bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gentics and linkage relationships of the C3 polymorphism: discovery of C3‐Se linkage and assignment of LES‐C3‐DM‐Se‐PEPD‐Lu synteny to chromosome 19
Authors: Eiberg H. , Mhore J. , Nielsen Staub , Simonsen N. 
Published: July 2010

The C3 complement system was examined in our Danish material of normal families, which had earlier been examined for 59 marker systems, and in a myotonic dystrophy family material. A total of 8 alleles were recognized, with allele frequencies as follows: C3*S = 0.7902, C3*F = 0.2018, C3*S rare (3 lumped together) = 0.0036, C3* F rare (2 lumped together) = 0.0024; a silent allele was recognized in three families and its frequency to C3*QO = 0.002. The distribution of unrelated inviduals did not deviate significantly from the Hardy‐ Weinberg expectation, it was not siginicantly different between the sexes, and the for none of the mating types was there any significant deviation from the expected ratios of children.As to linkage relationships of C3 with market systems and with myotonic dystrophy, there was evidence (most of it first presented at the 6th International Congress of Human Genetics, Jerusalem 1981) for synteny with ABH secretion (Se): C3‐Se (males) &#x007a;̂= 4.35, θC = 0.12 and with Lewis secretion (LES): C3‐LES (males &#x007a;̂= 3.63, θC = 0.04). There were indicative or suggestive lod scores for Se‐PEPD (males & females &#x007a;̂= 2.41, θC = 0.00), C3‐Lu (&#x007a;̂= 1.88, θC = 0.15), C3‐DM (&#x007a;̂= 1.69, θC = 0.06) and PEPD‐C3 (male &#x007a;̂= 0.95, θC = 0.17). The most likely sequence of these 6 systems would appear to be LES‐C3‐DM‐(Se‐PEPD)‐Lu and the synteny would reside on chromosome 19.
Is there a predisposition for meiotic non‐disjunciton that may be detected by mitoitc hyperploidy?
Authors: Staessen C. , Maes A. M. , Kirsch‐Volders M. , Susanne C. 
Published: July 2010

The aneuploidy frequencies have been stuided in vitro in lymphocytes from couples with recurent abortions, from parents of a trisomic child and from control couples with at least two normal children; c‐heterochromatin variants have been analysed on the same samples by length measurements.A significant increase of hyeperploid cells has been observed in the lymphocytes from parents of a trisomic and couples with recurrent abortions as well. However, no consistent correlation has been found so far between c‐heterochromatin varients and an increase of aneuploidy.
Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates
Authors: Stengel‐Rutkowski S. , Warkotsch A. , Schimanek P. , Stene J. 
Published: July 2010

This is the case report of a patient with Wolfs syndrome having a monosomy 4pter→p15.3 and an additional trisomy 8pter→p22, derived from a maternal balanced translocation t(4;8)(p15.3;p22) after 2:2 disjunction and adjacent‐1 segregation. The patient's phenotype is presumably slightly modified by the trisomic 8p segment. Literature analyses indicate that phenotypic “hybrids” with traits of monosomy 4p and of other autosomal segment trisomies exist.The dermatoglyphics of the patient were not highly characteristic for Wolfs syndrome. Also the dermatoglyphics of the balanced translocation carriers were unspecific and did not reflect the carrier status. Pedigree analyses of 46 reported families with reciprocal translocations involving the short arm of chromosome 4 show a high risk (20.5%±4.6%) for unbalanced offspring (trisomy or monosomy 4p) after 2:2 disjunction and adjacent‐1 segregation, if the breakpoint in the recipient chromosome is terminal and the resulting imbalance concerns the 4p segment only. It is considerably lower (4.5%±2.5%) if the breakpoint in the recipient chromosome is subterminal, as in the reported case, and the resulting imbalance concerns other chromosome segments additionally to the 4p segment. In both instances, the risk decreases with increasing segment length. The risk for unidentified abortions, stillbirths or neonatal deaths is also high in these families (about 40%). The frequency of progeny with balanced compared to progeny with normal karyotype corresponds to the expected 50% for alternate segregation.
Control of homozygous β‐thalassemia by carrier screening and antenatal diagnosis in Sardinians
Authors: Cao A. , P<sc>intus L. , Lecca U. , Oixa G. , Cossu P. , Rosatelli C. , Galanello R. 
Published: July 2010

