bluuebunny/crossref_metadata_2025_split huggingface dataset:
Linkage localization of Börjeson‐Forssman‐Lehmann syndrome
Authors: Mathews Katherine D. , Ardinger Holly H. , Nishimura Darryl Y. , Buetow Kenneth H. , Murray Jeffrey C. , Bartley James A. 
Published: June 2005

AbstractBörjeson‐Forssman‐Lehmann syndrome (BFLS) is a form of X‐linked mental retardation (XLMR) with characteristic minor physical anomalies. It has no biochemical or cytogenetic markers. Heterozygous females may be entirely normal or may have mild‐to‐moderate manifestations. We studied 41 individuals from one family with BFLS for linkage on the X chromosome. The highest lod scores were 2.32 with DXS10 and 2.24 with DXS51, both at a θ = 0.0. A single recombinant was found between HPRT and BFLS. These results suggest that the BFLS locus is on the distal portion of Xq. Previously reported linkage studies in families with XLMR have not shown linkage with DXS10. This study suggests that one of the several X chromosome loci whose dysfunction is associated with mental retardation is located on distal Xq.
MCA/MR syndrome with oligodactyly and Möbius anomaly in first cousins: New syndrome or familial facial‐limb disruption sequence?
Authors: Journel H. , Roussey M. , Le Marec B. 
Published: June 2005

AbstractWe report on two sibs with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome who have a first cousin with Möbius anomaly. This may represent a new MCA/MR syndrome.
Inheritance and phenotypic expression of a t(7;9)(q36;q34)mat
Authors: Krauss C. M. , Liptak K. J. , Aggarwal A. , Robinson D. 
Published: June 2005

AbstractWe describe a subtle familial chromosome rearrangement which involves 7q36 and 9q34. The clinical manifestations of 3 apparently balanced individuals with presumed identical translocation breakpoints are presented. In addition, the phenotypes of 2 cytogenetically unbalanced sibs in the same nuclear family are compared.
Partial deletion of 14q and partial duplication of 14q in sibs: Testicular mosaicism for t(14q;14q) as a common mechanism
Authors: Masada Christopher T. , Olney Ann Haskins , Fordyce Renee , Sanger Warren G. 
Published: June 2005

AbstractThe propositus and a subsequently born sister presented with multiple congenital anomalies. Chromosome analyses were performed initially on peripheral blood lymphocytes from the propositus and his parents: the propositus was found to have a deletion of chromosome 14 (q32.11‐>qter); the parents' chromosomes were normal. When the sister of the propositus was born, she was determined to have a duplication of an equivalent segment of 14qter. Chromosome studies on the parents' fibroblasts demonstrated no structural abnormality or mosaicism. The parents have an older, phenotypically normal, healthy daughter, which supports mosaicism for intragonadal t(14;14)(q32.11;q32.33) in one parent. Chromosome polymorphism comparisons show that the normal number 14 chromosome in the propositus and his sister was inherited from the mother, thus indicating paternal testicular mosaicism. Clinical findings are compared to those of other reported cases of deletion 14q and duplication 14q.
Prevalence of familial hypercholesterolemia in Johannesburg Jews
Authors: Seftel Harry C. , Baker Sheila G. , Jenkins Trefor , Mendelsohn Dennis 
Published: June 2005

AbstractThe prevalence of heterozygous familial hypercholesterolemia was determined in a representative sample of 403 young Jewish men resident in Johannesburg, South Africa. Preliminary screening by measurement of serum total cholesterol demonstrated that 25 of them had levels ⩾ 7.5 mmol/1 (290 mg/dl). On the basis of subsequent clinical, biochemical, and family studies, 6 men, or about 1 in 67 of the total sample, were considered to be heterozygotes. This very high prevalence, about 7 times greater than that found in other Caucasian populations, is probably related to founder effect. It may help to explain the high frequency of coronary heart disease in Johannesburg Jews.
Microtia and associated anomalies: Statistical analysis
Authors: Kaye Celia I. , Rollnick Beverly R. , Hauck Walter W. , Martin Alice O. , Richtsmeier Joan T. , Nagatoshi Konrad 
Published: June 2005

