of Summitt and Goodman syndromes within the clinical spectrum of this disorder.
Aspartoacylase deficiency and Canavan disease in Saudi Arabia
Authors: Ozand Pinar T. , Gascon Generoso G. , Dhalla Mohammed 
Published: June 2005

AbstractWe found defective aspartoacylase activity in fibroblasts cultured from 12 patients with leukodystrophy clinically diagnosed as spongy degeneration of the brain (Canavan disease), three confirmed by brain biopsy. The activity of aspartoacylase ranged between 1 and 13% of two groups of control individuals, normals, and those with other leukodystrophies. The present report confirms the study of Matalon et al. [1988] in a totally different ethnic group and provides independent verification that aspartoacylase activity is the first documented specific biochemical marker in Canavan disease and plays an important role in pathogenesis. Considering that only some 75 cases had been reported up to 1982, our group of 12, accumulated within 3 years, is inordinately large and suggests that Saudi Arabia provides a promising venue in which to study the biochemical and molecular genetics of Canavan disease.
Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: Karyotype‐phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3
Authors: Narahara Kouji , Kikkawa Kiyoshi , Murakami Masae , Hiramoto Kei , Namba Hiroshi , Tsuji Kazushiro , Yokoyama Yuji , Kimoto Hiroshi 
Published: June 2005

AbstractTwo patients with monosomy for the distal portion of the short arm of chromosome 3 are described. Chromosome analysis on prometaphase cells demonstrated a karyotype of 46,XX, del(3) (p25.3) in one patient and 46,XX, r(3)(p26.1q29) in the other. The former patient showed characteristic clinical manifestations of the 3p‐ syndrome, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, downturned mouth, micrognathia, apparently lowset and malformed ears, finger abnormalities, and deafness. The latter patient had a nonspecific phenotype with mental retardation, growth failure and microcephaly. Karyotypephenotype comparisons in the present cases and 16 previously reported cases with deficiency of the distal portion of 3p suggests that deficiency of the 3p25.3 band is critical to produce the main clinical manifestations of the del(3p) syndrome.
Autosomal recessive hydrocephalus with third ventricle obstruction
Authors: Chow C. W. , McKelvie P. A. , Anderson R. McD. , Phelan E. M. D. , Klug G. L. , Rogers J. G. 
Published: June 2005

AbstractHere we report a brother and sister who presented in the neonatal period with hydrocephalus. Ultrasonography showed marked dilatation of the lateral ventricles but not the third ventricle. One child with postnatal onset was shunted and had normal development at 3 years. The other child had severe hydrocephalus at birth and was not treated. Neuropathologic studies demonstrated dilatation of the lateral ventricles and marked narrowing of the posterior part of the third ventricle but no other malformations other than those that result directly from hydrocephalus. The potential for a good prognosis is emphasized.
Oral–facial–digital syndrome type VI (Váradi syndrome): Further clinical delineation
Authors: Münke Maximilian , McDonald Donna M. , Cronister Amy , Stewart Janet M. , Gorlin Robert J. , Zackai Elaine H. 
Published: June 2005

AbstractCerebellar anomalies are consistent findings in patients with the oral–facial–digital syndrome type VI (Váradi syndrome) in addition to variable facial and oral changes, and polysyndactyly of hands and feet. We report 3 unrelated patients with this entity who have a hypoplastic cerebellar vermis shown by magnetic resonance imaging (MRI), as well as clinical signs of cerebellar defect. Polydactyly of the hands is characterized by a central Y‐shaped metacarpal. Clinically recurrent episodes of tachypnea and hyperpnea are remarkable. Postnatal growth is delayed with short stature in all 3 patients possibly due to growth hormone deficiency in one of them. In contrast to reported patients who are all severely mentally retarded, one of our patients is of normal intelligence. Type VI oral‐facial‐digital syndrome is an autosomal‐recessive trait and may be detected prenatally.
Previously unrecognized congenital progeroid disorder
Authors: Petty Elizabeth M. , Laxova Renata , Wiedemann Hans‐Rudolf 
Published: June 2005

AbstractWe report on a 5‐year‐old girl with a progeroid disorder and compare her to a previously reported woman now in her forties, whom she resembles to a striking degree. Common manifestations include pre‐ and post‐natal growth retardation, markedly diminished subcutaneous fat, wrinkled skin, abnormally scant hair growth, hypoplastic distal phalanges with hypoplastic nails, umbilical hernia, large open anterior fontanelle, and normal cognitive and motor development. Both patients have had a prematurely aged appearance since birth. These 2 patients appear so different from previously reported patients with progeroid disorders that they may represent a separate entity.
Pathogenesis of the lethal multiple pterygium syndrome
Authors: Moerman Philippe , Fryns Jean‐Pierre , Cornelis Ann , Bergmans Guido , Vandenberghe Kamiel , Lauweryns Joseph M. 
Published: June 2005

