bluuebunny/crossref_metadata_2025_split huggingface dataset:
A study of certain traits accompanying some inherited neurological disorders
Authors: Skre H. 
Published: July 2010

Feeblemindedness, dementia, mental disorders, and epilepsy, as well as optic atrophy, tapeto‐retinal degenerations, cataract, ophthalmoplegias, and neural hearing loss were found more frequently in patients suffering from hereditary ataxias (HA) and allied disorders than in the general population.Mental disorders and squints, and in certain instances also ocular myopathy, feeblemindedness, and cataract were found also in non‐HA family members. These traits were particularly frequent in subjects with minor neurological signs previously defined as having an “unspecific neuropathy” (Un), and belonging to kindreds in which autosomal dominant HA segregated. Un clustering in such families is probably caused by other genetic (or other) mechanisms different from that governing the classical HA in the family. These presumably polygenic conditions are thought to be introduced into the HA kindreds by a negative selection.Optic atrophy, tapeto‐retinal degenerations, surdity, epilepsy, and possibly also dementia, were found together with monomeric disease, as well as in the Un subjects, particularly in families with recessive HA. Such traits were equally rare in unaffected family members and controls. Un in such families as well as the traits mentioned may reflect manifestation of HA genes in heterozygotes. They could also reflect the presence of genes linked to the HA genes.
Otodental dysplasia: a “new” ectodermal dysplasia
Authors: Levin L. Stefan , Jorgenson Ronald J. , Cook Roger A. 
Published: July 2010

Otodental dysplasia is an ectodermal dysplasia characterized by abnormal crown morphology of the teeth and sensorineural hearing loss. It was documented in six generations of a kindred of Italian extraction. Thirty‐three of the 119 examined family members were affected. Twenty‐six persons had characteristic dental anomalies combined with a hearing loss. Two had the dental anomalies alone, four had a hearing loss only and one of those with dental anomalies could not be tested for hearing.The teeth of the 29 with dental anomalies had large, bulbous crowns. The normal relationship between cusps and grooves was obliterated. Molars, both deciduous and permanent, were involved. Deciduous canines were large and bulbous. Absence of pre‐molars was documented in 14 of the 29 individuals with abnormal teeth. Those premolars which were present were frequently small. Radiographs of the teeth showed denticles and taurodontia.Twenty‐six of the 30 individuals with a hearing loss had concomitant dental anomalies. Of the four with isolated hearing loss, one was proven to have the syndrome. The remaining three were conjectured to he affected. The age of onset of the hearing deficit ranged from early childhood to middle age.The results of a chi‐square test supported autosomal dominant inheritance. The pleiotropy in this syndrome is postulated to be due to a genetic defect in the neuroectoderm.
The myogenic scapulo‐peroneal syndrome. Muscular dystrophy in the K. kindred: Clinical study and genetics
Authors: Kazakov V. M. , Bogorodinsky D. K. , Skorometz A. A. 
Published: July 2010

Additional study was carried out of six generations belonging to the K. kindred, which were previously investigated by Oransky (1927). Eighteen members of this kindred were studied. In the early stages of the disease a sharp dissimilarity was observed in the pheno‐types in the K. kindred, resulting from different rates of development and varying intensity in the course of the disease, so that it ranges from evident scapulo‐peroneal amyotrophy to cases resembling Landouzy‐Dejerine muscular dystrophy. In the later stages of the disease the clinical data on those affected were noted to be very similar.Muscular dystrophy in the K. kindred has been inherited as an autosomal‐dominant type for five generations. The penetrance of the gene is almost complete. The expressivity of the gene varies from abortive to severe forms of the disease.From the clinical and genetic data available at the present time, is seems that the muscular dystrophy in the K. kindred is one of the varieties (namely, a descending type with a “jump”) of the facio‐scapulo‐limb (or facioscapulohumeral) muscular dystrophy. The scapulo‐peroneal syndrome could be a long stage in the development of the disorder in some members of the K. kindred.As well as muscular dystrophy, some muscle anomalies have been independently inherited in the K. kindred. Apparently, muscular dystrophy and muscle defects are caused by the non‐allele genes; this ensures the independent distribution of these signs among the members of the K. kindred.
Altered isoenzyme patterns of liver α‐L‐fucosidase in cystic fibrosis
Authors: Alhadeff Jack A. , Tennant Linda , O'Brien John S. 
Published: July 2010