AbstractTerms such as oculoauriculovertebral dysplasia, Goldenhar syndrome, and hemifacial microsomia have been used to describe microtia with specific combinations of other craniofacial anomalies. Microtia is also observed with anomalies of postcranial structures. Statistical studies were performed on 297 patients with microtia and other anomalies to identify subgroups of patients representing previously described or new associations. Analysis identified 15 subgroups of patients with specific patterns of anomalies. Log‐linear analyses of cranial and postcranial variables demonstrated a positive association between mandibular hypoplasia and cervical spine fusion, which was, in turn, positively associated with other spine anomalies (P < .02) and other skeletal anomalies (P < .001). Although unilateral microtia was commonly observed with mandibular hypoplasia, mandibular hypoplasia was negatively associated with bilateral microtia. Many of the associated anomalies were of structures not derived from the 1st and 2nd branchial arch neural crest. However, most associated anomalies were of structures derived from migratory cell populations or populations undergoing differentiation prior to migration between the 19th and 24th day post‐fertilization (neural crest, ectodermal placode, mesoderm, surface ectoderm). These findings suggest that many different cell populations may be disturbed in the pathogenesis of microtia in association with other anomalies. The timing of the pathogenetic event may determine the specific pattern of associated anomalies.
Third case of Pfeiffer‐type cardiocranial syndrome
Authors: Stratton Robert F. , Parsons David S. 
Published: June 2005

AbstractWe report on a third child with a newly recognized craniosynostosis syndrome involving the sagittal suture. Additional findings not related to the abnormal head growth include micrognathia with limited mouth opening, tracheobronchial anomalies, congenital heart defects, microphallus, cryptorchidism, and growth and mental retardation.
Tay‐Sachs disease carrier screening: Follow‐up of a case‐finding approach
Authors: Clarke J. T. R. , Skomorowski M. A. , Zuker S. 
Published: June 2005

AbstractIn order to determine the status of Tay‐Sachs disease carrier identification in Toronto, Canada, since a change was made in 1978 from testing in the context of large‐scale community clinics (up to 1,200 individuals tested in 1 day) to a case‐finding approach to screening, a sample of area Jews was surveyed by questionnaire. The results indicated that a trend has developed for individuals at risk to delay testing until pregnancy when carrier detection is technically more difficult and the time available for retesting and organizing prenatal diagnosis is limited. If the trend continues, the full potential of chorionic villus sampling (CVS) for the prenatal diagnosis of the disease will be difficult to realize.
Counseling and decision dilemmas associated with fetal blood sampling
Authors: Ulm Janet E. , Shah Dinesh M. , Dev Vaithilingam G. , Phillips John A. 
Published: June 2005

AbstractCounseling before fetal blood sampling via cordocentesis is more difficult than that done before amniocentesis because 1) a fetal anomaly has been detected or is very likely, 2) the cordocentesis procedure may have a higher risk than does amniocentesis, and 3) the gestational age is frequently advanced before referral. These factors result in counseling and decision dilemmas that include that 1) the advanced gestational age may preclude the option of termination, 2) fetal prognosis may be poor despite normal cytogenetic results, and 3) the benefit of a diagnosis to provide indications for various delivery options must be weighed against the psychological burden of documenting a chromosome abnormality far in advance of delivery. Thus, counseling before cordocentesis requires engaging the couple in decision making regarding potential management of the pregnancy as a prerequisite to choosing or declining the procedure.
Genetic effects in Brazilian populations due to consanguineous marriages
Authors: Freire‐Maia Newton 
Published: June 2005

AbstractEstimates of “relative risks” and “attributable risks” are presented for two Brazilian regions with the lowest (F=0.00030) and the highest (F=0.00395) inbreeding levels of the country, and for the whole country (F=0.00088). The abolition of all consanguineous marriages (from second cousins up to and including uncle‐niece/aunt‐nephew marriages) in Brazil would eliminate only about 0.22, 3.05, and 0.65% of the “total damage,” respectively. “Total damage” is defined as including abortions, miscarriages, stillbirths, infant‐Juvenile mortality (up to the age of 20 years), and anomalies in the survivors. The reduction of prenatal damage would be 0.11, 1.46, and 0.31%, and that of postnatal damage would be 0.49, 6.65, and 1.36%, respectively.
Fetal loss rate after chorionic villus sampling and subsequent amniocentesis
Authors: Brandenburg H. , Jahoda M. G. J. , Pijpers L. , Reuss A. , Kleyer W. J. , Wladimiroff J. W. 
Published: June 2005