AbstractWe present autopsy studies in 4 unrelated fetuses with the lethal multiple pterygium syndrome (LMPS) with special emphasis on the neuromuscular system. The data suggest that LMPS combines the manifestations of a jugular lymphatic obstruction sequence with those of an early severe fetal akinesia sequence. The jugular lymphatic obstruction sequence with resultant edema and cystic hygroma colli causes fetal lethality usually in the second trimester of pregnancy. Generalized amyoplasia appears to be an important mechanism in the pathogenesis of fetal akinesia as part of LMPS and is not associated with dysgenesis or degeneration of the central nervous system (CNS) but is apparently the result of an early fetal muscular “dystrophy.” We propose a genetically determined insult affecting the early embryonic development of both lymph vessels and muscles as the basic defect in LMPS. Placental structure, studied in all 4 cases, demonstrated that triploidy‐like placental lesions are specific to LMPS. The present findings suggest that LMPS may be a less heterogeneous entity than previously proposed.
Hypomelanosis of Ito—a nonspecific marker of somatic mosaicism: Report of case with trisomy 18 mosaicism
Authors: Chitayat David , Friedman J. M. , Johnston Margaret M. 
Published: June 2005

AbstractWe report on a patient with hypomelanosis of Ito (HI), developmental delay, recurrent pneumonia, and facial asymmetry. Chromosome analysis done on blood and on one of three skin biopsies showed trisomy 18 mosaicism. This is the first report of HI associated with trisomy 18 mosaicism. This neuroectodermal disorder appears to be a nonspecific manifestation of chromosome mosaicism.
Stepwise oligogenic segregation and linkage analysis illustrated with dopamine‐β‐hydroxylase activity
Authors: Wilson A. F. , Elston R. C. , Sellers T. A. , Bailey‐Wilson J. E. , Gersting J. M. , Deen D. K. , Sorant A. J. M. , Tran L. D. , Amos C. I. , Siervogel R. M. 
Published: June 2005

AbstractA stepwise oligogenic method is developed that can be used to adjust the phenotype of a quantitative trait for the effects of a previously identified single‐locus component. This method assumes that a single‐locus component can be adequately identified through the use of segregation and/or linkage analysis under a 1‐locus model and that the variation due to that locus can be removed from the phenotype leaving a residual that can be parameterized in terms of an additional single‐locus component. Segregation and/or linkage analysis can then be used in an attempt to identify an additional single‐locus component in the residual phenotype. This stepwise process can be repeated until no further single‐locus effects are identified. The method is illustrated using family data on the specific activity of dopamine‐β‐hydroxylase (DBH), which a number of studies have suggested may be due either to the combined effects of singlelocus and multifactorial components or to the combined effects of 2 loci.
Neuroblastoma in a child with Wiedemann–Beckwith syndrome
Authors: Chitayat David , Friedman J. M. , Dimmick James E. 
Published: June 2005

AbstractWe report on a patient with Wiedemann‐Beckwith syndrome (WBS) who developed abdominal neuroblastoma. Although WBS patients are known to have a higher incidence of embryonal tumors, this is only the 4th known case of neuroblastoma associated with this syndrome. Chromosomes on peripheral lymphocytes and tumor cells were normal. Children with WBS should be screened for a variety of embryonal neoplasms, not only Wilms tumor.
Hereditary cranium bifidum and symmetric parietal foramina are the same entity
Authors: Little Bertis B. , Knoll Kraig A. , Klein Victor R. , Heller Karen B. 
Published: June 2005

AbstractCranium bifidum is literally “cleft skull.” Numerous reports describe the anatomy of this defect, and crude estimates of the population prevalence suggest it is a relatively infrequent occurrence. McKusick's catalog contains only one family with cranium bifidum but several familial reports of symmetrical parietal foramina. Available information indicates that cranium bifidum and symmetrical parietal foramina are inherited in an autosomal dominant fashion and occur in orientals, blacks, whites, and native Americans. Here we report on a family with serial radiographs that document ontogenic development of parietal foramina in late childhood and adulthood from apparent cranium bifidum and parietal foramina during infancy and early childhood. We conclude that these are the same entity, differentiated only by the time during life in which the defect is demonstrated.
Syndrome of partial aniridia, cerebellar ataxia, and mental retardation—Gillespie syndrome
Authors: Nevin N. C. , Lim J. H. K. 
Published: June 2005