This paper reports the present results of an ongoing program aimed at preventing homozygous β‐thalassemia by means of heterozygote screening and antenatal diagnosis in the Sardinian population.Screening based on the knowledge of carrier frequency and types of thalassemia prevalent in this population was designed to discover all heterozygotes except the few silent β‐thalassemia carriers. Most of the couples at risk were informed and accepted testing. Information was conveyed by mass media, midwives and marriage registry offices. Antenatal diagnosis was accepted by the majority of the couples counselled. The results of antenatal testing were very accurate. There was only one misdiagnosis out of 949 pregnancies tested. This risk of fetal loss was 7.5%. The program was highly effective, as shown by the decline of the incidence of the homozygous state from 1:205 live births in 1976 to 1:557 in 1981.
The impact of large Y chromosome on pregnancy, foetus and birth
Authors: Videbech P. , Nielsen J. , Wohlert M. , Eriksen G. , Hansen K. B. , Hvidman L. , Krag‐Olsen B. 
Published: July 2010

In a current investigation of children born in the Arhus area (Denmark) chromosome examinations were made in6, 691 newborns. Of these children, 170 boys had a large Y chromosome (2.6%). The present material was examined using a bi‐variate stratified analysis to eliminate social and simple biological factors that could act as confounders.No increased frequency of malformations was found, and birth weight and length was nearly equal in the probands and the controls. A significantly increased frequency of prostaglandin stimulation of labour was found for the mothers of the Yq + boys. Differencies in the frequency of mechanical disproportion or abnormal presentation could not explain this. The Yq + boys suffered more frequently from intrauterine asphyxia leading to acute Caesarean section. This finding cannot be explained by long‐standing placenta problems alone.A possible mechanism which could link these findings together is suggested, and it is concluded that the boys with Yq + most probably should be regarded as being at a certain risk at the time of birth.
Fetal mortality in oral cleft families (IX): factors relating to the occurrence of sporadic clefts
Authors: Dronamraju Krishna R. , Wakim Kahlil G. , Smith David J. , Bixler David 
Published: July 2010

Pedigree data on 854 probands with cleft lip and/or cleft palate from the State of Indiana are presented. These include 123 probands with cleft lip alone (CL), 453 with cleft lip and palate (CLP), and 278 with isolated cleft palate (CP). Probands and families were interviewed at the Indiana University Medical Center during the years 1962–1980. Among features of special interest are an excess of bilateral CLP (46% of all CLP cases) and a significantly greater number of older mothers and fathers (over 34 years old) than in the general population. An apparent increase in the proportion of sporadic cases with time may be due to bias in ascertainment.It is suggested that the increased proportions of more severe clefts and older parents are among several factors which contribute to the incidence of fetal mortality in a cleft population. The association of fetal mortality with liability to clefting introduces a more precise way to define a sporadic cleft. That is, a truly sporadic cleft is one conceived as a single occurrence event and has survived to become a liveborn cleft child whereas other apparently sporadic cleft individuals represent the surviving cleft in a sibship in which fetal mortality has eliminated all other cleft offspring already conceived.This observation has applications to the collection and interpretation of genetic pedigree data for clefts as well as many other genetic conditions.
Early clinical signs in Coffin‐Lowry syndrome
Authors: Vles J. S. H. , Haspeslagh M. , Raes M. M. R. , Fryns J. P. , Casaer P. , Eggermont E. 
Published: July 2010

Two unrelated patients with Coffin‐Lowry syndrome are described. The main characteristics of a typical face, thick hands with tapering fingers and a transverse hypothenar crease, general hypotonia with extensible joints made diagnosis possible before the age of 6 months. A persistent large anterior fontanel beyond the age of two years may be another associated finding. Retarded bone age, coarsity of the face and skeletal malformations considered characteristic in adult patients were not present.Early recognition of Coffin‐Lowry syndrome is important for genetic counseling and prevention of severe skeletal malformations.
The fragile X syndrome: A study of 83 families
Authors: Fryns J. P. 
Published: July 2010