AbstractHere we review a group of 82 patients who underwent both chorionic villus sampling (CVS) and amniocentesis in the same pregnancy during the period May 1984–May 1988. A fetal loss rate of 2.5% is documented. This is not essentially different from the sum of fetal loss rates following each of the procedures separately (CVS, 1.9%; amniocentesis, 1.0%) established during the same period.
Treatment of the embryo and the fetus in the first trimester: Current status and future prospects
Authors: Schulman Joseph D. 
Published: June 2005

AbstractAn effective treatment is now available to prevent the masculinization of female fetuses with congenital adrenal hyperplasia. Some vitamin‐responsive inborn errors of metabolism can be treated prenatally by cofactor administration. Maternal phenylketonuria and maternal diabetes mellitus and the prevention of recurrent neural tube defects are also areas where therapeutic advances are being made. It may be possible to carry out chorionic villi sampling before 8 weeks menstrual age if appropriate catheters and guidance systems (probably transvaginal ultrasound) are used. First trimester diagnosis and treatment of fetal cardiac arrhythmias could prove to be very important, as they are later in pregnancy. Future possibilities for progress include gene microinjection into zygotes, classification and treatment of fresh embryos, biopsy and frozen storage of genetically at‐risk embryos, and therapy of preimplantation embryos by chimera formation or gene introduction by retroviruses.
Micromanipulation of embryos and germ cells: An approach to gene therapy?
Authors: Gordon Jon W. 
Published: June 2005

AbstractRecent advances in mammalian gamete and embryo micromanipulation have stimulated the scientific and medical communities, and to some degree the public at large, to become aware that treatment of genetic disease by direct alteration of the genetic code may soon be possible. Because these micromanipulation techniques result in modification of the genotype at the earliest stages of development, such “gene therapy” affects not only the conceptus itself but also its germ cells. Thus such genetic modifications are heritable and can be transmitted indefinitely to succeeding generations of progeny. In the presentation, both narrow and broad definitions of gene therapy will be considered with respect to the techniques upon which they are based, their potential for treatment of genetic disease, and their current feasibility.
Spondylocostal dysostosis: Dominant type
Authors: Lorenz Peter , Rupprecht Edgar 
Published: June 2005

AbstractWe report on a father and daughter who have spondylocostal dysostosis. The girl's ribs are more severely abnormal than those of the 2 previously reported cases of dominant spondylocostal dysostosis and are rather suggestive of the autosomal recessive type. The differential diagnosis of both forms is discussed.
Chromosome abnormality in Kallmann syndrome
Authors: Best Lyle G. , Wasdahl Walter A. , Larson Linda M. , Sturlaugson Jean 
Published: June 2005

AbstractWe report on an individual with Kallman syndrome (KS) and a balanced de novo translocation (7;12)(q22,q24). None of 6 full sibs, 3 halfsibs, or parents have KS or this chromosome translocation. This is the only known report of KS with a chromosome abnormality. This may represent a spurious association or genetic heterogeneity vis‐a‐vis the reported linkage of KS to the steroid sulphatase gene on the X chromosome. The pathophysiology and genetics of KS are discussed.
Neural tube defects: Are neurulation and canalization forms causally distinct?
Authors: Seller Mary J. 
Published: June 2005

AbstractNeural tube defects (NTD) may be separated according to the overall location and probable embryological origin into 2 groups: upper or neurulation defects, and lower or canalization defects. Evidence as to whether these 2 forms are causally related or distinct was sought from 2 sources. Families with more than one NTD individual were studied to examine whether there was concordance within sibships for these 2 types of lesion. Seven of the 38 sibships were discordant (18%). Eight of the 10 cases of NTD that had arisen despite maternal periconceptional vitamin supplementation were neurulation defects and 2 were canalization defects. Both observations suggest that upper and lower types of NTD are causally related, and offer no support for the suggestion that they are distinct.
Acrocallosal syndrome
Authors: Hendriks Han J. E. , Brunner Han G. , Haagen Ton A. M. , Hamel Ben C. J. 
Published: June 2005