The isoenzyme pattern of α‐L‐fucosidase was studied by isoelectric focusing in livers from seven patients with cystic fibrosis and in normal and pathological (GMi‐gangliosidosis, Type II and Sanfilippo disease) controls. The controls had very reproducible patterns consisting of seven isoenzymes of α‐L‐fucosidase with the most neutral form (I) representing a small proportion of the total activity. All seven of the cystic fibrosis livers had altered α‐L‐fucosidase isoenzyme patterns.The chemical relationship of the seven isoenzymes of normal liver α‐L‐fucosidase was investigated using neuraminidase. The five most acidic forms of α‐L‐fucosidase appear to be related to the most neutral form by sialic acid residues.Since the isoenzymes of liver α‐L‐fucosidase appear to be related by sialic acid residues, it is possible that the altered α‐L‐fucosidase isoenzyme patterns found in cystic fibrosis livers may result from aberrant sialylation.
A man with presumptive Y/Y translocation, observed in a forensic psychiatric department
Authors: Wahlstrom Jan , Akesson Hans Olof , Eriksson Bengt 
Published: July 2010

A man charged with a sexual offence was found to have a complex karyotype anomaly, including a Y‐chromosome of aberrant structure. Other features were: very small stature, skeletal deformities and obscure neurological defects. There were no gross psychiatric symptoms, nor was there mental retardation.Q‐ and G‐banding and photometric scanning of the chromosomes of the propositus and his three healthy brothers indicated that the aberrant Y‐chromosome probably arose from a reciprocal translocation, which may be written:Fibroblast cultures differed from the lymphocytes: in the former the majority of the cells lacked the abnormal Y‐chromosome, their karyotype being 45.XO.
Twins in the sibships and parental sibships of women with Turner's syndrome
Authors: Nielsen Johannes , Dahl Gudrun 
Published: July 2010

The twin birth frequency in the sibships of 45 females with Turner's syndrome was 3.7 % for the 21 females with 45,X and 5.7 % for the 24 with other karyotypes. The 5.7 % is significantly higher than the expected mean frequency of 1.4 % in the Danish population from 1900 to 1974. The twin birth frequency in the sibships of the mothers of the 24 females with karyotypes other than 45,X was 4.7 %, which is also significantly higher than expected. The twin birth frequency in the sibships of the 21 mothers of 45,X females did not deviate significantly from the expected frequency, and nor did that of the fathers' sibships.It is concluded that these findings indicate that there might be an association between the increased risk of X chromosome aberration in the progeny due to mitotic non‐disjunction, isochromosome or ring chromosome formation on one hand, and twin formation on the other hand. Such X chromosome aberration and twin formation might thus have some common aetiological factors, and some of the possibilities are discussed.
Genetic lipoprotein variation and lipid levels in man
Authors: Berg Kåre , Hames Curtis , Dahlen Gosta , Frick M. Heikki , Krishan Iqbal 
Published: July 2010

Analyses of 12 population samples have revealed that the total serum cholesterol level is significantly higher in Lp(a+) than in Lp(a–) individuals. The difference is more pronounced in middle‐aged and older people than in young persons, and the difference between Lp(a‐h) and Lp(a–) individuals is larger when LDL cholesterol rather than total serum cholesterol is considered. Lp(a –) individuals have a significantly higher triglyceride level than Lp(a +) individuals.The Lp(a) variation is genetically controlled. Thus, the present study has revealed a small but significant effect of a single, autosomal locus on lipids implicated in atherosclerosis. An association between the phenotype Lp(a +) and coronary heart disease has been demonstrated previously.
Congenital absence of gluteal muscles Report of two sibs
Authors: Carnevale Alessandra , Castillo Victoria del , Sotillo Ana Guía , Larrondo José 
Published: July 2010

A family is described with the following features: 1) Two propositi, a male and a female, with congenital absence of gluteal muscles and with spina bifida occulta. 2) Both parents and two apparently normal siblings with sacral spina bifida occulta. 3) Two siblings of the propositi who died soon after birth, one with anencephaly and the other with a probable spina bifida.Two alternative hypotheses for the etiology of these malformations are suggested: first, the muscular defect could be caused by an autosomal recessive gene independent of the open neural‐tube defects; second, both types of malformations could be due to the same autosomal recessive gene. Then compensatory muscular changes which allow the propositi to walk are discussed.
Autosomal reciprocal translocations and 13/14 translocations: A population study
Authors: Nielsen J. , Rasmussen K. 
Published: July 2010