The present report summarizes the experience on the mar(X) syndrome in a total of 157 male patients (44 prepubertal and 113 postpubertal) ascertained through 83 index patients from 83 families under investigation.1. In one third of the families pedigree data were consistent with X‐linked recessive inheritance. In the further two thirds of the families the presenting symptom was familial mental retardation with a mentally retarded mother, or mental subnormality with hyperkinetic behaviour in the male patient.2. No more than 60% of the adult males presented the typical clinical triad (mental retardation ‐long face ‐ megalotestes). The most characteristic finding in the mar(X) boy is the psychological profile with severe hyperkinetism, hypersensitivity, handbiting and autistic features in some of them.3. In 4 of the 27 large mar(X) pedigrees strong evidence was present of a possible transmission of the mar(X) through normal males.4. The high incidence of mental subnormality in the female offspring of heterozygote carriers, and the relationship between mental status, phenotype, age and expression of the mar(X) in different culture conditions is discussed.
Duplication or insertion in 15q11–13 associated with mental retardation ‐short stature and obesity ‐ Prader‐Willi or Cohen syndrome?
Authors: Fuhrmann‐Rieger Annemare , Köhler Angelika , Fuhrmann W. 
Published: July 2010

Difficulties of differential diagnosis between Prader‐Willi Syndrome and Cohen Syndrome are demonstrated in a 12–year‐old girl with obesity and mental retardation.Cytogenetic studies showed an apparently supernumerary band on chromosome 15 in the proximal region q11‐13.Both parents have a normal karyotype.The aberrant chromosome was derived from an apparently normal paternal chromosome.
Oro‐facio‐digital syndromes I and II: radiological methods for diagnosis and the clinical variations
Authors: Annerhn G. , Arvidson B. , Gustavson K‐H. , Jorulf H. , Carlsson G. 
Published: July 2010

In view of the different modes of inheritance and the different prognoses of the two oro‐facio‐digital syndromes, type 1 (OFD‐I) and type 2 (OFD‐II), it is important to establish a correct diagnosis in these patients.In this report two new patients with the OFD‐I syndrome are presented. One of them (Case 1) had multiple congenital malformations and never made any mental contact. She died at the age of four months and autopsy of the brain revealed abnormalities typical of the syndrome, which are discussed. The other patient (Case 2) has so far had normal mental development. Although these two patients were affected to a very different degree, they both presented the clinical and radiological characteristics of the OFD‐I syndrome.These two patients and previously reported cases of the OFD‐I and OFD‐II syndromes were compared with a patient with the OFD‐II syndrome (Case 3), a patient reported earlier who is undergoing follow‐up.The radiological features of the skeleton in the two syndromes are presented. The irregular mineralization of the hands and feet characteristic of OFD‐I, but not of OFD‐II, seems to offer a good opportunity to distinguish between these two syndromes. It is suggested that this finding is pathognomonic for the OFD‐I syndrome.
The relative risk for standard 21 trisomy has not increased in young mothers in Belgium, 1960–1978
Authors: Evers‐Kiebooms G. , Vlietinck R. , Berghe H. van den 
Published: July 2010

In the present investigation we directly studied the constancy of the relative risks for standard 21 trisomy in Belgium during the period 1960–1978.The relative risk for standard 21 trisomy in different maternal age‐groups, as compared to 20–24 years and 40–44 years remained remarkably constant during the period under investigation. The increasing percentage of children with standard 21 trisomy born to younger mothers does not result from an increased risk for mothers of this maternal age‐group, but results from the general shift towards a younger maternal age at birth for the total population of births in Belgium.
Computed tomographic findings in manifesting carriers of Duchenne muscular dystrophy
Authors: Visser Marianne de , Verbeeten Bernard 
Published: July 2010

Clinical and computed tomographic (CT) findings in 3 manifesting carriers of Duchenne muscular dystrophy are reported.CT proved to be an important adjunct to the clinical examination: in all our 3 cases a decrease in density was found in various non‐paretic muscles.
Hirschsprung disease: a genetic study
Authors: Garver Kenneth L. , Law John C. , Garver Bettylee 
Published: July 2010