AbstractAcrocallosal syndrome is an autosomal recessive disorder of brain malformation and complex polydactyly. We report on an additional patient with this disorder. It is suggested that increased birth weight and cerebellar hypoplasia occur in acrocallosal syndrome. The finding of an extra bone within the anterior fontanel in our patient suggests similarity to the Xt mouse mutant, which is homologous to Greig syndrome in man. This provides additional support for the hypothesis of allelism of the Greig and acrocallosal syndromes.
Red cell superoxide dismutase, glutathione peroxidase and catalase in down syndrome patients with and without manifestations of Alzheimer disease
Authors: Percy Maire E. , Dalton Arthur J. , Markovic Vjerica D. , McLachlan Donald R. Crapper , Hummel Jocelyn T. , Rusk Ann C. M. , Andrews David F. 
Published: June 2005

AbstractThe activities of red blood cell enzymes that scavenge the superoxide radical and hydrogen peroxide were measured in severely to profoundly retarded adult Down syndrome (DS) patients with and without manifestations of Alzheimer disease (AD), and control individuals matched for sex, age, and time of blood sampling. Cu,Zn superoxide dismutase (SOD‐1) and glutathione peroxidase (GSHPx) activities were significantly elevated (1.39‐fold and 1.24‐fold, respectively) in DS individuals without AD. When an adjustment was made for the SOD gene dosage effect, DS patients with AD manifestations had significantly lower SOD levels than the matched control individuals. In contrast, DS patients with and without AD had a similar elevation in GSHPx (an adaptive phenomenon). The mean catalase (CAT) activity was no different in DS and control individuals; however, in a paired regression analysis, DS patients without AD had marginally lower CAT activity than control individuals, whereas DS patients with AD had slightly but not significantly higher CAT activity. Thus, AD manifestations in this DS population are associated with changes in the red cell oxygen scavenging processes.
New acrofacial dysostosis syndrome in 3 sibs
Authors: Rodríguez José Ignacio , Palacios José , Urioste Miguel 
Published: June 2005

AbstractWe performed clinical and autopsy studies on 3 sibs with an acrofacial dysostosis (AFD) syndrome. All 3 died neonatally from respiratory complications derived from their severe mandibular hypoplasia. They presented a malformation syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb anomalies, shoulder/pelvis girdle hypoplasia, and cardiac and CNS malformations. This syndromal form of AFD could represent a distinct entity with autosomal‐recessive inheritance. Its delineation from other AFD syndromes is discussed.
Factors influencing the reproductive decision after genetic counseling
Authors: Frets Petra G. , Duivenvoorden Hugo J. , Verhage Frans , Niermeijer Martinus F. , van de Berge Sophie M. M. , Galjaard Hans 
Published: June 2005

AbstractHere we report a follow‐up study involving interviews with 164 couples 2–3 years after genetic counseling to assess the influence of various factors on their reproductive planning. The results show that the desire to have children and the absence of personal experience with the disorder (no close relative being affected) are important single factors for the decision to opt for having children after genetic counseling.The magnitude of the genetic risk is of relative importance in reproductive planning. Seventy percent of the couples with a high genetic risk (>15%) opted for having children. When the disorder was perceived as severe and the risk was interpreted as high, 72% opted for having children. The availability of prenatal diagnosis became important only in combination with a high genetic risk (>15%). Forty‐seven percent of the couples with a high genetic risk refrained from having children when prenatal diagnosis was not available. In the absence of prenatal diagnosis, couples who had an affected child were more cautious about trying again than those who did not—50% versus 14% decided to abstain.This study has provided some insight into the complexity of reproductive decision‐making after genetic counseling. The findings may help genetic counseleors and clinical geneticists understand and support counselees in their decision‐making process, which is “multi‐factorial”.
Attitudes of at‐risk and affected individuals regarding presymptomatic testing for autosomal dominant polycystic kidney disease
Authors: Sujansky Eva , Kreutzer Susan Beeler , Johnson Ann M. , Lezotte Dennis C. , Schrier Robert W. , Gabow Patricia A. 
Published: June 2005