Fifteen children with autosomal reciprocal translocations were found in an incidence study of chromosome aberrations among 11,148 consecutively liveborn children in a Danish Maternity Hospital (1.34 per 1,000).The segregation rate of the balanced forms was 60 % and that of unbalanced forms 4 %; the frequency of familial cases was 73 %. None of the probands or their relatives who carried the balanced translocation had any physical or mental abnormalities which could be associated with the chromosome aberration.We found two children with unbalanced translocations among the 45 relatives examined, but more studies of unselected population groups are needed before any segregation rates for unbalanced derivatives of autosomal reciprocal translocations can be estimated.We found a significantly higher frequency of abortions, stillbirths and perinatal deaths in the progeny of carriers with the translocation, compared with non‐carriers in the same families.The unbalanced forms of autosomal reciprocal translocations in most cases are probably not compatible with the development of a foetus to a liveborn, healthy child.Fifteen children with 13/14 translocation were found among 11,148 consecutively liveborn children. Incidence, segregation rates and type of translocation are discussed. Fertility and risk for carriers of D/D translocations of producing children with autosomal trisomy are discussed.
Clinical studies in benign (Becker type) X‐linked muscular dystrophy
Authors: Emery Alan E. H. , Skinner Rosalind 
Published: July 2010

Ten extensive families with benign (Becker type) X‐linked muscular dystrophy have been studied, in which there was a total of 67 affected males. Reliable information was available on 41 of these males, 29 of whom were alive at the time of the study.The disorder was characterised by a predominantly proximal myopathy, associated with pseudohypertrophy of the calf muscles, particularly in the early stages of the disease. The early development of contractures was not a feature of the disease in these families and cardiac involvement, when present, was a late manifestation. The clinical findings in these patients are discussed in detail and compared with those in a large unselected group of patients with Duchenne muscular dystrophy. The results indicate that the best criterion for distinguishing between these two disorders is the age of becoming chair‐bound.Electrocardiographic studies revealed no consistent abnormality and no evidence of an abnormal algebraic sum of the R and S waves in lead Vi, as is found in patients with Duchenne muscular dystrophy.Serum creatine kinase levels are significantly elevated, particularly in the early stages of the disease, and in this way preclinical cases may be identified.
Prenatal diagnosis of fucosidosis
Authors: Poenaru Livia , Dreyfus Jean‐Claude , Boue Joëlle , Nicolesco Henriette , Ravise Nicole , Bamberger Jacques 
Published: July 2010

A pregnancy from a family at risk for fucosidosis was monitored. Determinations of fucosidase and mannosidase were performed on the serum and white blood cells of several members of the family, on amniotic fluid and amniotic fluid cells of the fetus at several passages, and on fibroblast cell lines from index cases. The fetus was diagnosed as being free from the disease.This conclusion was confirmed after birth by fucosidase determination in plasma and white cells from cord blood, and in the placenta. Fluctuations in fucosidase activity were observed in extracts from cultured amniotic cells at various passages. The possible causes of this variability are discussed.
The frequency of PKU and hyperphenylalaninemia in Sweden ‐ a study in institutions for the mentally retarded as well as in neonates
Authors: Holmgren Gösta , Larsson Agne , Palmstierna Hans , Alm Jan 
Published: July 2010

In a country‐wide screening examination in Sweden, PKU was observed in 75 (4.5 per 1,000) and hyperphenylalaninemia in 14 (0.8 per 1,000) of a total of 16,805 patients in institutions for the mentally retarded. In the national neonatal screening program in 1965–1975, which covered nearly 1 million individuals, PKU was observed in 36 and hyperphenylalaninemia in 19 individuals. The incidences of PKU and hyperphenylalaninemia in newborns are calculated to be 1/26,000 and 1/50,000, respectively. In addition, PKU and hyperphenylalaninemia were diagnosed in 14 and 1 non‐institutionalized individuals, respectively, born before September 1965.The total numbers of individuals detected as having PKU and hyperphenylalaninemia in Sweden in the present investigation are 125 and 34, respectively.
Inheritance of xanthomatosis and hyper‐β‐lipoproteinaemia: A study of 7 large kind reds
Authors: Heiberg Arvid 
Published: July 2010