This study examines the association of Hirschsprung disease with Down syndrome and calculates the recurrence risk for families of Hirschsprung patients. Information was collected from 134 histologically diagnosed patients with Hirschsprung disease, from Children's Hospital in Pittsburgh, PA between 1950 and 1977. One hundred and three patients had short segment Hirschsprung disease which is defined as involvement up to and including the sigmoid colon. Thirty‐one patients had the long segment type with aganglionosis extending in some cases to the small intestine.As in other studies, we found a significant association between Hirschsprung disease and Down syndrome in that 5.9% of probands had both. Mean maternal age of cases with both Hirschsprung disease and Down syndrome (33.5 years) was significantly different from controls (26.7 years) and non‐Down syndrome Hirschsprung patients (26.6 years). The overall sex ratio for Hirschsprung disease was 3.6. Recurrence risks were dependent on proband sex and the degree of aganglionic involvement.
Usher syndrome in four Norwegian counties
Authors: Grøndahl Jan , Mjøen Svein 
Published: July 2010

Among 89 probands selected for tapeto‐retinal degeneration, 18 (20%) were given the diagnosis of Usher syndrome. Among the relatives of the probands another 10 cases of Usher syndrome were found.The distribution on type diagnoses was: Usher syndrome type I: 14 cases, type II: 10 cases and type III: four cases. The pattern of inheritance was autosomal recessive for 12 families, and the remaining six probands were solitary cases without consanguinity between the parents.There was a high intrafamiliar correlation with respect to hearing function, indicating genetic heterogeneity in Usher syndrome.Obligate heterozygotes did not demonstrate heterozygote manifestation.One man with Usher syndrome type I was psychotic, the remaining 27 did not demonstrate serious psychic disturbances. Atactic gait was not observed, though vestibular response was abolished in three patients with Usher syndrome type I. Three patients with type II and one person with type III had normal vestibular response.The prognosis for visual function was not highly correlated to the type diagnosis or to the age when hemeralopia was first noticed. Visual function was good before 30 years of age and bad in most patients after the age of 50.
First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid α‐glucosidase in chorionic villous biopsy using antibodies
Authors: Grubisic A. , Shin Y. S. , Meyer W. , Endres W. , Becker U. , Wischerath H. 
Published: July 2010

Prenatal diagnosis of glycogenosis type II was performed by direct assay of acid α‐glucosidase (EC 3.2.1.20) in chorionic villous biopsy obtained by transcervical cannula aspiration from a pregnancy at risk in the 10th week of gestation. The exact value of the enzyme activity estimated by the use of antibody preparations for purified human liver acid α‐glucosidase was in the heterozygous range, and so the homozygous enzyme deficiency could be excluded. The subsequent analysis of cells cultured from amniocentesis sampling in the 18th week of gestation resulted in a similar outcome. The study with antibodies showed that in 23 control chorionic villi obtained during gestational ages between 7–13 weeks, 1–15% of the total a‐glucosidase activity at pH 4.0 were due to renal or neutral enzyme. This indicates that it may be important to employ antibodies for prenatal diagnosis using chorionic villous sampling.A healthy and unaffected boy was born. The biochemical values obtained from an umbilical blood specimen were in accordance with the results of the prenatal diagnosis.
Copper‐measurement in a muscle‐biopsy. A possible method for postmortem diagnosis of Menkes disease
Authors: TØNNESEN T. , Müller‐Schauenburg G. , Damsgaard E. , Horn N. 
Published: July 2010

A 5‐month‐old boy showed severe delay in mental and motor development. His hair was normal. He died at 18 months from bronchopneumonia. Autopsy of the brain revealed meningo‐cerebral angiodysplasia with tortuous vessels at the surface of the brain. This raised a suspicion of Menkes disease.A muscle‐biopsy, the only remaining tissue from the patient, showed an increased copper‐content, thus corroborating the suspicion of Menkes disease. Copper‐uptake studies on 2 independent repeatedly tested fibroblast‐cultures from the mother gave normal values in 4 and elevated levels in three tests. Such a pattern is often seen in carriers of Menkes disease. Furthermore one of the test values was above the critical limit. Just one value above this limit for females from families with Menkes disease will unequivocally classify a woman as a carrier irregardless of her genetic risk.This is to our knowledge the first time copper‐measurements in tissues have been used to establish a post‐mortem diagnosis of Menkes disease.
Gonadoblastoma and Y‐chromosome fluorescence
Authors: Lukusa T. , Fryns J. P. , Berghe H. van den 
Published: July 2010