AbstractOne hundred forty‐one individuals with autosomal dominant polycystic kidney disease (ADPKD) and 137 at‐risk individuals from 107 kindreds answered a questionnaire to determine knowledge and attitudes about ADPKD and the use of gene linkage analysis for prenatal and postnatal presymptomatic diagnosis. Both groups of individuals displayed a high level of knowledge about the disease. Although 87% of affected individuals considered the recurrence risk of ADPKD high, only 11% of ADPKD did not have children for this reason after diagnosis. Ninety‐seven percent of at‐risk individuals would utilize gene testing for themselves. Eight‐eight percent of ADPKD and 89% of at‐risk individuals would test offspring (not significant, NS) and 65% of ADPKD and 50% of at‐risk individuals between the ages of 18 and 40 would use prenatal testing (NS). Only 4% of ADPKD and 8% of at‐risk individuals between the ages of 18 and 40 would terminate a pregnancy for ADPKD. A greater percentage would terminate a pregnancy for a serious medical problem. The factors influencing presymptomatic testing were analyzed. The data suggest that presymptomatic testing will not substantially modify incidence of ADPKD since it may only occasionally alter reproductive plans.
Pyridoxine‐unresponsive homocystinuria with an unusual clinical course
Authors: Cochran Frederick B. , Sweetman Lawrence , Schmidt Kathleen , Barsh Greg , Kraus Jan , Packman Seymour 
Published: June 2005

AbstractProgressive premature atherosclerosis and associated thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, thrombosis is rarely the predominant or presenting manifestation leading to the diagnosis of homocystinuria. We report on an otherwise asymptomatic teenage boy of normal intelligence who had a superior sagittal sinus thrombosis documented by CT and MRI scans. He presented with pneumothoraces, papilledema, and transient right hemiparesis. He subsequently developed empyema and necrotizing pneumonia as well as deep venous thromboses. The diagnosis of pyridoxine‐unresponsive homocystinuria was made on the basis of clinical chemistry analyses, enzyme assay, and clinical trial. He has remained symptom‐free under treatment with betaine and methionine restriction. We suggest that there exists a subset of patients with pyridoxine‐unresponsive homocystinuria who are at risk for thromboembolism, but who may remain undiagnosed because of an otherwise mild clinical course.
Prenatal diagnosis of Pallister‐Killian syndrome
Authors: Soukup S. , Neidich K. 
Published: June 2005

AbstractWe describe a case of Pallister‐Killian syndrome ascertained by routine amniocentesis as i(12p). The i(12p) was also found in 4 tissues of the aborted fetus, where various degrees of mosaicism 46/47 + i(12p) were seen. Although autopsy showed no major malformations, some of the minor anomalies of Pallister‐Killian syndrome were found.
Double chromosome anomaly: Interstitial deletion 5q and reciprocal translocation (1;11) (p22;q21)
Authors: de Michelena María I. , Villacorta Jorge , Chávez Julio 
Published: June 2005

AbstractWe describe a girl with multiple congenital abnormalities and developmental delay; her karyotype showed an apparently balanced translocation between the short arm of chromosome 1 and the long arm of chromosome 11, and an interstitial deletion of the long arm of chromosome 5 (q15q31). The clinical findings are compared with those described in other cases of 5q deletion, and the origin of the chromosome rearrangements is briefly discussed.
Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: Paradigm of Pitfalls in phenotypes
Authors: McGill James J. , Mettler Gabrielle , Rosenblatt David S. , Scriver Charles R. 
Published: June 2005

AbstractExcess homocysteine in body fluids has been implicated as a factor in the pathogenesis of occlusive vascular disease (peripheral and cerebrovascular arterial disease, and perhaps coronary artery disease). Heterozygotes for inborn errors of homocysteine metabolism (transsulfuration or remethylation pathways) are much more frequent than are homozygotes/compounds. If heterozygotes are at increased risk (a question not addressed here), it is of interest to know whether they can be identified consistently by a “screening” measurement of blood homocyst(e)ine. We used hyperhomocyst(e)inemia (cystathioninemia β‐synthase deficiency) as a test case. From reviews of metabolite values in blood samples either fasting (11 articles) or after a methionine load (8 articles), and of measures of enzyme activity (12 articles), it is apparent that (1) The heterozygous phenotype cannot be identified consistently by any single measure (there is overlap with normal values); and (2) the exaggerated gene dosage effect (negative allelic complementation) present in most heterozygotes does not assist their classification. The failure of enzyme assay to distinguish heterozygotes consistently (relative to normal values) may reflect allelic heterogeneity. The failure of metabolic values to identify heterozygotes consistently reflects the local and global properties of the homeostatic system controlling the homocysteine pool size. The problem described here is a particular example of a general one in physiological and medical genetics, namely detection of heterozygotes for recessive alleles, affecting metabolic homeostasis, for purposes of medical intervention and for genetic counselling.