AbstractHere we describe a 5‐year‐old girl with Gillespie syndrome of cerebellar ataxia, partial aniridia, and mental retardation. The Gillespie syndrome probably is an autosomal recessive trait.
Johanson‐Blizzard syndrome: Clinical spectrum and further delineation of the syndrome
Authors: Gershoni‐Baruch Ruth , Lerner Aaron , Braun Jacob , Katzir Yossef , Iancu Theodore C. , Benderly Avraham 
Published: June 2005

AbstractWe report on 2 patients with Johanson blizzard syndrome and review the literature, in an attempt to further characterize the clinical spectrum of this disorder.
Dubowitz syndrome: Possible evidence for a clinical subtype
Authors: Ilyina Helena G. , Lurie Iosif W. 
Published: June 2005

AbstractClinico‐genetic analysis of 21 personal observations and review of the literature confirmed the existence of a wide phenotypic spectrum of Dubowitz syndrome. It is shown that in spite of marked microcephaly, severe mental deficiency is rare in Dubowitz syndrome and about half of the patients are mentally normal. A “new” clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis. All three families with this form are natives of a small area of Byelorussia, suggesting an autosomal or X‐linked recessive mode of inheritance of this subtype. The data obtained confirm autosomal recessive inheritance of Dubowitz syndrome.
Trisomy 22 in a liveborn infant with multiple congenital anomalies
Authors: McPherson Elspeth , Stetka Daniel G. 
Published: June 2005

AbstractWe report on the third confirmed case of trisomy 22 in a liveborn infant. High‐resolution banding studies ruled out translocations such as the relatively common t(11;22). The infant shared many manifestations with other reported cases of trisomy 22 (e.g., growth deficiency, microcephaly, micrognathia, ear malformations, cleft palate, and congenital heart defect) and some manifestations in common with dup 22. Trisomy 22 appears to cause a severe malformation syndrome, and survival to term is rare.
Infantile hypophosphatasia: Autosomal recessive transmission to two related sibships
Authors: Moore Cynthia A. , Ward Jewell C. , Rivas Marian L. , Magill H. Lynn , Whyte Michael P. 
Published: June 2005

AbstractHypophosphatasia, a rare heritable form of rickets/osteomalacia, is characterized by deficient activity of the tissue nonspecific (liver/bone/kidney) isoenzyme of alkaline phosphatase (ALP). Signs may be present prenatally or not until late adult life. Although the infantile form of hypophosphatasia has usually been categorized as an autosomal recessive (AR) disorder, several studies suggest that childhood cases are the consequence of either AR or autosomal dominant (AD) inheritance and adult cases are primarily AD. Eastman and Bixler (J Craniofac Genet Dev Biol 3:213–234, 1983) propose that all cases of hypophosphatasia may reflect AD inheritance with 85% penetrance and homozygous lethality.We report on 3 patients with hypophosphatasia in a black family, first manifested clinically during infancy, where the pattern of inheritance for each is consistent with AR transmission. Two were brothers who died from the disorder. The other patient, a cousin, presented with classic stigmata of hypophosphatasia during infancy, but is now age 5 1/2 years and has had a much milder clinical course. Although consanguinity is absent, the maternal grandmothers are sibs as are the maternal grandfathers and the paternal grandmothers. The family history is otherwise negative for skeletal or dental disease. Laboratory and radiographic results are consistent with heterozygosity in each parent. Fibroblast ALP activity is <1% normal in all 3 patients with no complementation observed in heterokaryon analysis. Accordingly, the genetic defects appear to be identical in all 3 patients. Our findings show that infantile hypophosphatasia may be inherited as an AR condition where there is variable expressivity and that homozygosity or compound heterozygosity, as may be the case in this family, is not necessarily lethal.
A prevalence study of rett syndrome in an institutionalized population
Authors: Burd Larry , Martsolf John T. , Randall Tim 
Published: June 2005

AbstractAn institution for the mentally retarded was surveyed to determine the prevalence rate of Rett syndrome (RS). Four patients with definite RS and one with probable RS were identified in a population of 350, yielding a prevalence rate of 1 in 87, about 1% of institutionalized male and female patients with mental retardation. In this population of patients with severe and profound mental retardation (N = 297), 138 females were surveyed, suggesting a prevalence rate among females of 1 in 34 in an institutional population of persons with mental retardation. Surveys of institutions for persons with mental retardation may be an effective method to identify adults with RS.
Obesity, hypertension, and renal disease in relatives of Bardet‐Biedl syndrome sibs
Authors: Croft Janet B. , Swift Michael 
Published: June 2005