In this report we summarize our experience in 4 patients with 45, X/46, XY, one patient with 45, X/47, XYY mosaicism, and one patient with 46, XY karyotype and ambiguous external genitalia. In the 3 patients with a fluorescent Y‐chromosome, the development of one or two gonadoblastomas was found, independent of the age of the patients at the time of examination. In the 3 patients with 45, X/46, XYnf mosaicism no gonadoblastoma was detected. This finding prompted us to review the data on patients reported with 45, X/46, XYnf mosaicism.Up to now, no patient with well documented 45, X/46, XYnf mosaicism and convincing evidence of development of gonadoblastoma has been reported. These data seem to confirm that alterations of the characteristic distal fluorescence of Yq may protect the dysgenetic gonad against tumoral degeneration in patients with 45, X/46, XY mosaicism. Possible mechanisms responsible for these changes in the oncogenic potential of Yq in relation with the Y chromosome fluorescence are discussed.
Triphalangeal thumb and brachy‐ectrodactyly syndrome
Authors: Silengo M. Cirillo , Biagioli M. , Bell G. Lopez , Bona G. , Franceschini P. 
Published: July 2010

Two patients with triphalangeal thumbs‐ectrodactyly syndrome are described.The first case is a 4‐year‐old female with triphalangeal thumbs, preaxial Polydactyly with rudimentary Polydactyly of the 3rd finger of the right hand and ectro‐syndactyly of feet. Her stillborn sister had triphalangeal thumbs and ectrodactyly of feet. The mother has triphalangeal thumbs, brachysyndactyly of the left foot and ectro‐syndactyly of the right one. The maternal grandmother has syndactyly of 1st, 2nd, 3rd toes and hypoplasia of the 3rd toe on the right foot.The second case is sporadic and shows triphalangeal thumbs, preaxial Polydactyly of the right hand and bilateral lobster‐claw feet.Our observations confirm the variability of clinical expression and support the autosomal dominant inheritance of the syndrome.
Pitted enamel hypoplasia in tuberous sclerosis patients and first‐degree relatives
Authors: Lygidaias N. A. , Lindenbaum R. H. 
Published: July 2010

Thirty‐six families with tuberous sclerosis (TS) including 49 affected persons and 68 apparently unaffected first‐degree relatives were examined for dental abnormality. Fifty unrelated controls were similarly examined. Clinically observed multiple enamel pits (pitted enamel hypoplasia) were noted in 71% of persons with typical TS and in one out of 10 “atypical” cases.Enamel pits were rarely seen, and in small numbers only, in the control series, and they were rare in the otherwise apparently normal TS first‐degree relatives. However, one parent and one half‐sib of persons with typical TS, but themselves without other signs of TS, were found to have multiple enamel pits. Examination for pitted enamel hypoplasia should be made in all persons suspected of having TS and in all close relatives; enamel pits are a valuable clinical sign and may identify otherwise unsuspected carriers of the gene within the family.
Relative effect of parental birth weight on infant birth weight at term
Authors: Langhoff‐Roos Jens , Lindmark Gunilla , Gustavson Karl‐Henrik , Gebre‐Medhin Mehari , Meirik Olav 
Published: July 2010

The relations between some hereditary and environmental factors and the variation in infant birth weight were estimated by multiple linear regression analyses on a sample of 276 Scandinavian single term pregnancies.Gestational age explained 10.9%, fetal factors (maternal and paternal birth weights and fetal sex) 7.9%, maternal factors (parity, pre‐pregnancy weight and height) 5.5% and external factors (adjusted weight gain and smoking) 5.8% of the variation in infant birth weight.It is concluded that maternal and paternal birth weights are rather poor predictors of infant birth weight. Together they explain only 5.6% of the variation in infant birth weight at term.
Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH‐B gene dosage effect
Authors: Steinbach P. , Rehder H. 
Published: July 2010

A fetus with tetrasomy for the short arm of chromosome 12 due to a de novo accessory isochromosome i(12p) is described. Involvement of the 12p in this chromosome aberration was suggested by banding analysis and substantiated by detection of a marked increase of LDH‐B in the fetal fibroblasts.The syndrome shown by this fetus includes many of the minor anomalies described for live‐born patients with partial trisomy 12p, and in addition malformations including brachymelia, anal atresia and double kidneys.