In a study of xanthomatosis in the county of Östfold, Norway (220,000 inhabitants), it was found that 20 % (37 out of 185) of the probands belonged to seven large kindreds where xanthomatosis and hyper‐β‐lipoproteinaemia segregated. Almost complete ascertainment (99 %) of living subjects in the sibships in these families was obtained.Within each kindred, the frequency distribution of age‐ and sex‐adjusted cholesterol and LDL cholesterol were discontinuous; the xanthomatosis patients all had values corresponding to the upper mode, whereas no person without xanthomatosis had such values. The combined results showed a slight overlap. Triglyceride concentrations were unimodally distributed.The genetics of the disorder in the seven families was analysed on the basis of 270 individuals. The segregation pattern satisfied the criteria for autosomal dominant inheritance, but not those for a polygenic trait. Thus, xanthomatosis with hyper‐β‐lipoproteinaemia segregates as an autosomal dominant trait in these seven kindreds. No evidence of reduced penetrance was found.Since both IIA and IIB lipoprotein patterns were observed within the same family, there is no evidence that the two patterns reflect the presence of different genes in these kindreds.
Histidinuria: A renal and intestinal histidine transport deficiency found in two mentally retarded children
Authors: Sabater Juan , Ferré Carmen , Puliol Maria , Maya Antonio 
Published: July 2010

Two siblings presenting slight mental retardation showed an abnormal elimination of histidine, their blood levels for the same amino acid being normal. The percentage of tubular resorption of histidine was calculated in both boys, and the values were 40.1 per cent (case 1) and 52.8 per cent (case 2).All other amino acids essayed were normal. After an oral overload test with histidine, a low intestinal absorption was found in the two boys, the values of this test in the parents being intermediate between those of the children and of the three normal controls and corresponding to heterozygosity. In view of the studies carried out on the two boys, it is possible to conclude that they are suffering from an impairment in their histidine membrane transport system which affects the kidney and intestines. Since they are siblings a genetically determined trait may be suspected.
48, XXXY Klinefelter syndrome and nail‐patella syndrome in the same child
Authors: Jansen Jette , Hansen Erik , Hobolth Niels , Jacobsen Petrea , Mikkelsen Margareta 
Published: July 2010

A patient is described who in addition to having the 48, XXXY Klinefelter syndrome has the autosomal dominant nail‐patella syndrome, inherited through his mother from the grandfather. Clinical signs of both syndromes were found.Chromosomal investigation with BUDR incorporation and acridine orange staining showed that one X chromosome stained intensively, while the other X chromosomes were elongated and weakly stained. Difference in degree of stretching of the supernumerary chromosomes was noted.The occurrence of the two rare syndromes in the same patient is assumed to be fortuitous.
Cytogenetics of 50 patients with mental retardation and multiple congenital anomalies and 50 normal subjects:Madison blind study IV
Authors: Magnelli Norma C. 
Published: July 2010

The chromosomes of 50 idiopathic mentally retarded patients with at least three other anomalies and 50 normal subjects were analyzed from randomized coded slides. The chromosomally abnormal cases were also studied by means of Q‐banding.Seven of the patients showed a chromosome anomaly. Two had an extra G‐like chromosome, which in case M99 consisted mainly of 16p (he had also a small Y chromosome shared by his father and brother), and in case M8 of 9p. The mother and sister of M99 were balanced translocation carriers. Case M18 (published separately) had approximately half of 12p deleted. Case M60 had a deletion of 20q and trisomy for a segment which most probably came from 7p. Case M49 had a deletion of 1p and increased centric heterochromatin in 1q: the latter abnormality was shared by the father and a sister. Case M83 displayed low‐grade mosaicism for cells with an extra small ring of unknown origin. Case M38 had the brightly fluorescent distal part of the Y chromosome duplicated, and the father had the same chromosome. In the five first cases the phenotype was presumably caused by the chromosome anomaly, and in the mosaic this is a possible cause.In the normal subjects, two persons had minor chromosome anomalies: case M68 had a pericentric inversion in the Y chromosome, which was found also in the father and the brother, and case M10 had a telocentric no. 21.Three of the patients (M18, M49 and M99) can be regarded as type specimens for new syndromes in the sense that the chromosome anomalies causing the respective phenotypes have been identified for the first time.
Autosomal recessive muscular dystrophy in Manitoba Hutterites*
Authors: Shokeir M. H. K. , Kobrinsky N. L. 
Published: July 2010