AbstractThe Bardet‐Biedl syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopathy, obesity, polydactyly, hypogonadism, and mental retardation. Renal abnormalities, hypertension, acquired heart disease, and hepatic fibrosis also occur in homozygotes. Two adult Bardet‐Biedl sibs, a man with hypertension and cardiomegaly and a woman with biliary cirrhosis, and 75 relatives in 5 generations of the extended family were identified. Hospital records for major illnesses, death certificates, and autopsy reports were examined. The frequent observation of obesity, hypertension, diabetes mellitus, and renal disease in first‐degree relatives, obligate gene carriers, and other blood relatives raise the possibility that Bardet‐Biedl heterozygotes are also predisposed to these disorders.
DNA linkage analysis and studies of the androgen receptor gene in a large kindred with complete androgen insensitivity
Authors: Imperato‐McGinley Julianne , Ip Nancy Y. , Gautier Teofilo , Neuweiler John , Gruenspan Harry , Liao Shutsung , Chang Chawnshang , Balazs Ivan 
Published: June 2005

AbstractDNA linkage analysis of the X chromosome and studies with cDNA probes specific for the androgen receptor gene were performed on the largest known kindred with the syndrome of complete androgen insensitivity. The affected subjects (XY) have absent binding of dihydrotestosterone to the androgen receptor (the receptor negative form of androgen insensitivity). In this kindred there was maternal transmission of the gene, with all affected males expressing complete genital feminization. Linkage analysis studies were conducted with two DNA probes, DXS1 and PGK1, localized to the Xq11–Xq13 region of the long arm of the X chromosome near the centromere. The results demonstrate linkage to the markers in the order of DXS1‐(AR; PGK1), thus localizing the AR gene to an area between Xq11 and Xq13. Three cDNA probes that span various parts of the androgen receptor gene, including the DNA and steroid binding domain, were used to evaluate the androgen receptor gene in normal individuals, carrier mothers, and affected subjects. Identical restriction fragment patterns were found in all three groups studied. Thus the androgen receptor gene was present in affected subjects without detectable DNA polymorphism at the androgen binding domain. Therefore, despite complete absence of binding to the androgen receptor, the defect in the androgen receptor gene in this kindred is not the result of a gene deletion. The results point to a mutation or a small insertion/deletion as the probable cause of the syndrome.
Two brothers with mental retardation discordant for the Fragile‐X syndrome
Authors: van Roy Bernadette C. , Willems Patrick J. , Vits Lieve J. , Ceulemans Berten P. , Coucke Paul J. , van der Auwera Bart J. , Lormans Jacques A. G. , Dumon Jan E. 
Published: June 2005

AbstractWe describe two male sibs with mental retardation discordant for the fragile‐X syndrome. In the younger sib, chromosome analysis under folate deprivation showed a fragile site at Xq27.3 in 12‐46% of mitoses. In the older sib, however, repeated chromosome analyses (six different cultures with analysis of 50 mitoses each) under identical conditions could not detect any fragile‐X site. Using DNA probes linked to the fragile‐X gene, we found evidence that the two sibs inherited a different maternal X chromosome at Xq27.3. This excluded the presence of the fragile‐X syndrome in the older sib with a probability of greater than 99%.
Syndrome of a craniofacial dysostosis, limb malformation, and omphalocele
Authors: Gardner R. J. M. , Morrison P. S. , Faigan L. A. , Kennedy J. C. , Fitzgerald P. H. 
Published: June 2005

AbstractWe describe an infant with a unique combination of a severe craniofacial dysostosis and a very distinctive facies, severe limb defects, a thoracic deformity, and an omphalocele as the major anomalies. We propose that this represents a “new” syndrome of multiple congenital abnormalities.
Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cb1‐C type)
Authors: Brandstetter Yuval , Weinhouse Elliott , Splaingard Mark L. , Tang Thomas T. 
Published: June 2005

AbstractWe report an infant with a bronchiolitis‐like illness and rapid deterioration who developed a cor pulmonale‐like picture with a dilated right ventricle. Urinary organic acid assays established a probable diagnosis of Cbl‐C‐type methylmalonic aciduria, later confirmed by complementation studies. Despite medical intervention and cyanocobalamin treatment the patient died on his tenth hospital day. Postmortem examination showed the presence of thromboemboli in the pulmonary circulation. We hypothesize that acute cor pulmonale developed in this infant secondary to thromboembolism of his pulmonary circulation. A review of the literature shows that thromboembolism may be a part of this disease process.
Case of direct insertion within a chromosome 3 leading to a chromosome 3p duplication in an offspring
Authors: Watson Michael S. , Dowton S. Bruce , Rohrbaugh James 
Published: June 2005

AbstractAn infant with developmental delay and multiple minor congenital anomalies had a duplication of bands p11.1→p14.2 in 3p. Maternal chromosome studies demonstrated a direct intrachromosomal insertion within chromosome 3p.