A slowly progressive type of muscular dystrophy affecting 11 known members of several Southern Manitoba Hutterite colonies is described. Though encompassing the facial characteristics of the facio‐scapulo‐humeral type and the proximal distribution of the limb‐girdle type, it was felt that this disease represents a distinct type of muscular dystrophy with autosomal recessive inheritance.Since all “affected” colonies can be traced to one founding colony in South Dakota, the disease may have been introduced from Europe between 1874 and 1879. Furthermore, normal fertility and a high degree of inbreeding in a genetically isolated population have contributed to the maintenance of the disease in the population.
The inheritance of hyperipoproteinaemia with xanthomatosis:A study of 132 kindreds
Authors: Heiberg Arvid , Berg Kåre 
Published: July 2010

In a study of xanthomatosis kindreds in the county of Östfold, Norway, 95 % of the living first degree relatives of the probands were investigated. Hyperlipoproteinaemia (lipid values above the 95th percentile) was present in 40.8 % of 554 first degree relatives of probands with xanthomatosis. The distribution curve was bimodal for cholesterol and LDL cholesterol concentrations, but not for triglyceride concentration within the different categories of families.The IIA lipoprotein pattern was the most frequent lipoprotein abnormality, in probands as well as in affected first degree relatives. However, IIB and IV lipoprotein patterns were also found in affected family members, irrespective of the pattern in the probands.About 93 % of the xanthomatosis subjects had a lipoprotein disorder segregating as an autosomal dominant; the remaining 7 X were sporadic cases and/or had a multifactorially determined xanthomatosis. More sibs than offspring were affected; this was particularly pronounced for males with a IIA lipoprotein pattern. The genetic analysis gave no reason to suspect that hypercholesterolaemia with a IIA pattern is not the same disease as hyper‐cholesterolaemia with a IIB pattern. However, a significant number of xanthomatosis patients had more than one type of hyperlipoproteinaemia.The frequency of the xanthomatosis trait was estimated to be 3.2/1000, and the ascertainment probability 0.6. The prevalence of familial hypercholesterolaemia with xanthomatosis was estimated to be 2.2/1000 and the multiple type hyperlipoproteinaemia with xanthomatosis had a frequency of 1.0/1000.
Cerebellar ataxia and hypergonadotropic hypogonadism in two kindreds. Chance concurrence, pleiotropism or linkage?
Authors: Skre Håvard , Bassöe Hans H. , Berg Kåre , Frövig Arne G. 
Published: July 2010

Two kindreds with Marinesco‐Sjögren's syndrome in three sibships are described. In five of the six affected, but in none of the unaffected sibs, a hypergonadotropic hypogonadism was observed. In one of the kindreds a high degree of inbreeding was revealed, and inbreeding likely also existed in the other kindred. The two families were not related.Marinesco‐Sjögren's syndrome is known to be a distinct clinical entity, governed by autosomal recessive inheritance, and this also applies to hypergonadotropic hypogonadism. Several heredo‐degenerative nervous disorders are accompanied by a hypogonadotropic hypogonadism, which is believed to be secondary to the neurological disorder, as in traumatic paraplegia. A hypergonadotropic hypogonadism cannot readily be explained in this way. We consider genetic linkage between two independent disorders as the most likely explanation for the observed concurrence.
Psychological responses to genetic counseling for Down's syndrome
Authors: Antley Ray M. , Hartlage Lawrence C. 
Published: July 2010

To assess some of the emotional aspects of why parents seek genetic counseling and to measure the effect of genetic counseling in parents of children with Down's syndrome, pre‐and post‐counseling measures of anxiety, hostility, depression, and self‐concept were obtained from 43 parents. Pre‐counseling responses were compared with those of normative controls, and pre and post‐counseling scores were compared for areas of significant change.Anxiety, hostility and depression levels were significantly higher in parents seeking counseling than in normative controls (both P < 0.002). Following genetic counseling, there was a significant lowering of anxiety (P < 0.0005) and depression (P < 0.05) along with a significant increase in overall self‐concept (P < 0.01). The study documents the importance of looking at factors related to emotional needs and self‐image of parents in genetic counseling.